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Hypotrichosis simplex

7 OMIM references -
6 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
14 signs/symptoms

Hypotrichosis simplex

Naxos disease

APCDD1	(UniProt - OMIM)		JUP	(UniProt - OMIM)
DSG4	(UniProt - OMIM)
LIPH	(UniProt - OMIM)
LPAR6	(UniProt - OMIM)
RPL21	(UniProt - OMIM)
SNRPE	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPL21	(0.49)	JUP

Citations in the biomedical literature:

Hypotrichosis simplex		Naxos disease
	Synonym(s): - Hereditary hypotrichosis simplex		Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		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: 7 OMIM references - 1 MeSH reference: C537160		External references: 1 OMIM reference - 1 MeSH reference: C538346


COMMON SIGNS	- Autosomal recessive inheritance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Woolly / frizzy hair

Hypotrichosis simplex		Naxos disease
	Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Alopecia - Autosomal dominant inheritance - Decreased body hair / axillar / pubic hairlessness Frequent - Lanugo Occasional - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Pruritus / itching		Very frequent - Abnormal hair texture / hair dysplasia - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Dizziness - Palmoplantar hyperkeratosis / keratoderma Frequent - Brittle hair / distrix / trichorrhexis - Cleft lip - Heart / cardiac failure - Hyperhidrosis / increased sweating Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest