loading...| Preferred Name | Wolfram Syndrome | |
| Synonyms |
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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://purl.obolibrary.org/obo/NCIT_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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| Contributing_Source |
Cellosaurus NICHD |
|
| 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. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Wolfram Syndrome |
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| Legacy Concept Name |
Wolfram_Syndrome |
|
| Preferred_Name |
Wolfram Syndrome |
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| prefixIRI |
NCIT:C35133 |
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| prefLabel |
Wolfram Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0043207 |
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| subClassOf |