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<meta name="keywords" content="C4082176, asthenospermia, asthenozoospermia, decreased sperm motility, finding, reduced motility of sperm, reduced sperm motility, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="An abnormal reduction in the mobility of ejaculated sperm." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Reduced sperm motility (Concept Id: C4082176)
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<!--
UID=907698
ConceptID=C4082176
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Reduced sperm motility</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907698</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information."><span class="highlight" style="background-color:">C4082176</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
<td>asthenozoospermia</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Asthenozoospermia (24463005)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012207">HP:0012207</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">An abnormal reduction in the mobility of ejaculated sperm. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4082176[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=907698">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=907698" ref="ncbi_uid=907698">V</a></span></span><span class="TLline">Reduced sperm motility</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/155422" ref="tree=MeSH" title="MedGen record for Abnormality of the genital system">Abnormality of the genital system</a></span><ul><li><span class="TLline"><a href="/medgen/892582" ref="tree=MeSH" title="MedGen record for Abnormality of reproductive system physiology">Abnormality of reproductive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/866472" ref="tree=MeSH" title="MedGen record for Abnormal male reproductive system physiology">Abnormal male reproductive system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871400" ref="tree=MeSH" title="MedGen record for Functional abnormality of male internal genitalia">Functional abnormality of male internal genitalia</a></span><ul><li><span class="TLline"><a href="/medgen/1841741" ref="tree=MeSH" title="MedGen record for Abnormal sperm physiology">Abnormal sperm physiology</a></span><ul><li><span class="TLline"><a href="/medgen/488943" ref="tree=MeSH" title="MedGen record for Abnormal sperm motility">Abnormal sperm motility</a></span><ul><li><span class="matched_ds">Reduced sperm motility</span><ul><li><span class="TLline"><a href="/medgen/701339" ref="tree=MeSH" title="MedGen record for Immotile sperm">Immotile sperm</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_96569"><div><strong>Renal cysts and diabetes syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96569</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0431693</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/96569">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_324840"><div><strong>Primary ciliary dyskinesia 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324840</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1837615</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-5 (CILD5) is an autosomal recessive disorder characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus (summary by Olbrich et al., 2012).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/324840">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_356065"><div><strong>Axial spondylometaphyseal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356065</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1865695</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Axial spondylometaphyseal dysplasia (SMDAX) is characterized by postnatal growth failure, including rhizomelic short stature in early childhood that evolves into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and vision rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on electroretinogram. Radiologic hallmarks include short ribs with flared and cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora (summary by Suzuki et al., 2011).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/356065">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_370197"><div><strong>Deafness-infertility syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370197</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1970187</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">STRC-related autosomal recessive hearing loss (STRC-HL) comprises both nonsyndromic sensorineural hearing loss and sensorineural hearing loss with decreased fertility in males who have biallelic contiguous gene deletions involving STRC and CATSPER2. The hearing loss is mild to moderate, congenital, bilateral, and symmetric. Mean pure tone hearing loss averages 40-50 decibels (dB) at the time of diagnosis; hearing loss is not severe to profound in children or young adults. Of note, while many newborns with STRC-HL will be identified by newborn hearing screening (NBHS), some newborns with STRC-HL will not because some screening methods may not detect milder hearing loss. Males with biallelic contiguous gene deletions involving STRC and CATSPER2 are at risk for CATSPER2-related male infertility due to morphologic sperm abnormalities that affect sperm motility. In contrast, females with contiguous gene deletions do not have related fertility issues.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/370197">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_436379"><div><strong>Primary ciliary dyskinesia 12</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436379</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2675228</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nRarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436379">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_390741"><div><strong>Primary ciliary dyskinesia 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>390741</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2675229</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rarely, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain.\n\nAnother feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if untreated. The ear infections are likely related to abnormal cilia within the inner ear.\n\nPrimary ciliary dyskinesia can also lead to infertility. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the female egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia are usually unable to father children. Infertility occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes.\n\nApproximately 12 percent of people with primary ciliary dyskinesia have a condition known as heterotaxy syndrome or situs ambiguus, which is characterized by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome results from problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy varies widely among affected individuals.\n\nSome individuals with primary ciliary dyskinesia have abnormally placed organs within their chest and abdomen. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. About 50 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, in these individuals the heart is on the right side of the body instead of on the left. Situs inversus totalis does not cause any apparent health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.\n\nIn the respiratory tract, cilia move back and forth in a coordinated way to move mucus towards the throat. This movement of mucus helps to eliminate fluid, bacteria, and particles from the lungs. Most babies with primary ciliary dyskinesia experience breathing problems at birth, which suggests that cilia play an important role in clearing fetal fluid from the lungs. Beginning in early childhood, affected individuals develop frequent respiratory tract infections. Without properly functioning cilia in the airway, bacteria remain in the respiratory tract and cause infection. People with primary ciliary dyskinesia also have year-round nasal congestion and a chronic cough. