Acne inversa, familial, 1

Preferred Label : Acne inversa, familial, 1;

Symbol : ACNINV1;

CISMeF acronym : ACNINV1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hidradenitis suppurativa, familial; Acne inversa, familial;

Description : Acne inversa is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. Healing occurs with substantial scarring. The prevalence of acne inversa has been estimated at 1 in 100 to 1 in 600. The female-to-male ratio in most published series is between 2:1 and 5:1 (Jansen et al., 2001). Jansen et al. (2001) provided a detailed history and review of the disorder. - Genetic Heterogeneity of Familial Acne Inversa Familial acne inversa-2 (ACNINV2; 613736) is caused by haploinsufficiency for the PSENEN gene (607632) on chromosome 19q13.1. Familial acne inversa-3 (ACNINV3; 613737) is caused by haploinsufficiency for the PSEN1 gene (104311) on chromosome 14q24.3, making this disorder allelic to early-onset Alzheimer disease (607822).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the nicastrin gene (NCSTN, 605254.0001);

Prefixed ID : #142690;

Details

Origin ID

142690;

UMLS CUI

C4551962;

Automatic exact mappings (from CISMeF team)
- Hidradenitis suppurativa [ORDO Disease]
- hidradenitis suppurativa [DO Concept]
DO Cross reference
- hidradenitis suppurativa [DO Concept]
Genes related to phenotype
- Nicastrin [OMIM gene]
HPO term(s)
- Acne inversa [HPO term]
- Atypical scarring of skin [HPO term]
- Autosomal dominant inheritance [HPO term]
- Histological abnormality of the skin [HPO term]
ORDO concept(s)
- Hidradenitis suppurativa [ORDO Disease]
See also inter- (CISMeF)
- hidradenitis suppurativa, familial [MeSH concept]
- hidradenitis suppurativa, familial [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hidradenitis suppurativa, familial [MeSH Supplementary Concept]
- hidradenitis suppurativa, familial [MeSH concept]

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