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118 KiB
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<h1 class="res_name"><a href="/medgen">MedGen</a></h1>
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<div class="search"><div class="search_form"><label for="database" class="offscreen_noflow">Search database</label><select id="database"><optgroup label="Recent"><option value="medgen" selected="selected" data-ac_dict="medgen_disease_name">MedGen</option><option value="structure">Structure</option><option value="gquery">All Databases</option><option value="refseq" class="last">RefSeq</option></optgroup><optgroup label="All"><option value="gquery">All Databases</option><option value="assembly">Assembly</option><option value="biocollections">Biocollections</option><option value="bioproject">BioProject</option><option value="biosample">BioSample</option><option value="books">Books</option><option value="clinvar">ClinVar</option><option value="cdd">Conserved Domains</option><option value="gap">dbGaP</option><option value="dbvar">dbVar</option><option value="gene">Gene</option><option value="genome">Genome</option><option value="gds">GEO DataSets</option><option value="geoprofiles">GEO Profiles</option><option value="gtr">GTR</option><option value="ipg">Identical Protein Groups</option><option value="medgen" data-ac_dict="medgen_disease_name">MedGen</option><option value="mesh" data-ac_dict="mesh_suggestions">MeSH</option><option value="nlmcatalog">NLM Catalog</option><option value="nuccore">Nucleotide</option><option value="omim">OMIM</option><option value="pmc">PMC</option><option value="protein">Protein</option><option value="proteinclusters">Protein Clusters</option><option value="protfam">Protein Family Models</option><option value="pcassay">PubChem BioAssay</option><option value="pccompound">PubChem Compound</option><option value="pcsubstance">PubChem Substance</option><option value="pubmed" data-ac_dict="pm_related_queries_2">PubMed</option><option value="snp">SNP</option><option value="sra">SRA</option><option value="structure">Structure</option><option value="taxonomy">Taxonomy</option><option value="toolkit">ToolKit</option><option value="toolkitall">ToolKitAll</option><option value="toolkitbookgh">ToolKitBookgh</option></optgroup></select><div class="nowrap"><label for="term" class="offscreen_noflow" accesskey="/">Search term</label><div class="nowrap"><input type="text" name="term" id="term" title="Search MedGen. Use up and down arrows to choose an item from the autocomplete." value="HP:0012444" class="jig-ncbiclearbutton jig-ncbiautocomplete" data-jigconfig="dictionary:'medgen_disease_name',disableUrl:'NcbiSearchBarAutoComplCtrl'" autocomplete="off" data-sbconfig="ds:'no',pjs:'yes',afs:'yes'" /></div><button id="search" type="submit" class="button_search nowrap" cmd="go">Search</button></div></div><ul class="searchlinks inline_list"><set></set><li><a name="SaveSearch" title="Click to create an email alert for this search" href="/sites/myncbi/searches/save?db=medgen&qk=6232" id="SaveSearch">Create alert</a></li><li><a sid="1" href="/medgen/limits?term=HP:0012444">Limits</a></li><li><a href="/medgen/advanced">Advanced</a></li><li class="help"><a id="help" class="jig-ncbihelpwindow" target="ncbihelp" name="help" href="/medgen/docs/help">Help</a></li></ul></div>
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<h3>See <a href="/gene/3240" ref="log$=genesensor10_gene&logdbfrom=medgen">HP haptoglobin</a> in the Gene database</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="genesensor" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.mg_GeneSensor.Shutter"></a>
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<p>hp reference sequences <a class="suppLink" ref="log$=genesensor10_RefSeq" href="/nuccore/?LinkName=gene_nuccore_refseqgene&from_uid=3240">Genomic (1)</a><a class="suppLink" ref="log$=genesensor10_RefSeq" href="/nuccore/?LinkName=gene_nuccore_refseqrna&from_uid=3240">Transcript (3)</a><a class="suppLink" ref="log$=genesensor10_RefSeq" href="/protein/?LinkName=gene_protein_refseq&from_uid=3240">Protein (3)</a></p>
|
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<p>See <a href="/medgen?term=hp%20%5Bgene%5D">hp in MedGen</a> (1)</p>
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||
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<div class="sensor" style="padding-top: 1em;"><a href="/medgen?term=HP%3A0012444%5BClinical%20Features%5D">See MedGen results with <strong>"HP:0012444"</strong> as a clinical feature (87)</a></div>
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<div class="pagination"><span title="Inactive first page of results" class="inactive page_link"><< First</span><span title="Inactive previous page of results" class="inactive page_link prev">< Prev</span><h3 class="page"><label for="pageno">Page </label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.cPage" id="pageno" type="text" class="num" sid="1" value="1" last="5" /> of 5</h3><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.Page" title="Next page of results" class="active page_link next" href="#" sid="3" page="2" accesskey="k" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.Page">Next ></a><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.Page" title="Last page of results" class="active page_link" href="#" sid="4" page="5" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.Page">Last >></a><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_Pager.CurrPage" sid="1" type="hidden" value="1" /></div>