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages, called bronchi, leading from the windpipe to the lungs and can cause life-threatening breathing problems.\n\nPrimary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/390741">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_414478"><div><strong>Spermatogenic failure 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>414478</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2751811</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to difficulty conceiving children (a condition called infertility). People with this condition produce sperm that have decreased movement (motility). Affected individuals may also produce fewer sperm cells or sperm cells that are abnormally shaped. These sperm abnormalities prevent people with this condition from conceiving without assisted reproductive technologies.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/414478">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_462486"><div><strong>Primary ciliary dyskinesia 14</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462486</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3151136</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-14 (CILD14) is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/462486">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_766707"><div><strong>Spermatogenic failure 10</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766707</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3553793</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-10 (SPGF10) is associated with a defective annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail. The firm attachment of the annulus to the flagellar membrane suggests that it may supply mechanical support and prevent displacement of the caudal mitochondrial helix (summary by Kuo et al., 2012).&#13; For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/766707">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767367"><div><strong>Spermatogenic failure 11</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767367</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554453</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767367">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_815873"><div><strong>Primary ciliary dyskinesia 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815873</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3809543</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-22 (CILD22) is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by Zariwala et al., 2013).&#13; For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/815873">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816014"><div><strong>Primary ciliary dyskinesia 26</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816014</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3809684</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Austin-Tse et al., 2013).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816014">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_934641"><div><strong>Spermatogenic failure 16</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934641</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4310674</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-16 (SPGF16) is characterized by acephalic spermatozoa causing male infertility. Semen from affected men consistently shows nearly 100% abnormally shaped spermatozoa, mostly made up of headless tails, with a small proportion of intact spermatozoa with an abnormal head-tail junction, as well as a few tailless heads. Ultrastructurally, the anomaly involves absence of the implantation fossa and basal plate between the sperm head and the tail (summary by Zhu et al., 2016).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/934641">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1617309"><div><strong>Spermatogenic failure 18</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617309</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4539783</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-18 (SPGF18) is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1617309">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1614356"><div><strong>Spermatogenic failure 19</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614356</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4539818</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-19 (SPGF19) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1614356">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1617056"><div><strong>Spermatogenic failure 21</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617056</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4539991</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-21 (SPGF21) is characterized by acephalic spermatozoa causing male infertility (Li et al., 2017).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1617056">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1634798"><div><strong>Spermatogenic failure, Y-linked, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634798</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551960</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Y chromosome infertility is characterized by azoospermia (absence of sperm), severe oligozoospermia (&lt;1 x 106 sperm/mL semen), moderate oligozoospermia (1-5 x 106 sperm/mL semen), or mild oligozoospermia (5-20 x 106 sperm/mL semen). Males with Y chromosome infertility usually have no obvious symptoms, although physical examination may reveal small testes.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1634798">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1646063"><div><strong>Spermatogenic failure 24</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646063</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693751</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-24 (SPGF24) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, coiled, bent, and irregular-caliber flagella. Malformations of the sperm head have also been observed. In addition, patients exhibit very low sperm concentrations and total sperm counts per ejaculate (Dong et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646063">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1634748"><div><strong>Spermatogenic failure 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634748</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4693784</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018).&#13; For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1634748">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648302"><div><strong>Spermatogenic failure 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648302</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4721889</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">In spermatogenic failure-3 (SPGF3), primary infertility is associated with nonobstructive asthenozoospermia (Dirami et al., 2013).&#13; For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648302">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1658130"><div><strong>Retinitis pigmentosa with or without situs inversus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1658130</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4747737</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Retinitis pigmentosa-82 with or without situs inversus (RP82) is an autosomal recessive form of retinal degeneration characterized by initial loss of rod photoreceptors, resulting in impaired night vision followed by progressive visual field constriction as both rod and cone photoreceptors die. Some affected individuals have situs inversus (Davidson et al., 2013; Audo et al., 2017). Male patients with infertility due to reduced or absent sperm motility have been reported; female fertility appears to be unaffected (Moye et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1658130">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648473"><div><strong>Spermatogenic failure 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648473</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4748395</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present (Kherraf et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648473">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1648297"><div><strong>Spermatogenic failure 34</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648297</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4748403</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present (Martinez et al., 2018).