ODCs

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2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 2

2 OMIM references -
1 associated gene
24 signs/symptoms

Autosomal dominant cutis laxa

Stiff skin syndrome

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		Stiff skin syndrome
	Synonym(s): - ADCL		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: (no data available)

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


COMMON SIGNS	- Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance

Autosomal dominant cutis laxa		Stiff skin syndrome
	Very frequent - Loose skin / skin relaxation / excess skin / creases Frequent - 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 - Dermal / subcutaneous infiltration / induration - Restricted joint mobility / joint stiffness / ankylosis - Thick skin / pachydermia / orange skin - Tight skin / lack of elasticity Occasional - Chronic arterial hypertension - Glaucoma - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insensitivity to pain - Insulin-independent / type 2 diabetes - Lipoatrophy - Mid-facial hypoplasia / short / small midface - Muscle anomalies - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Peripheral neuropathy - Retinal detachment - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Skin hypoplasia / aplasia / atrophy - Strabismus / squint - Subcutaneous nodules / lipomas / tumefaction / swelling - Urinary / renal lithiasis / kidney stones / nephritic colic