ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Dubin-Johnson syndrome

1 OMIM reference -
1 associated gene
10 signs/symptoms

Naxos disease

Dubin-Johnson syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	JUP	(0.49)	ABCC2

Citations in the biomedical literature:

Naxos disease		Dubin-Johnson syndrome
	Synonym(s): - Keratosis palmoplantaris with arrythmogenic cardiomyopathy - Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy - Palmoplantar keratoderma with arrythmogenic cardiomyopathy		Synonym(s): - Dubin-Sprinz disease - Hyperbilirubinemia type 2 - Sprinz-Nelson syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538346		External references: 1 OMIM reference - 1 MeSH reference: D007566


COMMON SIGNS	- Autosomal recessive inheritance

Naxos disease		Dubin-Johnson 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 - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Acanthosis nigricans - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest		Very frequent - Abnormal colour of the urine / cholic / dark urines - Hepatitis / icterus / cholestasis - Structural anomalies of the liver and the biliary tract Frequent - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis Occasional - Acute abdominal pain / colic - Asthenia / fatigue / weakness - Clotting / hemostasis disorders - Fever / chilling - Hepatomegaly / liver enlargement (excluding storage disease)