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<div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox199606" class="ui-helper-hidden-accessible">Select item 199606</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="1" type="checkbox" id="UidCheckBox199606" value="199606" /><span>1.</span></div><div class="rslt"><p class="title"><a href="/medgen/199606" ref="ordinalpos=1&ncbi_uid=199606&link_uid=199606">Classic homocystinuria</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Homocystinuria caused by cystathionine ß-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disability). All four ? or only one ? of the systems can be involved; expressivity is variable for all of the clinical signs. It is not unusual for a previously asymptomatic individual to present in adult years with only a thromboembolic event that is often cerebrovascular. Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive homocystinuria is usually milder than the non-responsive variant. Thromboembolism is the major cause of early death and morbidity. IQ in individuals with untreated homocystinuria ranges widely, from 10 to 138. In B6-responsive individuals the mean IQ is 79 versus 57 for those who are B6-non-responsive. Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>199606</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.">C0751202</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0751202%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=199606" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=199606" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/236200" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=199606" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox61565" class="ui-helper-hidden-accessible">Select item 61565</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="2" type="checkbox" id="UidCheckBox61565" value="61565" /><span>2.</span></div><div class="rslt"><p class="title"><a href="/medgen/61565" ref="ordinalpos=2&ncbi_uid=61565&link_uid=61565">Spongy degeneration of central nervous system</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease (85%-90% of individuals) to the less severe atypical Canavan disease (10%-15%). Typical Canavan disease is characterized by neurodevelopmental impairment evident by ages three to five months, followed by neurodegeneration and developmental regression. The clinical course of atypical Canavan disease is more variable, with neurodevelopmental delay usually becoming evident in the first years of life and frequently followed by developmental regression later in childhood or adolescence. All individuals with Canavan disease have reduced life expectancy, with the majority surviving to age ten years and the minority living to adulthood. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>61565</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.">C0206307</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0206307%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=61565" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=61565" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/271900" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=61565" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox120612" class="ui-helper-hidden-accessible">Select item 120612</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="3" type="checkbox" id="UidCheckBox120612" value="120612" /><span>3.</span></div><div class="rslt"><p class="title"><a href="/medgen/120612" ref="ordinalpos=3&ncbi_uid=120612&link_uid=120612">Xeroderma pigmentosum, group F</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure) with marked freckle-like pigmentation of the face before age two years; Sunlight-induced ocular involvement (photophobia, severe keratitis, atrophy of the skin of the lids, ocular surface neoplasms); Greatly increased risk of sunlight-induced cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma) within the first decade of life. Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, progressive cognitive impairment, and ataxia). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120612</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.">C0268140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0268140%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=120612" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=120612" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/278760" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=120612" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1633287" class="ui-helper-hidden-accessible">Select item 1633287</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="4" type="checkbox" id="UidCheckBox1633287" value="1633287" /><span>4.</span></div><div class="rslt"><p class="title"><a href="/medgen/1633287" ref="ordinalpos=4&ncbi_uid=1633287&link_uid=1633287">Neu-Laxova syndrome 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Serine deficiency disorders include a spectrum of disease ranging from lethal prenatal-onset Neu-Laxova syndrome to serine deficiency with infantile, juvenile, or adult onset. Neu-Laxova syndrome is characterized by severe intrauterine growth deficiency, microcephaly, congenital bilateral cataracts, characteristic dysmorphic features, limb anomalies, and collodion-like ichthyosis. Infants are typically stillborn or die in early infancy. Infantile-onset serine deficiency is characterized by seizures, microcephaly, developmental delay, intellectual disability, and spastic quadriplegia. Individuals that present with juvenile-onset serine deficiency have seizures and many develop spastic quadriplegia. Adult-onset serine deficiency is characterized by progressive axonal polyneuropathy with ataxia and possible cognitive impairment. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633287</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.">C4551478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4551478%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1633287" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1633287" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/256520" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1633287" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox325051" class="ui-helper-hidden-accessible">Select item 325051</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="5" type="checkbox" id="UidCheckBox325051" value="325051" /><span>5.