01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Wolfram Syndrome 1
- Standard Disease Name
- wolfram syndrome 1
- MeSH Tree
- No data
- ICD-10
- E13.8
Identifiers
- DO ID
- No data
- MeSH ID
- D014929
- OMIM ID
- 222300|604928|598500|222300
- UMLS ID
- C0043207
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D: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.|MSH2017_2016_08_12:A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.|JABL99:A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.