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1648297">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1677534"><div><strong>Spermatogenic failure 37</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1677534</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5193091</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen (Liu et al., 2019).&#13; For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1677534">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1680356"><div><strong>Spermatogenic failure 38</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1680356</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5193095</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella (Coutton et al., 2019).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1680356">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684778"><div><strong>Spermatogenic failure 39</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684778</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231438</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. In some patients, spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella. Abnormalities of the sperm head and midpiece have also been observed, and ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells. In other patients, sperm do not exhibit MMAF, and ultrastructural analysis shows that many flagella lack 1 or more of microtubule doublets (MTDs) 4 to 7 at the principal piece or end piece; however, ODAs are present at the remaining MTDs (Whitfield et al., 2019; Zhang et al., 2020).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684778">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684744"><div><strong>Spermatogenic failure 42</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684744</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231488</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684744">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1684830"><div><strong>Spermatogenic failure 43</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684830</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5231490</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis (Liu et al., 2019; Sha et al., 2019; Liu et al., 2020).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1684830">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1750188"><div><strong>Spermatogenic failure 44</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1750188</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436678</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-44 (SPGF44) is characterized by male infertility due to headless sperm in the ejaculate (Sha et al., 2020).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1750188">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1776221"><div><strong>Spermatogenic failure 45</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1776221</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436791</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath (Li et al., 2019).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1776221">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1726728"><div><strong>Spermatogenic failure 46</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1726728</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436799</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-46 (SPGF46) is characterized by male infertility due to asthenoteratozoospermia. Sperm of affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are absent, short, coiled, angulated, and/or of irregular caliber. Ultrastructural analysis shows disorganization of axonemal and periaxonemal structures (Liu et al., 2020).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1726728">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1742668"><div><strong>Spermatogenic failure 49</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1742668</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5436887</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-49 (SPGF49) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), primarily coiled and short flagella, with markedly reduced or no progressive motility (He et al., 2020).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1742668">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1784059"><div><strong>Spermatogenic failure, X-linked, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1784059</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5542347</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked spermatogenic failure-3 (SPGFX3) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1784059">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1780365"><div><strong>Spermatogenic failure 51</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780365</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5543033</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-51 (SPGF51) is characterized by male infertility due to severe asthenoteratozoospermia. Patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Abnormalities of the sperm head, base, and acrosome have also been observed (Martinez et al., 2020).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1780365">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1782493"><div><strong>Spermatogenic failure 54</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782493</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5543570</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-54 (SPGF54) is characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility (Arafat et al., 2021).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1782493">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1781781"><div><strong>Spermatogenic failure 55</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781781</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5543580</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-55 (SPGF55) is characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility (Xu et al., 2018).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1781781">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1780196"><div><strong>Ciliary dyskinesia, primary, 46</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780196</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5543646</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-46 (CILD46) is characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. No situs abnormalities have been observed (Edelbusch et al., 2017).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1780196">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794188"><div><strong>Spermatogenic failure 56</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794188</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5561978</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-56 (SPGF56) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), resulting in severely reduced sperm motility (Tu et al., 2021).