</span></div><div class="rslt"><p class="title"><a href="/medgen/325051" ref="ordinalpos=5&ncbi_uid=325051&link_uid=325051">CARASIL syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no symptoms and others manifest with the more severe CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy) phenotype. Those who have a heterozygous HTRA1 pathogenic variant may have mild neurologic findings (sometimes identified only on neuroimaging) or mild-to-moderate neurologic signs and symptoms of CARASIL. In this chapter, the term "classic CARASIL" refers to the more severe phenotype associated with biallelic pathogenic variants, and "HTRA1 cerebral small vessel disease" (HTRA1-CSVD) refers to the milder phenotype associated with a heterozygous HTRA1 pathogenic variant. Classic CARASIL is characterized by early-onset changes in the deep white matter of the brain observed on MRI, and associated neurologic findings. The most frequent initial symptom is gait disturbance from spasticity beginning between ages 20 and 40 years. Forty-four percent of affected individuals have stroke-like episodes before age 40 years. Mood changes (apathy and irritability), pseudobulbar palsy, and cognitive dysfunction begin between ages 20 and 50 years. The disease progresses slowly following the onset of neurologic symptoms. Scalp alopecia and acute mid- to lower-back pain (lumbago) before age 30 years are characteristic. The most frequent initial symptom in individuals with HTRA1-CSVD is slowly progressive gait disturbance after age 40 years, which may be followed by the development of mood changes and cognitive dysfunction. A majority of affected individuals have a stroke-like episode after age 40 years. Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325051</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.">C1838577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1838577%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=325051" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=325051" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/600142" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=325051" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1641069" class="ui-helper-hidden-accessible">Select item 1641069</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="6" type="checkbox" id="UidCheckBox1641069" value="1641069" /><span>6.</span></div><div class="rslt"><p class="title"><a href="/medgen/1641069" ref="ordinalpos=6&ncbi_uid=1641069&link_uid=1641069">Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Inclusion body myopathy associated with Paget disease of bone (PDB) and/or frontotemporal dementia (IBMPFD) is characterized by adult-onset proximal and distal muscle weakness (clinically resembling a limb-girdle muscular dystrophy syndrome), early-onset PDB, and premature frontotemporal dementia (FTD). Muscle weakness progresses to involve other limb and respiratory muscles. PDB involves focal areas of increased bone turnover that typically lead to spine and/or hip pain and localized enlargement and deformity of the long bones; pathologic fractures occur on occasion. Early stages of FTD are characterized by dysnomia, dyscalculia, comprehension deficits, and paraphasic errors, with minimal impairment of episodic memory; later stages are characterized by inability to speak, auditory comprehension deficits for even one-step commands, alexia, and agraphia. Mean age at diagnosis for muscle disease and PDB is 42 years; for FTD, 56 years. Dilated cardiomyopathy, amyotrophic lateral sclerosis, and Parkinson disease are now known to be part of the spectrum of findings associated with IBMPFD. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641069</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.">C4551951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4551951%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1641069" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1641069" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/167320" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=1641069" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox370596" class="ui-helper-hidden-accessible">Select item 370596</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="7" type="checkbox" id="UidCheckBox370596" value="370596" /><span>7.</span></div><div class="rslt"><p class="title"><a href="/medgen/370596" ref="ordinalpos=7&ncbi_uid=370596&link_uid=370596">Pontocerebellar hypoplasia type 6</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem and associated with severe developmental delay (Edvardson et al., 2007). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>370596</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.">C1969084</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1969084%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=370596" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=370596" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/611523" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox873604" class="ui-helper-hidden-accessible">Select item 873604</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="8" type="checkbox" id="UidCheckBox873604" value="873604" /><span>8.</span></div><div class="rslt"><p class="title"><a href="/medgen/873604" ref="ordinalpos=8&ncbi_uid=873604&link_uid=873604">3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The phenotypic spectrum of SERAC1 deficiency comprises MEGD(H)EL syndrome (3-methylglutaconic aciduria with deafness-dystonia, [hepatopathy], encephalopathy, and Leigh-like syndrome), juvenile-onset complicated hereditary spastic paraplegia (in 1 consanguineous family), and adult-onset generalized dystonia (in 1 adult male). MEGD(H)EL syndrome is characterized in neonates by hypoglycemia and a sepsis-like clinical picture for which no infectious agent can be found. During the first year of life feeding problems, failure to thrive, and/or truncal hypotonia become evident; many infants experience (transient) liver involvement ranging from undulating transaminases to prolonged hyperbilirubinemia and near-fatal liver failure. By age two years progressive deafness, dystonia, and spasticity prevent further psychomotor development and/or result in loss of acquired skills. Affected children are completely dependent on care for all activities of daily living; speech is absent. