Erythrokeratodermia variabilis et progressiva 6

Preferred Label : Erythrokeratodermia variabilis et progressiva 6;

Symbol : EKVP6;

CISMeF acronym : EKVP6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily M, member-4 gene (TRPM4, 606936.0007);

Prefixed ID : #618531;

Details

Origin ID

618531;

UMLS CUI

C5193144;

Currated CISMeF NLP mapping
- erythrokeratodermia variabilis et progressiva 6 [DO Concept]
DO Cross reference
- erythrokeratodermia variabilis et progressiva 6 [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily M, member 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Erythematous plaque [HPO term]
- Parakeratosis [HPO term]
- Pruritus [HPO term]
- Superficial dermal perivascular inflammatory infiltrate [HPO term]
Not associated HPO term(s)
- Arrhythmia [HPO term]
ORDO concept(s)
- Progressive symmetric erythrokeratodermia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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