ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

3 OMIM references -
2 associated genes
11 signs/symptoms

Hereditary sensorimotor neuropathy with hyperelastic skin

Isolated ectopia lentis

FBLN5	(UniProt - OMIM)		ADAMTSL4	(UniProt - OMIM)
			FBN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBLN5	(0.63)	FBN1

Citations in the biomedical literature:

Hereditary sensorimotor neuropathy with hyperelastic skin		Isolated ectopia lentis
	Synonym(s): (no synonyms)		Synonym(s): - Ectopia lentis syndrome - Familial ectopia lentis

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant		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
Hereditary sensorimotor neuropathy with hyperelastic skin
(no data available)