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Atelosteogenesis type I

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Isolated polycystic liver disease

1 OMIM reference -
2 associated genes
14 signs/symptoms

Atelosteogenesis type I

Isolated polycystic liver disease

FLNB	(UniProt - OMIM)		PRKCSH	(UniProt - OMIM)
			SEC63	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	PRKCSH

Citations in the biomedical literature:

Atelosteogenesis type I		Isolated polycystic liver disease
	Synonym(s): - AO1 - AOI - Giant cell chondrodysplasia - Spondylo-humero-femoral dysplasia		Synonym(s): - ADPCLD - Autosomal dominant polycystic liver disease - PCLD

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare hepatic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535396		External references: 1 OMIM reference - 1 MeSH reference: C536330

Isolated polycystic liver disease
	Very frequent - Autosomal dominant inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Polycystic liver disease / hepatic cysts Frequent - Polycystic kidneys Occasional - Acute abdominal pain / colic - Arterial aneurism (excluding aorta) - Early death / lethality - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hepatitis / icterus / cholestasis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Structural anomalies of the pancreas - Structural anomalies of the respiratory system and diaphragm
Atelosteogenesis type I
(no data available)