Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Deaf-Blind Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Optic Atrophies, Hereditary
Nervous System Diseases
Neurodegenerative Diseases
Heredodegenerative Disorders, Nervous System
Optic Atrophies, Hereditary
Preferred term
Wolfram Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness
- Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness
- DIDMOAD
- DIDMOAD Syndrome
- DIDMOADUD
Scope note
- 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.
History note
- 86
In other languages
-
Finnish
-
Syndroma Wolfram
-
Wolfram
-
Wolframin syndrooma
-
Swedish
URI
http://www.yso.fi/onto/mesh/D014929
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