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<!--
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||
UID=14533
|
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ConceptID=C0029442
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Osteomalacia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14533</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) Click for more information.">C0029442</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Osteomalacia (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>OM - osteomalacia (4598005); Osteomalacia (4598005)</td></tr>
|
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<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:0002749">HP:0002749</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001068" target="_blank">MONDO:0001068</a></td></tr>
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<div class="portlet_content ln">Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<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>
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<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 unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline">Osteomalacia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/272508" ref="tree=MeSH" title="MedGen record for Connective and Soft Tissue Disorder">Connective and Soft Tissue Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/6471" ref="tree=MeSH" title="MedGen record for Musculoskeletal system disorder">Musculoskeletal system disorder</a></span><ul><li><span class="TLline"><a href="/medgen/14182" ref="tree=MeSH" title="MedGen record for Disorder of bone">Disorder of bone</a></span><ul><li><span class="TLline"><a href="/medgen/2699" ref="tree=MeSH" title="MedGen record for Metabolic bone disorder">Metabolic bone disorder</a></span><ul><li><span class="matched_ds">Osteomalacia</span><ul><li><span class="TLline"><a href="/medgen/226893" ref="tree=MeSH" title="MedGen record for Tumor-induced osteomalacia">Tumor-induced osteomalacia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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<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>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_42426"><div><strong>Wilson disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42426</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) Click for more information.">C0019202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Wilson disease is a disorder of copper metabolism that, when untreated, can present with hepatic, neurologic, or psychiatric disturbances – or a combination of these – in individuals ages three years to older than 70 years. Manifestations in untreated individuals vary among and within families. Liver disease can include recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations can include dysarthria, movement disorders (tremors, involuntary movements, chorea, choreoathetosis), dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement), dysautonomia, seizures, sleep disorders, or insomnia. Psychiatric disturbances can include depression, bipolar disorder / bipolar spectrum disorder, neurotic behaviors, personality changes, or psychosis. Other multisystem involvement can include the eye (Kayser-Fleischer rings), hemolytic anemia, the kidneys, the endocrine glands, and the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_18145"><div><strong>Lowe syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18145</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) Click for more information.">C0028860</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including low molecular-weight (LMW) proteinuria, aminoaciduria, bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, hypercalciuria, sodium and potassium wasting, and polyuria. The features of symptomatic Fanconi syndrome do not usually become manifest until after the first few months of life, except for LMW proteinuria. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease between the second and fourth decades of life.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/18145">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120636"><div><strong>Adult hypophosphatasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120636</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) Click for more information.">C0268413</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypophosphatasia is characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase. Clinical features range from stillbirth without mineralized bone at the severe end to pathologic fractures of the lower extremities in later adulthood at the mild end. While the disease spectrum is a continuum, seven clinical forms of hypophosphatasia are usually recognized based on age at diagnosis and severity of features: Perinatal (severe): Characterized by pulmonary insufficiency and hypercalcemia Perinatal (benign): Prenatal skeletal manifestations that slowly resolve into one of the milder forms Infantile: Onset between birth and age six months of clinical features of rickets without elevated serum alkaline phosphatase activity Severe childhood (juvenile): Variable presenting features progressing to rickets Mild childhood: Low bone mineral density for age, increased risk of fracture, and premature loss of primary teeth with intact roots Adult: Characterized by stress fractures and pseudofractures of the lower extremities in middle age, sometimes associated with early loss of adult dentition Odontohypophosphatasia: Characterized by premature exfoliation of primary teeth and/or severe dental caries without skeletal manifestations</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120636">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82804"><div><strong>Proximal renal tubular acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82804</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) Click for more information.">C0268435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82804">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83346"><div><strong>Autosomal dominant hypophosphatemic rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83346</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) Click for more information.">C0342642</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant hypophosphatemic rickets (ADHR) is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH; 307800), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997). See also hypophosphatemic bone disease (146350). Genetic Heterogeneity of Hypophosphatemic Rickets Other forms of hypophosphatemic rickets include autosomal recessive forms, i.e., ARHR1 (241520), caused by mutation in the DMP1 gene (600980) on chromosome 4q21, and ARHR2 (613312), caused by mutation in the ENPP1 gene (173335) on chromosome 6q23. An X-linked dominant form (XLHR; 307800) is caused by mutation in the PHEX gene (300550), and an X-linked recessive form (300554) is caused by mutation in the CLCN5 gene (300008). Clinical Variability of Hypophosphatemic Rickets Hypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, 264700). A form of hypophosphatemic rickets with hypercalciuria (HHRH; 241530) is caused by mutation in the SLC34A3 gene (609826), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (612089) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO; 604824).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83346">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_196551"><div><strong>Familial X-linked hypophosphatemic vitamin D refractory rickets</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196551</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) Click for more information.">C0733682</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis, usually involving the sagittal suture with consequent scaphocephaly. XLH typically manifests in the first two years of life with lower extremity bowing due to the onset of weight-bearing; however, it sometimes does not manifest until adulthood, as previously unevaluated short stature. Adults may present with calcification of the tendons, ligaments, and joint capsules, joint pain, fatigue, insufficiency fractures, and impaired mobility. