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Autosomal dominant cutis laxa

2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

Gray platelet syndrome

2 OMIM references -
2 associated genes
10 signs/symptoms

Autosomal dominant cutis laxa

Gray platelet syndrome

ELN	(UniProt - OMIM)		GFI1B	(UniProt - OMIM)
FBLN5	(UniProt - OMIM)		NBEAL2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBLN5	(0.63)	GFI1B

Citations in the biomedical literature:

Autosomal dominant cutis laxa		Gray platelet syndrome
	Synonym(s): - ADCL		Synonym(s): - Alpha storage pool deficiency - GPS - Platelet alpha-granule deficiency

	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 hematologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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: childhood Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D055652

Autosomal dominant cutis laxa		Gray platelet syndrome
	Very frequent - Autosomal dominant inheritance - 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 - Bruisability - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Platelet disorders / thrombopathies - Thrombocytopenia / thrombopenia Frequent - Bladder / vesical lesions / glomerulations / petechiae - Epistaxis / nose bleeding - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Myelodysplastic syndrome - Splenomegaly Occasional - Early death in adulthood