Deafness, autosomal dominant 1, with or without thrombocytopenia

Preferred Label : Deafness, autosomal dominant 1, with or without thrombocytopenia;

Symbol : DFNA1;

CISMeF acronym : DFNA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Konigsmark syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the diaphanous-related formin 1 gene (DIAPH1, 602121.0001);

Prefixed ID : #124900;

Details

Origin ID

124900;

UMLS CUI

C1852282;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic sensorineural deafness type DFNA [ORDO Disease]
- symbol withdrawn DFNA1 [HGNC gene]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome [ORDO Disease]
- Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- autosomal dominant nonsyndromic deafness 1 [DO Concept]
- deafness, autosomal dominant 1 [MeSH concept]
- deafness, autosomal dominant 1 [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 1 [DO Concept]
Genes related to phenotype
- Diaphanous-related formin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Childhood onset [HPO term]
- Low-frequency hearing loss [HPO term]
- Progressive hearing impairment [HPO term]
- Sensorineural hearing impairment [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nonsyndromic deafness 1 [DO Concept]
- deafness, autosomal dominant 1 [MeSH Supplementary Concept]
- deafness, autosomal dominant 1 [MeSH concept]

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