Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Eye Diseases, Hereditary
Optic Atrophies, Hereditary
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
-
mesh:Descriptor
Definition
- 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.
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
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
-
French
-
Diabète insipide-diabète sucré-atrophie optique-surdité
-
DIDMOAD
-
Syndrome de Wolfram de type 1
URI
http://data.loterre.fr/ark:/67375/JVR-KJ1V2CQT-J
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