Hailey-hailey disease

Preferred Label : Hailey-hailey disease;

Symbol : HHD;

CISMeF acronym : HHD; BCPM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BCPM; Benign chronic pemphigus; Pemphigus, benign familial;

Description : Recurrent eruption of vesicles and bullae involving predominantly the neck, groin, and axillary regions is characteristic of this disorder. Histologic examination shows numerous acantholytic cells and the suprabasal type of blister formation strikingly resembling that in pemphigus vulgaris malignus. This disorder, which appears to represent a defect in keratinocyte cohesion, was first described by the dermatologist brothers Hailey and Hailey (1939).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Ca(2 )-transporting, type 2C, member 1 gene (ATP2C1, 604384.0001);

Prefixed ID : #169600;

Détails

Origin ID

169600;

UMLS CUI

C0085106;

Automatic exact mappings (from CISMeF team)
- Hypertensive heart disease [ICD-11 Category]
- symbol withdrawn BCPM [HGNC gene]
Currated CISMeF NLP mapping
- Benign familial chronic pemphigus [MedDRA LLT]
- Benign familial pemphigus [MedDRA Preferred Term]
- Familial Benign Pemphigus [NCIt concept]
- Familial benign chronic pemphigus [ORDO Disease]
- Familial benign pemphigus [MedDRA LLT]
- Familial benign pemphigus (disorder) [SNOMED CT concept]
- Hailey Hailey disease [PASCAL descriptor]
- Hailey-Hailey disease [DO Concept]
- Hailey-Hailey disease [ICD-11 More detail]
- Hailey-Hailey disease [MedDRA LLT]
- benign familial pemphigus [Disease (Nov.)]
- familial benign pemphigus [SNOMED Notion]
- pemphigus, benign familial [MeSH Descriptor]
- pemphigus, benign familial [MeSH concept]
DO Cross reference
- Hailey-Hailey disease [DO Concept]
Genes related to phenotype
- Atpase, ca(2+)-transporting, type 2c, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Erythema [HPO term]
- Histological abnormality of the skin [HPO term]
ORDO concept(s)
- Familial benign chronic pemphigus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Benign familial chronic pemphigus [MedDRA LLT]
- Benign familial pemphigus [MedDRA Preferred Term]
- Familial Benign Pemphigus [NCIt concept]
- Familial benign chronic pemphigus [ORDO Disease]
- Familial benign pemphigus [MedDRA LLT]
- Familial benign pemphigus (disorder) [SNOMED CT concept]
- Hailey Hailey disease [PASCAL descriptor]
- Hailey-Hailey disease [MedDRA LLT]
- Hailey-Hailey disease [DO Concept]
- Hailey-Hailey disease [ICD-11 More detail]
- benign familial pemphigus [Disease (Nov.)]
- familial benign pemphigus [SNOMED Notion]
- pemphigus, benign familial [MeSH Descriptor]
- pemphigus, benign familial [MeSH concept]

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