Erythrokeratodermia variabilis et progressiva 1

Preferred Label : Erythrokeratodermia variabilis et progressiva 1;

Symbol : EKVP1;

CISMeF acronym : EKVP; EKV; PSEK; EKVP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Erythrokeratodermia variabilis et progressiva; Erythrokeratodermia variabilis; Erythrokeratodermia, progressive symmetric; Erythrokeratodermia figurata, congenital familial, in plaques; Erythrokeratodermia variabilis with erythema gyratum repens; EKVP; EKV; PSEK;

Included titles and symbols : Greither disease; Keratosis palmoplantaris transgrediens et progrediens;

Description : The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991).;

Inheritance : Autosomal dominant; Autosomal recessive (rare);

Molecular basis : Caused by mutation in the beta-3 gap junction protein gene (GJB3, 603324.0001);

Prefixed ID : #133200;

Details

Origin ID

133200;

UMLS CUI

C4551486;

Automatic exact mappings (from CISMeF team)
- Transgrediens et progrediens palmoplantar keratoderma [ORDO Disease]
- erythrokeratodermia variabilis et progressiva 1 [DO Concept]
- greither disease [MeSH concept]
Currated CISMeF NLP mapping
- Erythrokeratoderma variabilis et progressiva [ICD-11 More detail]
- Erythrokeratoderma variabilis progressiva [ORDO Disease]
- Erythrokeratodermia Variabilis [NCIt concept]
- Erythrokeratodermia variabilis [MedDRA Preferred Term]
- Erythrokeratodermia variabilis [ORDO Disease]
- Erythrokeratodermia variabilis (disorder) [SNOMED CT concept]
- erythrokeratodermia variabilis [MeSH Descriptor]
- erythrokeratodermia variabilis [MeSH concept]
- erythrokeratodermia variabilis [Disease (Nov.)]
- erythrokeratodermia variabilis [DO Concept]
- erythrokeratodermia variabilis [SNOMED Notion]
DO Cross reference
- erythrokeratodermia variabilis et progressiva 1 [DO Concept]
False automatic mappings
- Progressive symmetric erythrokeratodermia [ORDO Disease]
- keratoderma palmoplantaris transgrediens [MeSH concept]
- keratoderma palmoplantaris transgrediens [MeSH Supplementary Concept]
Genes related to phenotype
- Gap junction protein, beta-3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Epidermal acanthosis [HPO term]
- Erythroderma [HPO term]
- Generalized hyperkeratosis [HPO term]
- Hypergranulosis [HPO term]
- Infantile onset [HPO term]
- Patchy palmoplantar hyperkeratosis [HPO term]
ORDO concept(s)
- Erythrokeratodermia variabilis [ORDO Disease]
- Progressive symmetric erythrokeratodermia [ORDO Disease]
- Transgrediens et progrediens palmoplantar keratoderma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erythrokeratoderma variabilis progressiva [ORDO Disease]
- Erythrokeratodermia Variabilis [NCIt concept]
- Erythrokeratodermia variabilis [MedDRA Preferred Term]
- Erythrokeratodermia variabilis [ORDO Disease]
- Erythrokeratodermia variabilis (disorder) [SNOMED CT concept]
- Progressive symmetric erythrokeratodermia [ORDO Disease]
- erythrokeratodermia variabilis [SNOMED Notion]
- erythrokeratodermia variabilis [MeSH Descriptor]
- erythrokeratodermia variabilis [MeSH concept]
- erythrokeratodermia variabilis [DO Concept]
- erythrokeratodermia variabilis [Disease (Nov.)]

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