ODCs

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2 OMIM references -
2 associated genes
32 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 8

2 OMIM references -
2 associated genes
14 signs/symptoms

Autosomal recessive cutis laxa type 1

Autosomal dominant cutis laxa

EFEMP2	(UniProt - OMIM)		ELN	(UniProt - OMIM)
FBLN5	(UniProt - OMIM)		FBLN5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EFEMP2 EFEMP2 FBLN5	(0.76) (0.76) (0.76)	ELN FBLN5 ELN

Citations in the biomedical literature:

Autosomal recessive cutis laxa type 1		Autosomal dominant cutis laxa
	Synonym(s): - ARCL1 - Autosomal recessive cutis laxa with severe systemic involvement - Autosomal recessive cutis laxa, pulmonary emphysema type		Synonym(s): - ADCL

	Classification (Orphanet): - Rare abdominal surgical disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic 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: child / adolescent Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Broad cheeks / cherub-like / cherubin face - Colonic / intestinal / bowel diverticulosis / diverticulitis - Emphysema - Herniae - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Loose skin / skin relaxation / excess skin / creases - Premature ageing

Autosomal recessive cutis laxa type 1		Autosomal dominant cutis laxa
	Very frequent - Atelectasia / pulmonary collapse - Autosomal recessive inheritance - Bladder / vesical diverticulum - Diaphragmatic hernia / defect / agenesis - Recurrent urinary infections - Structural anomalies of the cardio-circulatory system Frequent - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial stenosis / occlusion - Intestinal obstruction / ileus - Large fontanelle / delayed fontanelle closure - Ptosis Occasional - Cardiac rhythm disorder / arrhythmia - Early death / lethality - Heart / cardiac failure - Hypothyroidy - Long hand / arachnodactyly - Motor deficit / trouble - Mutiple fractures / bone fragility - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Vesicorenal / vesicoureteral reflux - Wormian bones		Very frequent - Autosomal dominant inheritance Frequent - Abnormal fat distribution / lipodystrophy - Hypertelorism Occasional - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Pulmonary valve atresia / stenosis / narrowing