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794188">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1794277"><div><strong>Spermatogenic failure 65</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794277</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5562067</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent, and patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including coiled, irregular-caliber, short, and absent flagella. Abnormalities of the flagellar midpiece are also present (Tan et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1794277">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1809945"><div><strong>Spermatogenic failure 70</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1809945</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5676962</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-70 (SPGF70) is characterized by male infertility due to azoospermia or sperm immotility and necrozoospermia (Yildirim et al., 2018). Hypospermatogenesis and meiotic arrest have also been observed (Kherraf et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1809945">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824009"><div><strong>Spermatogenic failure 76</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824009</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774236</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-76 (SPGF76) is characterized by male infertility due to oligoasthenoteratozoospermia. Multiple morphologic abnormalities of the flagella (MMAF) have been observed, including short, absent, and irregular caliber flagella. Ultrastructural anomalies include disordered outer dense fibers and abnormal 9+2 microtubular structures (Cong et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824009">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1824063"><div><strong>Spermatogenic failure 79</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824063</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5774290</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-79 (SPGF79) is characterized by male infertility due to an abnormal acrosome reaction and impaired membrane potential after capacitation. Some patients exhibit asthenoteratozoospermia, with defective acrosome formation and mitochondrial sheath assembly, and reduced progressive motility (Lv et al., 2022; Liu et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1824063">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840194"><div><strong>Spermatogenic failure, X-linked, 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840194</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5829558</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked spermatogenic failure-5 (SPGFX5) is characterized by male infertility due to asthenoteratozoospermia. Patient sperm shows reduced or absent progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, including short, coiled, irregular caliber, absent, and/or angulated flagella. Pregnancy may be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2023).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840194">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840198"><div><strong>Spermatogenic failure, X-linked, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840198</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5829562</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked spermatogenic failure-6 (SPGFX6) is characterized by male infertility due to asthenoteratozoospermia. Patient spermatozoa show reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, primarily short and coiled flagella. Pregnancy can be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2021).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840198">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1840203"><div><strong>Spermatogenic failure, X-linked, 7</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840203</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5829567</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">X-linked spermatogenic failure-7 (SPGFX7) is characterized by male infertility due to significantly reduced sperm concentration and progressive motility, with abnormalities of the head and flagella. Patient sperm show insufficient individualization, excessive residual cytoplasm, and defects in acrosome development (Zhang et al., 2023).&#13; For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1840203">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841106"><div><strong>Spermatogenic failure 83</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841106</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830470</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-83 (SPGF83) is characterized by male infertility due to asthenozoospermia. Patient sperm are immotile, and exhibit an asymmetric fibrous sheath of the flagella (Wu et al., 2023).&#13; Patients with reduced sperm motility due to morphologic abnormalities of the flagella (asthenoteratozoospermia) and patients with reduced sperm counts as well as flagellar defects and reduced or absent motility (oligoasthenoteratozoospermia) have been observed (Sha et al., 2022; Zhang et al., 2024).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841106">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841109"><div><strong>Ciliary dyskinesia, primary, 50</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841109</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830473</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-50 (CILD50) is characterized by chronic sinusitis and bronchitis as well as male infertility. Patient sperm have markedly reduced progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) have been observed. Ultrastructurally, patients exhibit defects or loss of the inner dynein arms of the sperm flagella (Wei et al., 2021; Gao et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841109">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841198"><div><strong>Spermatogenic failure 84</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841198</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830562</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-84 (SPGF84) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), including irregular-caliber, bent, coiled, absent, or short tails, resulting in severely reduced motility. Some patients also have a reduced sperm count (Liu et al., 2021; Hu et al., 2023).&#13; For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841198">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1841244"><div><strong>Ciliary dyskinesia, primary, 51</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841244</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5830608</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Primary ciliary dyskinesia-51 (CILD51) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), resulting in severely reduced progressive motility. Some men also have a low sperm count. In addition, affected individuals experience chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus (Guo et al., 2021).&#13; For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1841244">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1862682"><div><strong>Spermatogenic failure 91</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1862682</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935623</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-91 (SPGF91) is characterized by male infertility due to teratozoospermia. Patient sperm show defects of the head, including a misshapen rounded head and detachment of the acrosome, and the sperm fail to attach to the zona pellucida of the egg. Pregnancy can be achieved using intracytoplasmic sperm injection (ICSI) (Oud et al., 2020; Fan et al., 2022).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1862682">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1856349"><div><strong>Spermatogenic failure 92</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1856349</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935625</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-92 (SPGF92) is characterized by male infertility due to asthenozoospermia. Despite markedly reduced progressive motility, sperm morphology may appear normal on light microscopy, or show short or irregular-caliber flagella. Ultrastructural analysis of axonemal cross-sections reveals defects of the radial spokes and doublet microtubules (Li et al., 2023; Hwang et al., 2023).