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported. Rarely, individuals with XLH can suffer from spinal stenosis, Chiari I malformation, syringomyelia, and/or raised intracranial pressure.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196551">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322173"><div><strong>Familial hypocalciuric hypercalcemia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322173</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) Click for more information.">C1833372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322173">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333534"><div><strong>Hypophosphatemic bone disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333534</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) Click for more information.">C1840321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333534">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335115"><div><strong>Hypophosphatemic rickets, X-linked recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335115</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) Click for more information.">C1845168</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">X-linked recessive hypophosphatemic rickets (XLHRR) is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335115">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336322"><div><strong>Dent disease type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336322</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) Click for more information.">C1848336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dent disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one additional finding including nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance. Males younger than age ten years may manifest only LMW proteinuria and/or hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected males develop end-stage renal disease (ESRD) between ages 30 and 50 years; in some instances ESRD does not develop until the sixth decade of life or later. The disease may also be accompanied by rickets or osteomalacia, growth restriction, and short stature. Disease severity can vary within the same family. Males with Dent disease 2 (caused by pathogenic variants in OCRL) may also have mild intellectual disability, cataracts, and/or elevated muscle enzymes. Due to random X-chromosome inactivation, some female carriers may manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria. Females rarely develop CKD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336322">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336601"><div><strong>Renal tubular acidosis 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336601</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) Click for more information.">C1849435</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336601">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_354730"><div><strong>Axial osteomalacia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>354730</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) Click for more information.">C1862372</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/354730">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462002"><div><strong>Fanconi renotubular syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462002</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) Click for more information.">C3150652</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462002">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501176"><div><strong>Fanconi-Bickel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501176</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) Click for more information.">C3495427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1635492"><div><strong>Fanconi renotubular syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1635492</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) Click for more information.">C4551503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1635492">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1781752"><div><strong>Immunodeficiency 82 with systemic inflammation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1781752</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) Click for more information.">C5543581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1781752">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_963849"><div><strong>Autosomal dominant distal renal tubular acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>963849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN280572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Individuals with hereditary distal renal tubular acidosis (dRTA) typically present in infancy with failure to thrive, although later presentations can occur, especially in individuals with autosomal dominant SLC4A1-dRTA. Initial clinical manifestations can also include emesis, polyuria, polydipsia, constipation, diarrhea, decreased appetite, and episodes of dehydration. Electrolyte manifestations include hyperchloremic non-anion gap metabolic acidosis and hypokalemia. Renal complications of dRTA include nephrocalcinosis, nephrolithiasis, medullary cysts, and impaired renal function. Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in ATP6V0A4-, ATP6V1B1-, and FOXI1-dRTA), and hereditary hemolytic anemia (in some individuals with SLC4A1-dRTA).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/963849">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120636" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult hypophosphatasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_963849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant distal renal tubular acidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant hypophosphatemic rickets</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_354730" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Axial osteomalacia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336322" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dent disease type 1</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322173" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial hypocalciuric hypercalcemia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_196551" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Familial X-linked hypophosphatemic vitamin D refractory rickets</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1635492" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462002" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi renotubular syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-Bickel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333534" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic bone disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335115" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypophosphatemic rickets, X-linked recessive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1781752" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 82 with systemic inflammation</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_18145" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lowe syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Proximal renal tubular acidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal tubular acidosis 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_42426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wilson disease</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35940468">Hypophosphatemia: A Practical Guide to Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tebben PJ</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2022 Oct;28(10):1091-1099.
