ODCs

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2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
4 signs/symptoms

Autosomal dominant cutis laxa

Glaucoma - ectopia - microspherophakia - stiff joints - short stature

ELN	(UniProt - OMIM)		FBN1	(UniProt - OMIM)
FBLN5	(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		Glaucoma - ectopia - microspherophakia - stiff joints - short stature
	Synonym(s): - ADCL		Synonym(s): - Gemss syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Autosomal dominant cutis laxa		Glaucoma - ectopia - microspherophakia - stiff joints - short stature
	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 - Glaucoma - Lens dislocation / luxation / subluxation / ectopia lentis - Short stature / dwarfism / nanism