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>873604</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.">C4040739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4040739%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=873604" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=873604" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/614739" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=873604" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox382611" class="ui-helper-hidden-accessible">Select item 382611</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="9" type="checkbox" id="UidCheckBox382611" value="382611" /><span>9.</span></div><div class="rslt"><p class="title"><a href="/medgen/382611" ref="ordinalpos=9&ncbi_uid=382611&link_uid=382611">Intellectual disability, autosomal dominant 5</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">SYNGAP1-related intellectual disability (SYNGAP1-ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), generalized epilepsy (~84%), and autism spectrum disorder (ASD) and other behavioral abnormalities (=50%). To date more than 50 individuals with SYNGAP1-ID have been reported. In the majority DD/ID was moderate to severe; in some it was mild. The epilepsy is generalized; a subset of individuals with epilepsy have myoclonic astatic epilepsy (Doose syndrome) or epilepsy with myoclonic absences. Behavioral abnormalities can include stereotypic behaviors (e.g., hand flapping, obsessions with certain objects) as well as poor social development. Feeding difficulties can be significant in some. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382611</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.">C2675473</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2675473%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=382611" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=382611" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/612621" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=382611" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1746744" class="ui-helper-hidden-accessible">Select item 1746744</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="10" type="checkbox" id="UidCheckBox1746744" value="1746744" /><span>10.</span></div><div class="rslt"><p class="title"><a href="/medgen/1746744" ref="ordinalpos=10&ncbi_uid=1746744&link_uid=1746744">IFAP syndrome 1, with or without BRESHECK syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1746744</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.">C5399971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C5399971%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1746744" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1746744" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/308205" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox66320" class="ui-helper-hidden-accessible">Select item 66320</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="11" type="checkbox" id="UidCheckBox66320" value="66320" /><span>11.</span></div><div class="rslt"><p class="title"><a href="/medgen/66320" ref="ordinalpos=11&ncbi_uid=66320&link_uid=66320">Cerebrooculofacioskeletal syndrome 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66320</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.">C0220722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C0220722%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=66320" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=66320" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/214150" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox1748867" class="ui-helper-hidden-accessible">Select item 1748867</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="12" type="checkbox" id="UidCheckBox1748867" value="1748867" /><span>12.</span></div><div class="rslt"><p class="title"><a href="/medgen/1748867" ref="ordinalpos=12&ncbi_uid=1748867&link_uid=1748867">Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1748867</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.">C5399977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C5399977%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=1748867" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=1748867" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/604377" target="_blank">OMIM</a></li>
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||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox443957" class="ui-helper-hidden-accessible">Select item 443957</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="13" type="checkbox" id="UidCheckBox443957" value="443957" /><span>13.</span></div><div class="rslt"><p class="title"><a href="/medgen/443957" ref="ordinalpos=13&ncbi_uid=443957&link_uid=443957">COG1 congenital disorder of glycosylation</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>443957</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.">C2931011</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C2931011%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=443957" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=443957" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/611209" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=443957" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox766874" class="ui-helper-hidden-accessible">Select item 766874</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="14" type="checkbox" id="UidCheckBox766874" value="766874" /><span>14.</span></div><div class="rslt"><p class="title"><a href="/medgen/766874" ref="ordinalpos=14&ncbi_uid=766874&link_uid=766874">Peroxisome biogenesis disorder 8B</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX16 gene have cells of complementation group 9 (CG9, equivalent to CGD). For information on the history of PBD complementation groups, see 214100. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766874</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.">C3553960</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C3553960%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=766874" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=766874" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/614877" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox767109" class="ui-helper-hidden-accessible">Select item 767109</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="15" type="checkbox" id="UidCheckBox767109" value="767109" /><span>15.