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1856349">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1857096"><div><strong>Spermatogenic failure 93</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1857096</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935626</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-93 (SPGF93) is characterized by male infertility due to markedly reduced progressive motility caused by multiple morphologic abnormalities of the sperm flagella (MMAF) (Ma et al., 2021).&#13; For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1857096">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1855064"><div><strong>Spermatogenic failure 94</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1855064</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5935627</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Spermatogenic failure-94 (SPGF94) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including irregularly shaped, short, absent, coiled, and multiple tails. Progressive motility of spermatozoa is markedly reduced (Muronova et al., 2024).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1855064">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 11</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934641" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 16</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1617309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 18</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1614356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 19</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1617056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 21</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646063" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 24</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634748" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 27</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648302" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 33</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648297" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 34</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1677534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 37</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1680356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 38</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684778" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 39</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684744" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 42</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684830" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 43</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1750188" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 44</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1776221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 45</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1726728" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 46</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1742668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 49</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1780365" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 51</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1782493" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 54</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781781" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 55</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794188" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 56</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794277" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 65</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_414478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1809945" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 70</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 76</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824063" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 79</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 83</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 84</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1862682" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 91</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1856349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 92</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1857096" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 93</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1855064" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure 94</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1784059" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure, X-linked, 3</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure, X-linked, 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure, X-linked, 6</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure, X-linked, 7</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spermatogenic failure, Y-linked, 1</a></div></span></div></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mulholland J,
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doi: 10.1016/s0094-0143(02)00081-2.
<span class="bold">PMID: </span><a href="/pubmed/12516754" target="_blank">12516754</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22reduced%20sperm%20motility%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/36833310">Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pereira R,
Sousa M</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Feb 1;14(2)
doi: 10.3390/genes14020383.
<span class="bold">PMID: </span><a href="/pubmed/36833310" target="_blank">36833310</a><a href="/pmc/articles/PMC9956255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36675103">Estrogenic and Non-Estrogenic Disruptor Effect of Zearalenone on Male Reproduction: A Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Balló A,
Busznyákné Székvári K,
Czétány P,
Márk L,
Török A,
Szántó Á,
Máté G</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2023 Jan 13;24(2)
doi: 10.3390/ijms24021578.
<span class="bold">PMID: </span><a href="/pubmed/36675103" target="_blank">36675103</a><a href="/pmc/articles/PMC9862602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35886074">Further Insights on RNA Expression and Sperm Motility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva C,
Viana P,
Barros A,
Sá R,
Sousa M,
Pereira R</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2022 Jul 21;13(7)
doi: 10.3390/genes13071291.
<span class="bold">PMID: </span><a href="/pubmed/35886074" target="_blank">35886074</a><a href="/pmc/articles/PMC9319021" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33472045">Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
Tu C,
Wang L,
Wu H,
Houston BJ,
Mastrorosa FK,
Zhang W,
Shen Y,
Wang J,
Tian S,
Meng L,
Cong J,
Yang S,
Jiang Y,
Tang S,
Zeng Y,
Lv M,
Lin G,
Li J,
Saiyin H,
He X,
Jin L,
Touré A,
Ray PF,
Veltman JA,
Shi Q,
O'Bryan MK,
Cao Y,
Tan YQ,
Zhang F</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2021 Feb 4;108(2):309-323.
Epub 2021 Jan 19
doi: 10.1016/j.ajhg.2021.01.002.
<span class="bold">PMID: </span><a href="/pubmed/33472045" target="_blank">33472045</a><a href="/pmc/articles/PMC7895902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32938274">Oxidative Stress is Associated with Reduced Sperm Motility in Normal Semen.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kurkowska W,
Bogacz A,
Janiszewska M,
Gabryś E,
Tiszler M,
Bellanti F,
Kasperczyk S,
Machoń-Grecka A,
Dobrakowski M,
Kasperczyk A</span><br />
<span class="medgenPMjournal">Am J Mens Health</span>
2020 Sep-Oct;14(5):1557988320939731.
doi: 10.1177/1557988320939731.