|
||
Epub 2022 Aug 6
|
||
doi: 10.1016/j.eprac.2022.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35940468" target="_blank">35940468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31068690">Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haffner D,
|
||
Emma F,
|
||
Eastwood DM,
|
||
Biosse Duplan M,
|
||
Bacchetta J,
|
||
Schnabel D,
|
||
Wicart P,
|
||
Bockenhauer D,
|
||
Santos F,
|
||
Levtchenko E,
|
||
Harvengt P,
|
||
Kirchhoff M,
|
||
Di Rocco F,
|
||
Chaussain C,
|
||
Brandi ML,
|
||
Savendahl L,
|
||
Briot K,
|
||
Kamenicky P,
|
||
Rejnmark L,
|
||
Linglart A</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2019 Jul;15(7):435-455.
|
||
doi: 10.1038/s41581-019-0152-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31068690" target="_blank">31068690</a><a href="/pmc/articles/PMC7136170" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26745253">Global Consensus Recommendations on Prevention and Management of Nutritional Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Munns CF,
|
||
Shaw N,
|
||
Kiely M,
|
||
Specker BL,
|
||
Thacher TD,
|
||
Ozono K,
|
||
Michigami T,
|
||
Tiosano D,
|
||
Mughal MZ,
|
||
Mäkitie O,
|
||
Ramos-Abad L,
|
||
Ward L,
|
||
DiMeglio LA,
|
||
Atapattu N,
|
||
Cassinelli H,
|
||
Braegger C,
|
||
Pettifor JM,
|
||
Seth A,
|
||
Idris HW,
|
||
Bhatia V,
|
||
Fu J,
|
||
Goldberg G,
|
||
Sävendahl L,
|
||
Khadgawat R,
|
||
Pludowski P,
|
||
Maddock J,
|
||
Hyppönen E,
|
||
Oduwole A,
|
||
Frew E,
|
||
Aguiar M,
|
||
Tulchinsky T,
|
||
Butler G,
|
||
Högler W</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Feb;101(2):394-415.
|
||
Epub 2016 Jan 8
|
||
doi: 10.1210/jc.2015-2175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26745253" target="_blank">26745253</a><a href="/pmc/articles/PMC4880117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22osteomalacia%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 (202)</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/38087658">The pathophysiology of hypophosphatemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ito N,
|
||
Hidaka N,
|
||
Kato H</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2024 Mar;38(2):101851.
|
||
Epub 2023 Nov 30
|
||
doi: 10.1016/j.beem.2023.101851.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38087658" target="_blank">38087658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34534708">Hypophosphatemia after intravenous iron therapy: Comprehensive review of clinical findings and recommendations for management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer B,
|
||
Tobiasch M,
|
||
Wagner S,
|
||
Glodny B,
|
||
Tilg H,
|
||
Wolf M,
|
||
Zoller H</span><br />
|
||
<span class="medgenPMjournal">Bone</span>
|
||
2022 Jan;154:116202.
|
||
Epub 2021 Sep 15
|
||
doi: 10.1016/j.bone.2021.116202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34534708" target="_blank">34534708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33380700">Nutritional rickets & osteomalacia: A practical approach to management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uday S,
