ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Naxos disease

Epidermolysis bullosa simplex with muscular dystrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.49)	PLEC

Citations in the biomedical literature:

Naxos disease		Epidermolysis bullosa simplex with muscular dystrophy
	Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy		Synonym(s): - EBS-MD - Limb girdle dystrophy with epidermolysis bullosa simplex

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Autosomal recessive inheritance

Naxos disease		Epidermolysis bullosa simplex with muscular dystrophy
	Very frequent - Abnormal hair texture / hair dysplasia - 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		Very frequent - Alopecia - Muscle weakness / flaccidity - Myopathy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thin / hypoplastic / hyperconvex fingernails - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Enamel anomaly - Follicular / erythematous / edematous papules / milium - Ptosis - Skin hypoplasia / aplasia / atrophy Occasional - Asthenia / fatigue / weakness - Myasthenia