Deafness, autosomal dominant 34, with or without inflammation

Preferred Label : Deafness, autosomal dominant 34, with or without inflammation;

Symbol : DFNA34;

CISMeF acronym : DFNA34;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NLR family, pyrin domain-containing 3 gene (NLRP3, 606416.0011);

Laboratory abnormalities : Increased serum markers of systemic inflammation (in some patients);

Prefixed ID : #617772;

Details

Origin ID

617772;

UMLS CUI

C4521680;

Currated CISMeF NLP mapping
- autosomal dominant nonsyndromic deafness 34 [DO Concept]
DO Cross reference
- autosomal dominant nonsyndromic deafness 34 [DO Concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 3 [OMIM gene]
HPO term(s)
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Conjunctivitis [HPO term]
- Fever [HPO term]
- Headache [HPO term]
- Lymphadenopathy [HPO term]
- Periodic fever [HPO term]
- Slowly progressive [HPO term]
- Urticaria [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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