<span class="bold">PMID: </span><a href="/pubmed/32938274" target="_blank">32938274</a><a href="/pmc/articles/PMC7503008" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20sperm%20motility%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (59)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38790229">Genetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Graziani A,
Rocca MS,
Vinanzi C,
Masi G,
Grande G,
De Toni L,
Ferlin A</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2024 May 8;15(5)
doi: 10.3390/genes15050600.
<span class="bold">PMID: </span><a href="/pubmed/38790229" target="_blank">38790229</a><a href="/pmc/articles/PMC11120687" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34932939">Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan C,
Meng L,
Lv M,
He X,
Sha Y,
Tang D,
Tan Y,
Hu T,
He W,
Tu C,
Nie H,
Zhang H,
Du J,
Lu G,
Fan LQ,
Cao Y,
Lin G,
Tan YQ</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2022 Jan 6;109(1):157-171.
Epub 2021 Dec 20
doi: 10.1016/j.ajhg.2021.11.022.
<span class="bold">PMID: </span><a href="/pubmed/34932939" target="_blank">34932939</a><a href="/pmc/articles/PMC8764202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33611675">A novel splicing variant in DNAH8 causes asthenozoospermia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Z,
Mao X,
Chen B,
Mu J,
Wang W,
Li B,
Yan Z,
Dong J,
Li Q,
Kuang Y,
Wang L,
Wu L,
Sang Q</span><br />
<span class="medgenPMjournal">J Assist Reprod Genet</span>
2021 Jun;38(6):1545-1550.
Epub 2021 Feb 20
doi: 10.1007/s10815-021-02116-1.
<span class="bold">PMID: </span><a href="/pubmed/33611675" target="_blank">33611675</a><a href="/pmc/articles/PMC8266938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30198353">Genetic aspects of idiopathic asthenozoospermia as a cause of male infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Heidary Z,
Saliminejad K,
Zaki-Dizaji M,
Khorram Khorshid HR</span><br />
<span class="medgenPMjournal">Hum Fertil (Camb)</span>
2020 Jun;23(2):83-92.
Epub 2018 Sep 9
doi: 10.1080/14647273.2018.1504325.
<span class="bold">PMID: </span><a href="/pubmed/30198353" target="_blank">30198353</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25820902">ATPases, ion exchangers and human sperm motility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peralta-Arias RD,
Vívenes CY,
Camejo MI,
Piñero S,
Proverbio T,
Martínez E,
Marín R,
Proverbio F</span><br />
<span class="medgenPMjournal">Reproduction</span>
2015 May;149(5):475-84.
doi: 10.1530/REP-14-0471.
<span class="bold">PMID: </span><a href="/pubmed/25820902" target="_blank">25820902</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20sperm%20motility%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (36)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/35661433">Effect of moxa smoke on sperm parameters and oxidative stress in rats with asthenozoospermia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Y,
An Y,
Xing G,
Jin Z,
Xi K,
Huo Y,
He R,
Wang H,
Ouyang X,
Huang Y,
Huang C,
Han L,
Zhao B</span><br />
<span class="medgenPMjournal">Anat Rec (Hoboken)</span>
2023 Dec;306(12):3021-3032.
Epub 2022 Jun 6
doi: 10.1002/ar.25002.
<span class="bold">PMID: </span><a href="/pubmed/35661433" target="_blank">35661433</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28724182">Efficacy of myo-inositol in the clinical management of patients with asthenozoospermia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dinkova A,
Martinov D,
Konova E</span><br />
<span class="medgenPMjournal">Eur Rev Med Pharmacol Sci</span>
2017 Jun;21(2 Suppl):62-65.
<span class="bold">PMID: </span><a href="/pubmed/28724182" target="_blank">28724182</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25729824">Semen abnormalities with SSRI antidepressants.</a></div>
<div class="portlet_content ln"><span class="medgenPMjournal">Prescrire Int</span>
2015 Jan;24(156):16-7.
<span class="bold">PMID: </span><a href="/pubmed/25729824" target="_blank">25729824</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24927498">Effect of mobile telephones on sperm quality: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adams JA,
Galloway TS,
Mondal D,
Esteves SC,
Mathews F</span><br />
<span class="medgenPMjournal">Environ Int</span>
2014 Sep;70:106-12.
Epub 2014 Jun 10
doi: 10.1016/j.envint.2014.04.015.
