Cardiomyopathy, dilated, with woolly hair and keratoderma

Preferred Label : Cardiomyopathy, dilated, with woolly hair and keratoderma;

Symbol : DCWHK;

CISMeF acronym : DCWHK;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Carvajal syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the desmoplakin gene (DSP, 125647.0002);

Prefixed ID : #605676;

Détails

Origin ID

605676;

UMLS CUI

C1854063;

Automatic exact mappings (from CISMeF team)
- Woolly hair – palmoplantar keratoderma – dilated cardiomyopathy [ICD-11 More detail]
Currated CISMeF NLP mapping
- Cardiomyopathy dilated with Woolly hair and keratoderma [MeSH concept]
- Carvajal syndrome [PASCAL descriptor]
- Carvajal syndrome [DO Concept]
- Carvajal syndrome [Disease (Nov.)]
- Carvajal syndrome [ORDO Disease]
- Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder) [SNOMED CT concept]
- cardiomyopathy dilated with woolly hair and keratoderma [MeSH Supplementary Concept]
DO Cross reference
- Carvajal syndrome [DO Concept]
Genes related to phenotype
- Desmoplakin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomyocyte hypertrophy [HPO term]
- Clubbing of fingers [HPO term]
- Congestive heart failure [HPO term]
- Death in adolescence [HPO term]
- Death in early adulthood [HPO term]
- Dilated cardiomyopathy [HPO term]
- Edema [HPO term]
- Palmoplantar keratoderma [HPO term]
- Tooth agenesis [HPO term]
- Ventricular tachycardia [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Carvajal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy dilated with Woolly hair and keratoderma [MeSH concept]
- Carvajal syndrome [ORDO Disease]
- Carvajal syndrome [DO Concept]
- Carvajal syndrome [PASCAL descriptor]
- Carvajal syndrome [Disease (Nov.)]
- Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder) [SNOMED CT concept]
- cardiomyopathy dilated with woolly hair and keratoderma [MeSH Supplementary Concept]

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