|
||
Högler W</span><br />
|
||
<span class="medgenPMjournal">Indian J Med Res</span>
|
||
2020 Oct;152(4):356-367.
|
||
doi: 10.4103/ijmr.IJMR_1961_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33380700" target="_blank">33380700</a><a href="/pmc/articles/PMC8061584" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31823940">Aluminium utensils: Is it a concern?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta YK,
|
||
Meenu M,
|
||
Peshin SS</span><br />
|
||
<span class="medgenPMjournal">Natl Med J India</span>
|
||
2019 Jan-Feb;32(1):38-40.
|
||
doi: 10.4103/0970-258X.272116.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31823940" target="_blank">31823940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26745253">Global Consensus Recommendations on Prevention and Management of Nutritional Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Munns CF,
|
||
Shaw N,
|
||
Kiely M,
|
||
Specker BL,
|
||
Thacher TD,
|
||
Ozono K,
|
||
Michigami T,
|
||
Tiosano D,
|
||
Mughal MZ,
|
||
Mäkitie O,
|
||
Ramos-Abad L,
|
||
Ward L,
|
||
DiMeglio LA,
|
||
Atapattu N,
|
||
Cassinelli H,
|
||
Braegger C,
|
||
Pettifor JM,
|
||
Seth A,
|
||
Idris HW,
|
||
Bhatia V,
|
||
Fu J,
|
||
Goldberg G,
|
||
Sävendahl L,
|
||
Khadgawat R,
|
||
Pludowski P,
|
||
Maddock J,
|
||
Hyppönen E,
|
||
Oduwole A,
|
||
Frew E,
|
||
Aguiar M,
|
||
Tulchinsky T,
|
||
Butler G,
|
||
Högler W</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2016 Feb;101(2):394-415.
|
||
Epub 2016 Jan 8
|
||
doi: 10.1210/jc.2015-2175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26745253" target="_blank">26745253</a><a href="/pmc/articles/PMC4880117" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteomalacia%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 (1305)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38127062">Tumor-induced osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukumoto S</span><br />
|
||
<span class="medgenPMjournal">Panminerva Med</span>
|
||
2024 Jun;66(2):188-197.
|
||
Epub 2023 Dec 21
|
||
doi: 10.23736/S0031-0808.23.05047-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38127062" target="_blank">38127062</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36327295">Tumor-induced Osteomalacia: A Comprehensive Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Minisola S,
|
||
Fukumoto S,
|
||
Xia W,
|
||
Corsi A,
|
||
Colangelo L,
|
||
Scillitani A,
|
||
Pepe J,
|
||
Cipriani C,
|
||
Thakker RV</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2023 Mar 4;44(2):323-353.
|
||
doi: 10.1210/endrev/bnac026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36327295" target="_blank">36327295</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36499221">Osteomalacia Is Not a Single Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cianferotti L</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Nov 28;23(23)
|
||
doi: 10.3390/ijms232314896.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36499221" target="_blank">36499221</a><a href="/pmc/articles/PMC9740398" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36220217">Tumour-induced osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nuam CS,
|
||
Tun TZ,
|
||
Fernando D</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2022 Jul;22(Suppl 4):24.
|
||
doi: 10.7861/clinmed.22-4-s24.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36220217" target="_blank">36220217</a><a href="/pmc/articles/PMC9600814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35940468">Hypophosphatemia: A Practical Guide to Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tebben PJ</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2022 Oct;28(10):1091-1099.
|
||
Epub 2022 Aug 6
|
||
doi: 10.1016/j.eprac.2022.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35940468" target="_blank">35940468</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteomalacia%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 (1640)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33338281">Burosumab for the Treatment of Tumor-Induced Osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jan de Beur SM,
|
||
Miller PD,
|
||
Weber TJ,
|
||
Peacock M,
|
||
Insogna K,
|
||
Kumar R,
|
||
Rauch F,
|
||
Luca D,
|
||
Cimms T,
|
||
Roberts MS,
|
||
San Martin J,
|
||
Carpenter TO</span><br />
|
||
<span class="medgenPMjournal">J Bone Miner Res</span>
|
||
2021 Apr;36(4):627-635.
|
||
Epub 2021 Jan 12
|
||
doi: 10.1002/jbmr.4233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33338281" target="_blank">33338281</a><a href="/pmc/articles/PMC8247961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30321335">Skeletal and Extraskeletal Actions of Vitamin D: Current Evidence and Outstanding Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Marcocci C,
|
||
Carmeliet G,
|
||
Bikle D,
|
||
White JH,
|
||
Dawson-Hughes B,
|
||
Lips P,
|
||
Munns CF,
|
||
Lazaretti-Castro M,
|
||
Giustina A,
|
||
Bilezikian J</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Aug 1;40(4):1109-1151.