</span></div><div class="rslt"><p class="title"><a href="/medgen/767109" ref="ordinalpos=15&ncbi_uid=767109&link_uid=767109">Developmental and epileptic encephalopathy, 14</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). EIMFS is characterized by seizures, typically focal and asynchronous, beginning in the first six months of life with associated developmental plateau or regression. Autonomic manifestations (e.g., perioral cyanosis, flushing, apnea) are common. Seizures are intractable to multiple anticonvulsants and progress to become nearly continuous by age six to nine months. ADNFLE is characterized by clusters of nocturnal motor seizures that vary from simple arousals to hyperkinetic events with tonic or dystonic features. Individuals with KCNT1-related ADNFLE are more likely to develop seizures at a younger age, have cognitive comorbidity, and display psychiatric and behavioral problems than individuals with ADNFLE resulting from other causes. Less common seizure phenotypes in individuals with KCNT1-related epilepsy include West syndrome, Ohtahara syndrome, early myoclonic encephalopathy, leukodystrophy and/or leukoencephalopathy, focal epilepsy, and multifocal epilepsy. Additional neurologic features include hypotonia, microcephaly developing by age 12 months, strabismus, profound developmental delay, and additional movement disorders. Other systemic manifestations including pulmonary hemorrhage caused by prominent systemic-to-pulmonary collateral arteries or cardiac arrhythmia have been reported. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767109</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.">C3554195</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C3554195%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=767109" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=767109" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/614959" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=767109" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox902729" class="ui-helper-hidden-accessible">Select item 902729</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="16" type="checkbox" id="UidCheckBox902729" value="902729" /><span>16.</span></div><div class="rslt"><p class="title"><a href="/medgen/902729" ref="ordinalpos=16&ncbi_uid=902729&link_uid=902729">Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described: The most common phenotype presents in the neonatal period with severe encephalopathy and lactic acidosis and later manifests Leigh-like signs and symptoms. Those with presentation in the neonatal period typically have severe hypotonia, encephalopathy, or neonatal seizures within the first few days of life. Signs and symptoms typically progress quickly and the affected individual ultimately succumbs to central apnea or arrhythmia. A second group of affected individuals present in infancy with developmental regression resulting in severe developmental delay. A third group of affected individuals have normal development with isolated paroxysmal dystonia that may be exacerbated by illness or exertion. Across all three groups, T2 hyperintensity in the basal ganglia is very common, and may affect any part of the basal ganglia. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902729</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.">C4225391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4225391%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=902729" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=902729" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/616277" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=902729" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox482486" class="ui-helper-hidden-accessible">Select item 482486</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="17" type="checkbox" id="UidCheckBox482486" value="482486" /><span>17.</span></div><div class="rslt"><p class="title"><a href="/medgen/482486" ref="ordinalpos=17&ncbi_uid=482486&link_uid=482486">Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482486</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.">C3280856</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C3280856%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=482486" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=482486" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/614457" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox934599" class="ui-helper-hidden-accessible">Select item 934599</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="18" type="checkbox" id="UidCheckBox934599" value="934599" /><span>18.</span></div><div class="rslt"><p class="title"><a href="/medgen/934599" ref="ordinalpos=18&ncbi_uid=934599&link_uid=934599">Epilepsy, early-onset, vitamin B6-dependent</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">PLPBP deficiency is a treatable form of vitamin B6-dependent early-onset epileptic encephalopathy. Seizure onset is typically in the neonatal period (i.e., within the first 28 days after birth), and rarely in childhood after the neonatal period. Seizures are unresponsive to (or only partly responsive to) anti-seizure medications (ASMs) but typically show an immediate positive response to vitamin B6, given as either pyridoxine (PN) or pyridoxal 5'-phosphate (PLP). This therapy needs to be continued lifelong. In addition to vitamin B6 treatment, almost 60% of individuals require adjunct ASMs to achieve optimal seizure control. Although many individuals with PLPBP deficiency have normal motor, speech, and intellectual development, more than 50% have varying degrees of neurodevelopmental issues, including learning difficulties or intellectual disability (varying from mild to severe), delayed or absent speech development, or motor development abnormalities (most commonly mild hypotonia). [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934599</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.">C4310632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4310632%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=934599" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=934599" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/617290" target="_blank">OMIM</a></li>
