ODCs

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1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

3 OMIM references -
2 associated genes
11 signs/symptoms

Congenital contractural arachnodactyly

Isolated ectopia lentis

FBN2	(UniProt - OMIM)		ADAMTSL4	(UniProt - OMIM)
			FBN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN2	(0.62)	FBN1

Citations in the biomedical literature:

Congenital contractural arachnodactyly		Isolated ectopia lentis
	Synonym(s): - Beals syndrome - Beals-Hecht syndrome - CCA syndrome - Distal arthrogryposis type 9		Synonym(s): - Ectopia lentis syndrome - Familial ectopia lentis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare systemic or rheumatologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy 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: 1 OMIM reference - 1 MeSH reference: C536211		External references: 3 OMIM references - 2 MeSH references: C536184 / D004479


COMMON SIGNS	- Autosomal dominant inheritance - Lens dislocation / luxation / subluxation / ectopia lentis - Restricted joint mobility / joint stiffness / ankylosis

Congenital contractural arachnodactyly		Isolated ectopia lentis
	Very frequent - Arthrogryposis - Camptodactyly of fingers - Contractures / cramps / trismus / tetania / claudication / opisthotonos - External ear anomalies - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits - High vaulted / narrow palate - Kyphosis - Long hand / arachnodactyly - Long limbs / dolichostenomelia - Muscle anomalies - Scoliosis Frequent - Marfanoid morphotype Occasional - Aortic dilatation / dilation - Congenital cardiac anomaly / malformation / cardiopathy - Duodenal atresia / stenosis / megaduodenum - Intestinal / gut / bowel malrotation - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis		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