Wolfram-like syndrome, autosomal dominant

Preferred Label : Wolfram-like syndrome, autosomal dominant;

Symbol : WFSL;

CISMeF acronym : WFSL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation;

Description : This autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges (summary by Valero et al., 2008). Wolfram syndrome (WFS1; 222300) is an autosomal recessive allelic disorder characterized by optic atrophy, diabetes mellitus, hearing loss, and diabetes insipidus, and is caused by homozygous or compound heterozygous mutation in the WFS1 gene. An autosomal dominant syndrome involving optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (125250), is caused by heterozygous mutation in the OPA1 gene (605290).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the wolframin gene (WFS1, 606201.0020);

Prefixed ID : #614296;

Details

Origin ID

614296;

UMLS CUI

C3280358;

Automatic exact mappings (from CISMeF team)
- Wolfram-like syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Wolfram-Like syndrome, autosomal dominant [MeSH concept]
- Wolfram-Like syndrome, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant Wolfram syndrome [DO Concept]
Genes related to phenotype
- Wolframin er transmembrane glycoprotein [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Depression [HPO term]
- Diabetes mellitus [HPO term]
- Glaucoma [HPO term]
- Glucose intolerance [HPO term]
- Hallucinations [HPO term]
- Hearing impairment [HPO term]
- Impaired glucose tolerance [HPO term]
- Optic atrophy [HPO term]
- Psychosis [HPO term]
- Schizophrenia [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Wolfram-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wolfram-Like syndrome, autosomal dominant [MeSH Supplementary Concept]
- Wolfram-Like syndrome, autosomal dominant [MeSH concept]
- Wolfram-like syndrome [ORDO Disease]

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