|
||
<li><a href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=934599" target="_blank"><i>GeneReviews</i></a></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox335505" class="ui-helper-hidden-accessible">Select item 335505</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="19" type="checkbox" id="UidCheckBox335505" value="335505" /><span>19.</span></div><div class="rslt"><p class="title"><a href="/medgen/335505" ref="ordinalpos=19&ncbi_uid=335505&link_uid=335505">Multiple epiphyseal dysplasia, Al-Gazali type</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Al-Gazali-Bakalinova syndrome (AGBK) is characterized by multiple epiphyseal dysplasia, macrocephaly, and distinctive facial features including frontal bossing, hypertelorism, flat malar regions, low-set ears, and short neck. Other features include pectus excavatum, spindle-shaped fingers, clinodactyly, prominent joints, and genu valgum (summary by Ali et al., 2012). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335505</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.">C1846722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C1846722%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=335505" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=335505" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/607131" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
||
</div></div></div></div><div class="rprt"><div class="rprtnum nohighlight"><label for="UidCheckBox934642" class="ui-helper-hidden-accessible">Select item 934642</label><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_RVDocSum.uid" sid="20" type="checkbox" id="UidCheckBox934642" value="934642" /><span>20.</span></div><div class="rslt"><p class="title"><a href="/medgen/934642" ref="ordinalpos=20&ncbi_uid=934642&link_uid=934642">Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1</a></p><div class="supp"><p class="rprtbody"><span class="concept-def">Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016). Genetic Heterogeneity of PEBEL See also PEBEL2 (618321), caused by mutation in the NAXD gene (615910) on chromosome 13q34. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</span><br /></p><div class="spaceAboveSmall"><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934642</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.">C4310675</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div><div>
|
||
<ul class="db_links"><li><a href="/gtr/tests/?term=C4310675%5bDISCUI%5d" target="_blank">GTR</a></li>
|
||
<li><a href="/clinvar?LinkName=medgen_clinvar&from_uid=934642" target="_blank">ClinVar</a></li>
|
||
<li><a href="/gene?LinkName=medgen_gene_diseases&from_uid=934642" target="_blank">Genes</a></li>
|
||
<li><a href="http://www.omim.org/entry/617186" target="_blank">OMIM</a></li>
|
||
<li><span class="inactive"><i>GeneReviews</i></span></li></ul>
|
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jQuery("#sendto2").bind("ncbipopperclose", function(){
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jQuery("#send_to_menu2 div.submenu:visible").css("display","none");
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</script></h4><div id="send_to_menu2" class="tabPopper send_to"><fieldset><legend>Choose Destination</legend><ul class="column_list"><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="11" value="File" id="dest_File2" /><label for="dest_File2">File</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="12" value="AddToClipboard" id="dest_AddToClipboard2" /><label for="dest_AddToClipboard2">Clipboard</label></li><li><input type="radio" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendTo" sid="13" value="AddToCollections" id="dest_AddToCollections2" /><label for="dest_AddToCollections2">Collections</label></li></ul></fieldset><div class="submenu file" id="submenu_File2" style="display: none;"><p id="submenu_File_hint2" class="hidden"></p><ul><li><label for="file_format2">Format</label><select id="file_format2" name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.FFormat2" sid="101"><option value="DocSum" format="text" selected="selected">Summary (text)</option><option value="XML" format="text">XML</option></select></li></ul><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="11" class="button_apply file ncbipopper-close-button" type="submit" cmd="File">Create File</button></div><div class="submenu addtoclipboard" id="submenu_AddToClipboard2" style="display: none;"><p id="submenu_AddToClipboard_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="12" class="button_apply clipboard ncbipopper-close-button" type="submit" cmd="AddToClipboard">Add to Clipboard</button></div><div class="submenu addtocollections" id="submenu_AddToCollections2" style="display: none;"><p id="submenu_AddToCollections_hint2" class="hidden"></p><button name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_DisplayBar.SendToSubmit" sid="13" class="button_apply collections ncbipopper-close-button" type="submit" cmd="AddToCollections">Add to Collections</button></div></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="filters app_msg"><p><strong>Filter your results:</strong></p><ul class="portlet_list"><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter" filter="all" sid="1" href="#" title="Total Results" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter">All (88)</a></li><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter" filter="in_gtr" sid="2" href="#" title="Records discoverable in the Genetic Testing Registry (GTR)" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter">Records in GTR (88)</a></li><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter" filter="medgen_omim" sid="3" href="#" title="Records in MedGen with counterparts in OMIM" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter">Records in OMIM (87)</a></li><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter" filter="diseases" sid="4" href="#" title="Records in MedGen with the disease property