ODCs

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2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

3 OMIM references -
2 associated genes
11 signs/symptoms

Autosomal dominant cutis laxa

Isolated ectopia lentis

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ELN FBLN5	(0.89) (0.63)	FBN1 FBN1

Citations in the biomedical literature:

Autosomal dominant cutis laxa		Isolated ectopia lentis
	Synonym(s): - ADCL		Synonym(s): - Ectopia lentis syndrome - Familial ectopia lentis

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal 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: 2 OMIM references - No MeSH references		External references: 3 OMIM references - 2 MeSH references: C536184 / D004479


COMMON SIGNS	- Autosomal dominant inheritance

Autosomal dominant cutis laxa		Isolated ectopia lentis
	Very frequent - Loose skin / skin relaxation / excess skin / creases Frequent - Abnormal fat distribution / lipodystrophy - Broad cheeks / cherub-like / cherubin face - Colonic / intestinal / bowel diverticulosis / diverticulitis - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Premature ageing Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Emphysema - Herniae - Inguinal / inguinoscrotal / crural hernia - Pulmonary valve atresia / stenosis / narrowing		Very frequent - 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