loading...| Preferred Name | Wolfram Syndrome | |
| Synonyms |
Wolfram Syndrome Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness Syndrome DIDMOAD |
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| Definitions |
A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35133 |
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| ALT_DEFINITION |
A neurodegenerative condition due to recessive mutation(s) in the WFS1 gene, encoding the membrane glycoprotein wolframin, and the CISD2 gene, encoding CDGSH iron sulfur domain protein 2 (or endoplasmic reticulum intermembrane small protein). This condition is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Additional clinical features may include renal anomalies, ataxia, intellectual impairment, and psychiatric illnesses. A similar condition may be caused by mutations in mitochondrial DNA. |
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| code |
C35133 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
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| Contributing_Source |
Cellosaurus NICHD |
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| DEFINITION |
A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. |
|
| FULL_SYN |
Wolfram Syndrome Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness Syndrome DIDMOAD |
|
| label |
Wolfram Syndrome |
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| Legacy Concept Name |
Wolfram_Syndrome |
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| Preferred_Name |
Wolfram Syndrome |
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| prefixIRI |
Thesaurus:C35133 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0043207 |
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| subClassOf |