set." id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter">Diseases (88)</a></li><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter" filter="medgen_orphanet" sid="5" href="#" title="Records with data from Orphanet" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter">Records in Orphanet (23)</a></li><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter" filter="medgen_hpo" sid="6" href="#" title="Records with data from the Human Phenotype Ontology[HPO]" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter">Records in HPO (1)</a></li><li><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter" filter="medgen_mondo" sid="7" href="#" title="Records with data from the Monarch Initiative" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Filter">Records in Mondo (87)</a></li><li class="filter_selected"><a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Pin" filter="clinical" class="no_back" sid="1" href="#" title="Add this filter to your search term." id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.Pin"><img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/26196" alt="add" id="FilterTabPin" /></a><a title="Subset of diseases and clinical features with rich support">Recommended for clinicians (86) </a></li></ul><ul class="inline_list app_msg_controls"><li><a href="/sites/myncbi/medgen/filters">Manage Filters</a></li></ul><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.CurrFilter" sid="1" type="hidden" value="clinical" /><input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_FiltersPortlet.LastFilter" sid="1" type="hidden" value="clinical" /></div>
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<div class="portlet_title">
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<h3>Find related data</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="RelatedDataLinks" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Entrez_MultiItemSupl.RelatedDataLinks.Shutter"></a>
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<div class="portlet_content">
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<option value="books">Books</option>
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<option value="clinvar">ClinVar</option>
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<option value="gap">dbGaP</option>
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<option value="gene">Gene</option>
|
||
<option value="gtr">GTR</option>
|
||
<option value="mesh">MeSH</option>
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||
<option value="omim">OMIM</option>
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<option value="pmc">PMC</option>
|
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</select>
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<h3>Search details</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Discovery_SearchDetails" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails.Shutter"></a>
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</div>
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<div class="portlet_content">
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<textarea name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.Discovery_SearchDetails.SearchDetailsTerm" sid="1" class="searchdetails_term" cols="30" rows="5" db="medgen">"HP:0012444"[All Fields]</textarea>
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<a class="seemore" href="/medgen/details?querykey=6232" ref="log$=details">
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See more...
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<div id="HTDisplay" class="">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn Off
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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Turn On
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</div>
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<ul id="activity">
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<li class="ra_qry two_line">
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<a class="htb" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67c8c71af4a390645eaf0e97">"HP:0012444" <span class="number">(88)</span></a>
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<div class="tertiary">MedGen</div>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67c8c719ab82281a80b83807">Primary familial hypertrophic cardiomyopathy</a>
|
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<div class="ralinkpop offscreen_noflow">Primary familial hypertrophic cardiomyopathy<div class="brieflinkpopdesc"></div></div>
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||
<div class="tertiary">MedGen</div>
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</li>
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<li class="ra_qry two_line">
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<a class="htb" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67c8c717b15b832ebc8de109">PS192600 <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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</li>
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<li class="ra_qry two_line">
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<a class="htb" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67c8c717b15b832ebc8ddf6b">(192600[MIM]) OR (192600[UID]) <span class="number">(4)</span></a>
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<div class="tertiary">MedGen</div>
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</li>
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<li class="ra_rcd ralinkpopper two_line">
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67c8c716ab82281a80b82396">Glanzmann thrombasthenia</a>
|
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<div class="ralinkpop offscreen_noflow">Glanzmann thrombasthenia<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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</li>
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<p class="HTOff">Activity recording is turned off.</p>
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<p id="turnOn" class="HTOff">
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