ODCs

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5 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Congenital muscular dystrophy with intellectual disability

Naxos disease


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GMPPB	(0.63)	JUP

Citations in the biomedical literature:

Congenital muscular dystrophy with intellectual disability		Naxos disease
	Synonym(s): - CMD with intellectual disability - CMD-MR		Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538346

Naxos disease
	Very frequent - Abnormal hair texture / hair dysplasia - Autosomal recessive inheritance - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Dizziness - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Frequent - Brittle hair / distrix / trichorrhexis - Cleft lip - Heart / cardiac failure - Hyperhidrosis / increased sweating - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
Congenital muscular dystrophy with intellectual disability
(no data available)