<span class="bold">PMID: </span><a href="/pubmed/24927498" target="_blank">24927498</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21258590">Occupational reproductive function abnormalities and bladder cancer in Korea.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park J,
Shin KS,
Kim Y</span><br />
<span class="medgenPMjournal">J Korean Med Sci</span>
2010 Dec;25(Suppl):S41-5.
Epub 2010 Dec 15
doi: 10.3346/jkms.2010.25.S.S41.
<span class="bold">PMID: </span><a href="/pubmed/21258590" target="_blank">21258590</a><a href="/pmc/articles/PMC3023360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20sperm%20motility%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/38203468">Lipidomic Profile of Human Sperm Membrane Identifies a Clustering of Lipids Associated with Semen Quality and Function.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Di Nisio A,
De Toni L,
Sabovic I,
Vignoli A,
Tenori L,
Dall'Acqua S,
Sut S,
La Vignera S,
Condorelli RA,
Giacone F,
Ferlin A,
Foresta C,
Garolla A</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2023 Dec 25;25(1)
doi: 10.3390/ijms25010297.
<span class="bold">PMID: </span><a href="/pubmed/38203468" target="_blank">38203468</a><a href="/pmc/articles/PMC10778809" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34932939">Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan C,
Meng L,
Lv M,
He X,
Sha Y,
Tang D,
Tan Y,
Hu T,
He W,
Tu C,
Nie H,
Zhang H,
Du J,
Lu G,
Fan LQ,
Cao Y,
Lin G,
Tan YQ</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2022 Jan 6;109(1):157-171.
Epub 2021 Dec 20
doi: 10.1016/j.ajhg.2021.11.022.
<span class="bold">PMID: </span><a href="/pubmed/34932939" target="_blank">34932939</a><a href="/pmc/articles/PMC8764202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33611675">A novel splicing variant in DNAH8 causes asthenozoospermia.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Z,
Mao X,
Chen B,
Mu J,
Wang W,
Li B,
Yan Z,
Dong J,
Li Q,
Kuang Y,
Wang L,
Wu L,
Sang Q</span><br />
<span class="medgenPMjournal">J Assist Reprod Genet</span>
2021 Jun;38(6):1545-1550.
Epub 2021 Feb 20
doi: 10.1007/s10815-021-02116-1.
<span class="bold">PMID: </span><a href="/pubmed/33611675" target="_blank">33611675</a><a href="/pmc/articles/PMC8266938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33472045">Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
Tu C,
Wang L,
Wu H,
Houston BJ,
Mastrorosa FK,
Zhang W,
Shen Y,
Wang J,
Tian S,
Meng L,
Cong J,
Yang S,
Jiang Y,
Tang S,
Zeng Y,
Lv M,
Lin G,
Li J,
Saiyin H,
He X,
Jin L,
Touré A,
Ray PF,
Veltman JA,
Shi Q,
O'Bryan MK,
Cao Y,
Tan YQ,
Zhang F</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2021 Feb 4;108(2):309-323.
Epub 2021 Jan 19
doi: 10.1016/j.ajhg.2021.01.002.
<span class="bold">PMID: </span><a href="/pubmed/33472045" target="_blank">33472045</a><a href="/pmc/articles/PMC7895902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21258590">Occupational reproductive function abnormalities and bladder cancer in Korea.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Park J,
Shin KS,
Kim Y</span><br />
<span class="medgenPMjournal">J Korean Med Sci</span>
2010 Dec;25(Suppl):S41-5.
Epub 2010 Dec 15
doi: 10.3346/jkms.2010.25.S.S41.
<span class="bold">PMID: </span><a href="/pubmed/21258590" target="_blank">21258590</a><a href="/pmc/articles/PMC3023360" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20sperm%20motility%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38790229">Genetic Causes of Qualitative Sperm Defects: A Narrative Review of Clinical Evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Graziani A,
Rocca MS,
Vinanzi C,
Masi G,
Grande G,
De Toni L,
Ferlin A</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2024 May 8;15(5)
doi: 10.3390/genes15050600.
