Wolfram syndrome 1

Preferred Label : Wolfram syndrome 1;

Symbol : WFS1;

CISMeF acronym : DIDMOAD; WFS; WFS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diabetes insipidus and mellitus with optic atrophy and deafness; WFS; DIDMOAD;

Description : Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011). Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (600965) as well as a Wolfram syndrome-like phenotype (614296) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. - Genetic Heterogeneity of Wolfram Syndrome Wolfram syndrome-2 (WFS2; 604928) is caused by mutation in the CISD2 gene (611507) on chromosome 4q22-q24. See 598500 for a possible mitochondrial form of Wolfram syndrome.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wolframin gene (WFS1, 222300.0001);

Prefixed ID : #222300;

Details

Origin ID

222300;

UMLS CUI

C4551693;

Automatic exact mappings (from CISMeF team)
- WFS1 gene [LOINC component]
- Wallis and Futuna [NCIt concept]
- wolframin ER transmembrane glycoprotein [ORDO Gene]
- wolframin ER transmembrane glycoprotein [HGNC gene]
Broader ORDO disease(s)
- Wolfram syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) [SNOMED CT concept]
- Wolfram Syndrome [NCIt concept]
- Wolfram syndrome [DO Concept]
- Wolfram syndrome 1 [DO Concept]
- diabetes mellitus and insipidus with optic atrophy and deafness [SNOMED Notion]
- wolfram syndrome [MeSH Descriptor]
- wolfram syndrome [MeSH concept]
DO Cross reference
- Wolfram syndrome 1 [DO Concept]
Genes related to phenotype
- Wolframin er transmembrane glycoprotein [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Cardiomyopathy [HPO term]
- Cerebral atrophy [HPO term]
- Diabetes insipidus [HPO term]
- Diabetes mellitus [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Growth delay [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hypothyroidism [HPO term]
- Intellectual disability [HPO term]
- Limited mobility of proximal interphalangeal joint [HPO term]
- Megaloblastic anemia [HPO term]
- Neurogenic bladder [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sideroblastic anemia [HPO term]
- Stroke-like episode [HPO term]
- Testicular atrophy [HPO term]
- Thrombocytopenia [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Wolfram syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) [SNOMED CT concept]
- Wolfram Syndrome [NCIt concept]
- Wolfram syndrome [ORDO Disease]
- Wolfram syndrome [DO Concept]
- Wolfram syndrome [PASCAL descriptor]
- Wolfram syndrome [Disease (Nov.)]
- Wolfram syndrome 1 [DO Concept]
- diabetes mellitus and insipidus with optic atrophy and deafness [SNOMED Notion]
- wolfram syndrome [MeSH Descriptor]
- wolfram syndrome [MeSH concept]

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