ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
16 signs/symptoms

Naxos disease

Hypotrichosis with juvenile macular degeneration


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

Citations in the biomedical literature:

Naxos disease		Hypotrichosis with juvenile macular degeneration
	Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy		Synonym(s): - HJMD - Hypotrichosis with juvenile macular dystrophy

	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 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: normal 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 - Brittle hair / distrix / trichorrhexis - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Naxos disease		Hypotrichosis with juvenile macular degeneration
	Very frequent - Abnormal hair texture / hair dysplasia - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Dizziness - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Frequent - Cleft lip - Heart / cardiac failure - Hyperhidrosis / increased sweating Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest		Very frequent - Macular dystrophy / absence / hypoplasia of the macula - Macular pigmentary anomaly / cherry-red spot - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia Frequent - Fine hair - Pili torti Occasional - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Excessive freckling - Global upper and lower limbs anomalies - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nystagmus - Pigmented naevi / naevus pigmentosus / lentigo - Severe allergic reaction / atopy