|
||
doi: 10.1210/er.2018-00126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30321335" target="_blank">30321335</a><a href="/pmc/articles/PMC6626501" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21872800">The effect of vitamin D on bone and osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lips P,
|
||
van Schoor NM</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Endocrinol Metab</span>
|
||
2011 Aug;25(4):585-91.
|
||
doi: 10.1016/j.beem.2011.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21872800" target="_blank">21872800</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8929782">Antacid-induced osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boutsen Y,
|
||
Devogelaer JP,
|
||
Malghem J,
|
||
Noel H,
|
||
Nagant de Deuxchaisnes C</span><br />
|
||
<span class="medgenPMjournal">Clin Rheumatol</span>
|
||
1996 Jan;15(1):75-80.
|
||
doi: 10.1007/BF02231691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8929782" target="_blank">8929782</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1662103">Postgastrectomy osteoporosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tovey FI,
|
||
Hall ML,
|
||
Ell PJ,
|
||
Hobsley M</span><br />
|
||
<span class="medgenPMjournal">Br J Surg</span>
|
||
1991 Nov;78(11):1335-7.
|
||
doi: 10.1002/bjs.1800781122.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1662103" target="_blank">1662103</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteomalacia%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 (1900)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35981346">Approach to Hypophosphatemic Rickets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ackah SA,
|
||
Imel EA</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Dec 17;108(1):209-220.
|
||
doi: 10.1210/clinem/dgac488.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35981346" target="_blank">35981346</a><a href="/pmc/articles/PMC9759174" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34861414">Kienböck's disease in 2021.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Camus EJ,
|
||
Van Overstraeten L</span><br />
|
||
<span class="medgenPMjournal">Orthop Traumatol Surg Res</span>
|
||
2022 Feb;108(1S):103161.
|
||
Epub 2021 Nov 30
|
||
doi: 10.1016/j.otsr.2021.103161.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34861414" target="_blank">34861414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30321335">Skeletal and Extraskeletal Actions of Vitamin D: Current Evidence and Outstanding Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Marcocci C,
|
||
Carmeliet G,
|
||
Bikle D,
|
||
White JH,
|
||
Dawson-Hughes B,
|
||
Lips P,
|
||
Munns CF,
|
||
Lazaretti-Castro M,
|
||
Giustina A,
|
||
Bilezikian J</span><br />
|
||
<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Aug 1;40(4):1109-1151.
|
||
doi: 10.1210/er.2018-00126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30321335" target="_blank">30321335</a><a href="/pmc/articles/PMC6626501" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15207026">Toxic metals and the menopause.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vahter M,
|
||
Berglund M,
|
||
Akesson A</span><br />
|
||
<span class="medgenPMjournal">J Br Menopause Soc</span>
|
||
2004 Jun;10(2):60-4.
|
||
doi: 10.1258/136218004774202364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15207026" target="_blank">15207026</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11344782">Oncogenic osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rapoport J</span><br />
|
||
<span class="medgenPMjournal">Isr Med Assoc J</span>
|
||
2000 Dec;2(12):942-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11344782" target="_blank">11344782</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteomalacia%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 (431)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35940468">Hypophosphatemia: A Practical Guide to Evaluation and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tebben PJ</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2022 Oct;28(10):1091-1099.
|
||
Epub 2022 Aug 6
|
||
doi: 10.1016/j.eprac.2022.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35940468" target="_blank">35940468</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30808384">FGF23 and its role in X-linked hypophosphatemia-related morbidity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beck-Nielsen SS,
|
||
Mughal Z,
|
||
Haffner D,
|
||
Nilsson O,
|
||
Levtchenko E,
|
||
Ariceta G,
|
||
de Lucas Collantes C,
|
||
Schnabel D,
|
||
Jandhyala R,
|
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Mäkitie O</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2019 Feb 26;14(1):58.
