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Lethal arteriopathy syndrome due to FBLN4 deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Isolated ectopia lentis

3 OMIM references -
2 associated genes
11 signs/symptoms

Lethal arteriopathy syndrome due to FBLN4 deficiency

Isolated ectopia lentis

EFEMP2	(UniProt - OMIM)		ADAMTSL4	(UniProt - OMIM)
			FBN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EFEMP2	(0.76)	FBN1

Citations in the biomedical literature:

Lethal arteriopathy syndrome due to FBLN4 deficiency		Isolated ectopia lentis
	Synonym(s): (no synonyms)		Synonym(s): - Ectopia lentis syndrome - Familial ectopia lentis

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): (no data available)		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 recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 3 OMIM references - 2 MeSH references: C536184 / D004479

Isolated ectopia lentis
	Very frequent - Autosomal dominant inheritance - Lens dislocation / luxation / subluxation / ectopia lentis - Restricted joint mobility / joint stiffness / ankylosis Frequent - Depressed premaxillary region / midface - Intellectual deficit / mental / psychomotor retardation / learning disability - Prognathism / prognathia Occasional - Cataract / lens opacification - Chronic arterial hypertension - Nystagmus - Pupillary anomalies / mydriasis / myosis / tonic pupil - Visual loss / blindness / amblyopia
Lethal arteriopathy syndrome due to FBLN4 deficiency
(no data available)