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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
16 signs/symptoms

Naxos disease

EEM syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.74)	CDH3

Citations in the biomedical literature:

Naxos disease		EEM syndrome
	Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy		Synonym(s): - Ectodermal dysplasia - ectrodactyly - macular dystrophy

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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 - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Naxos disease		EEM syndrome
	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 Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest		Very frequent - Decreased body hair / axillar / pubic hairlessness - Macular dystrophy / absence / hypoplasia of the macula - Oligodactyly / ectrodactyly of fingers - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Tooth shape anomaly Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent / decreased / thin eyebrows - Anodontia / oligodontia / hypodontia - Anomalies of eyes and vision - Complete / partial microdontia - Multiple caries - Syndactyly of fingers / interdigital palm Occasional - Strabismus / squint