<span class="bold">PMID: </span><a href="/pubmed/38790229" target="_blank">38790229</a><a href="/pmc/articles/PMC11120687" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36833310">Morphological and Molecular Bases of Male Infertility: A Closer Look at Sperm Flagellum.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pereira R,
Sousa M</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2023 Feb 1;14(2)
doi: 10.3390/genes14020383.
<span class="bold">PMID: </span><a href="/pubmed/36833310" target="_blank">36833310</a><a href="/pmc/articles/PMC9956255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35886074">Further Insights on RNA Expression and Sperm Motility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva C,
Viana P,
Barros A,
Sá R,
Sousa M,
Pereira R</span><br />
<span class="medgenPMjournal">Genes (Basel)</span>
2022 Jul 21;13(7)
doi: 10.3390/genes13071291.
<span class="bold">PMID: </span><a href="/pubmed/35886074" target="_blank">35886074</a><a href="/pmc/articles/PMC9319021" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34932939">Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tan C,
Meng L,
Lv M,
He X,
Sha Y,
Tang D,
Tan Y,
Hu T,
He W,
Tu C,
Nie H,
Zhang H,
Du J,
Lu G,
Fan LQ,
Cao Y,
Lin G,
Tan YQ</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2022 Jan 6;109(1):157-171.
Epub 2021 Dec 20
doi: 10.1016/j.ajhg.2021.11.022.
<span class="bold">PMID: </span><a href="/pubmed/34932939" target="_blank">34932939</a><a href="/pmc/articles/PMC8764202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33472045">Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu C,
Tu C,
Wang L,
Wu H,
Houston BJ,
Mastrorosa FK,
Zhang W,
Shen Y,
Wang J,
Tian S,
Meng L,
Cong J,
Yang S,
Jiang Y,
Tang S,
Zeng Y,
Lv M,
Lin G,
Li J,
Saiyin H,
He X,
Jin L,
Touré A,
Ray PF,
Veltman JA,
Shi Q,
O'Bryan MK,
Cao Y,
Tan YQ,
Zhang F</span><br />
<span class="medgenPMjournal">Am J Hum Genet</span>
2021 Feb 4;108(2):309-323.
Epub 2021 Jan 19
doi: 10.1016/j.ajhg.2021.01.002.
<span class="bold">PMID: </span><a href="/pubmed/33472045" target="_blank">33472045</a><a href="/pmc/articles/PMC7895902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20sperm%20motility%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (54)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/39212663">Effect of SARS-CoV-2 on semen parameters: A meta-analysis of 39 articles from 15 countries.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wen L,
Tian H,
Huang X,
Song T,
Tang L,
Wei W,
Tian S,
Huang Y,
Zhang X</span><br />
<span class="medgenPMjournal">J Glob Health</span>
2024 Aug 30;14:05021.
doi: 10.7189/jogh.14.05021.
<span class="bold">PMID: </span><a href="/pubmed/39212663" target="_blank">39212663</a><a href="/pmc/articles/PMC11364090" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34333014">Effects of mobile phone usage on sperm quality - No time-dependent relationship on usage: A systematic review and updated meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kim S,
Han D,
Ryu J,
Kim K,
Kim YH</span><br />
<span class="medgenPMjournal">Environ Res</span>
2021 Nov;202:111784.
Epub 2021 Jul 30
doi: 10.1016/j.envres.2021.111784.
<span class="bold">PMID: </span><a href="/pubmed/34333014" target="_blank">34333014</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24927498">Effect of mobile telephones on sperm quality: a systematic review and meta-analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Adams JA,
Galloway TS,
Mondal D,
Esteves SC,
Mathews F</span><br />
<span class="medgenPMjournal">Environ Int</span>
2014 Sep;70:106-12.
Epub 2014 Jun 10
doi: 10.1016/j.envint.2014.04.015.
<span class="bold">PMID: </span><a href="/pubmed/24927498" target="_blank">24927498</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reduced%20sperm%20motility%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4082176%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (5)</a></li>
<li><a href="/gtr/tests?term=C4082176%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
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