Naxos disease - CISMeF

Preferred Label : Naxos disease;

Symbol : NXD;

CISMeF acronym : NXD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Woolly hair, palmoplantar keratoderma, and cardiac abnormalities; Cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities; Mal de naxos; Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair; Keratosis palmoplantaris with arrhythmogenic cardiomyopathy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the plakoglobin gene (JUP, 173325.0001);

Prefixed ID : #601214;

Détails

Origin ID

601214;

UMLS CUI

C1832600;

Automatic exact mappings (from CISMeF team)
- Naxos disease [ICD-11 More detail]
- Naxos disease [DO Concept]
Currated CISMeF NLP mapping
- Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) [SNOMED CT concept]
- Naxos disease [Disease (Nov.)]
- Naxos disease [MeSH concept]
- Naxos disease [ORDO Disease]
- naxos disease [MeSH Supplementary Concept]
DO Cross reference
- Naxos disease [DO Concept]
Genes related to phenotype
- Junction plakoglobin [OMIM gene]
HPO term(s)
- Abnormal morphology of right ventricular trabeculae [HPO term]
- Acantholysis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Congestive heart failure [HPO term]
- Curly hair [HPO term]
- Dilated cardiomyopathy [HPO term]
- Epidermal acanthosis [HPO term]
- Fragile skin [HPO term]
- Nail dystrophy [HPO term]
- Onycholysis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Palpitations [HPO term]
- Paroxysmal ventricular tachycardia [HPO term]
- Premature ventricular contraction [HPO term]
- Prolonged QRS complex [HPO term]
- Right bundle branch block [HPO term]
- Right ventricular cardiomyopathy [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse body hair [HPO term]
- Sudden cardiac death [HPO term]
- Sudden death [HPO term]
- Syncope [HPO term]
- T-wave inversion [HPO term]
- Ventricular arrhythmia [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Naxos disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) [SNOMED CT concept]
- Naxos disease [ORDO Disease]
- Naxos disease [MeSH concept]
- Naxos disease [Disease (Nov.)]
- naxos disease [MeSH Supplementary Concept]

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