Wolfram Syndrome

Preferred Label : Wolfram Syndrome;

NCIt synonyms : DIDMOAD;

NCIt related terms : Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness Syndrome;

NCIt 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.;

Alternative definition : NICHD: 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.;

Details

Origin ID

C35133;

UMLS CUI

C0043207;

Automatic exact mappings (from CISMeF team)
- Wolfram syndrome [ICD-11 More detail]
- Wolfram syndrome [MedDRA Preferred Term]
- wolframin ER transmembrane glycoprotein [ORDO Gene]
Currated CISMeF NLP mapping
- Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) [SNOMED CT concept]
- Wolfram syndrome [PASCAL descriptor]
- Wolfram syndrome [DO Concept]
- Wolfram syndrome [Disease (Nov.)]
- Wolfram syndrome [ORDO Disease]
- Wolfram syndrome 1 [DO Concept]
- Wolfram syndrome 1 [OMIM Phenotype]
- diabetes mellitus and insipidus with optic atrophy and deafness [SNOMED Notion]
- wolfram syndrome [MeSH Descriptor]
- wolfram syndrome [MeSH concept]
DO Cross reference
- Wolfram syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DIDMOAD syndrome [MedDRA LLT]
- Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) [SNOMED CT concept]
- Wolfram syndrome [ORDO Disease]
- Wolfram syndrome [PASCAL descriptor]
- Wolfram syndrome [DO Concept]
- Wolfram syndrome [Disease (Nov.)]
- Wolfram syndrome [MedDRA Preferred Term]
- Wolfram syndrome 1 [OMIM Phenotype]
- Wolfram syndrome 1 [DO Concept]
- diabetes mellitus and insipidus with optic atrophy and deafness [SNOMED Notion]
- wolfram syndrome [MeSH concept]
- wolfram syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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