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Primary sclerosing cholangitis

2 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
14 signs/symptoms

Primary sclerosing cholangitis

Naxos disease

GPR35	(UniProt - OMIM)		JUP	(UniProt - OMIM)
MST1	(UniProt - OMIM)
TCF4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TCF4	(0.55)	JUP

Citations in the biomedical literature:

Primary sclerosing cholangitis		Naxos disease
	Synonym(s): - PSC		Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy

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

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

	Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: adulthood Average age of death: - Type of inheritance: multigenic/multifactorial		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: 2 OMIM references - 1 MeSH reference: C536419		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
Primary sclerosing cholangitis
(no data available)