Acne inversa, familial, 3

Preferred Label : Acne inversa, familial, 3;

Symbol : ACNINV3;

CISMeF acronym : ACNINV3;

Type : Phenotype, molecular basis known;

Description : Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). For a general phenotypeic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the presenilin 1 gene (PSEN1, 104311.0038);

Prefixed ID : #613737;

Details

Origin ID

613737;

UMLS CUI

C3151038;

DO Cross reference
- hidradenitis suppurativa [DO Concept]
Genes related to phenotype
- Presenilin 1 [OMIM gene]
HPO term(s)
- Acne inversa [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic furunculosis [HPO term]
- Perifolliculitis [HPO term]
- Recurrent cutaneous abscess formation [HPO term]
ORDO concept(s)
- Hidradenitis suppurativa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hidradenitis suppurativa [ORDO Disease]
- hidradenitis suppurativa [DO Concept]

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