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Knobloch syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1

Biliary atresia

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

Knobloch syndrome

Biliary atresia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL18A1	(0.55)	GPC1

Citations in the biomedical literature:

Knobloch syndrome		Biliary atresia
	Synonym(s): - Knobloch-Layer syndrome - Retinal detachment - occipital encephalocele		Synonym(s): - Atresia of bile ducts - Non-syndromic biliary atresia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - 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: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - 1 MeSH reference: C537209		External references: 1 OMIM reference - 1 MeSH reference: D001656

Knobloch syndrome
	Very frequent - Autosomal recessive inheritance - Encephalocele / exencephaly - Macular dystrophy / absence / hypoplasia of the macula - Myopia - Retinal detachment - Scalp / skull defect Frequent - Hydrocephaly - Nystagmus - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation Occasional - Cataract / lens opacification - Depressed nasal bridge - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Epicanthic folds - Gastric / pyloric stenosis - Hair and scalp anomalies - Hyperextensible joints / articular hyperlaxity - Lens dislocation / luxation / subluxation / ectopia lentis - Lymphangioma / lymphatic malformations - Mid-facial hypoplasia / short / small midface - Patent ductus arteriosus - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter - Vesicorenal / vesicoureteral reflux
Biliary atresia
(no data available)