|
||
doi: 10.1186/s13023-019-1014-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30808384" target="_blank">30808384</a><a href="/pmc/articles/PMC6390548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30321335">Skeletal and Extraskeletal Actions of Vitamin D: Current Evidence and Outstanding Questions.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouillon R,
|
||
Marcocci C,
|
||
Carmeliet G,
|
||
Bikle D,
|
||
White JH,
|
||
Dawson-Hughes B,
|
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Lips P,
|
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Munns CF,
|
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Lazaretti-Castro M,
|
||
Giustina A,
|
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Bilezikian J</span><br />
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<span class="medgenPMjournal">Endocr Rev</span>
|
||
2019 Aug 1;40(4):1109-1151.
|
||
doi: 10.1210/er.2018-00126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30321335" target="_blank">30321335</a><a href="/pmc/articles/PMC6626501" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19032922">Osteomalacia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maricic M</span><br />
|
||
<span class="medgenPMjournal">Curr Osteoporos Rep</span>
|
||
2008 Dec;6(4):130-3.
|
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doi: 10.1007/s11914-008-0023-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19032922" target="_blank">19032922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3915959">Aluminum in tissues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van de Vyver FL,
|
||
De Broe ME</span><br />
|
||
<span class="medgenPMjournal">Clin Nephrol</span>
|
||
1985;24 Suppl 1:S37-57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3915959" target="_blank">3915959</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteomalacia%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 (719)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35468192">Tumor-induced Osteomalacia: A Systematic Review and Individual Patient's Data Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rendina D,
|
||
Abate V,
|
||
Cacace G,
|
||
D'Elia L,
|
||
De Filippo G,
|
||
Del Vecchio S,
|
||
Galletti F,
|
||
Cuocolo A,
|
||
Strazzullo P</span><br />
|
||
<span class="medgenPMjournal">J Clin Endocrinol Metab</span>
|
||
2022 Jul 14;107(8):e3428-e3436.
|
||
doi: 10.1210/clinem/dgac253.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35468192" target="_blank">35468192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33305822">Vitamin D supplementation for term breastfed infants to prevent vitamin D deficiency and improve bone health.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tan ML,
|
||
Abrams SA,
|
||
Osborn DA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Dec 11;12(12):CD013046.
|
||
doi: 10.1002/14651858.CD013046.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33305822" target="_blank">33305822</a><a href="/pmc/articles/PMC8812278" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27922335">Nutritional rickets around the world: an update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Creo AL,
|
||
Thacher TD,
|
||
Pettifor JM,
|
||
Strand MA,
|
||
Fischer PR</span><br />
|
||
<span class="medgenPMjournal">Paediatr Int Child Health</span>
|
||
2017 May;37(2):84-98.
|
||
Epub 2016 Dec 6
|
||
doi: 10.1080/20469047.2016.1248170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27922335" target="_blank">27922335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25233067">Systematic review of potential health risks posed by pharmaceutical, occupational and consumer exposures to metallic and nanoscale aluminum, aluminum oxides, aluminum hydroxide and its soluble salts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Willhite CC,
|
||
Karyakina NA,
|
||
Yokel RA,
|
||
Yenugadhati N,
|
||
Wisniewski TM,
|
||
Arnold IM,
|
||
Momoli F,
|
||
Krewski D</span><br />
|
||
<span class="medgenPMjournal">Crit Rev Toxicol</span>
|
||
2014 Oct;44 Suppl 4(Suppl 4):1-80.
|
||
doi: 10.3109/10408444.2014.934439.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25233067" target="_blank">25233067</a><a href="/pmc/articles/PMC4997813" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15846704">Vitamins for epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ranganathan LN,
|
||
Ramaratnam S</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2005 Apr 18;(2):CD004304.
|
||
doi: 10.1002/14651858.CD004304.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15846704" target="_blank">15846704</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Osteomalacia%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 (19)</a></div></div>
|
||
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|
||
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|
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Osteomalacia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22osteomalacia%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Osteomalacia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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