ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

Premature chromosome condensation with microcephaly and intellectual deficit

Dubin-Johnson syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MCPH1	(0.63)	ABCC2

Citations in the biomedical literature:

Premature chromosome condensation with microcephaly and intellectual deficit		Dubin-Johnson syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Dubin-Sprinz disease - Hyperbilirubinemia type 2 - Sprinz-Nelson syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D007566


COMMON SIGNS	- Autosomal recessive inheritance

Premature chromosome condensation with microcephaly and intellectual deficit		Dubin-Johnson syndrome
	Very frequent - Chromosomal or genetic anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Short stature / dwarfism / nanism - Sloping forehead - Thin / retracted lips Frequent - Agenesis / hypoplasia / aplasia of kidneys - Corpus callosum / septum pellucidum total / partial agenesis - Cortical anomaly / thick bone cortical layer - Dilated cerebral ventricles without hydrocephaly - Hypereflexia - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter		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)