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Autosomal recessive cutis laxa type 1

2 OMIM references -
2 associated genes
32 signs/symptoms

PROTEIN INTERACTIONS: 2

Gray platelet syndrome

2 OMIM references -
2 associated genes
10 signs/symptoms

Autosomal recessive cutis laxa type 1

Gray platelet syndrome

EFEMP2	(UniProt - OMIM)		GFI1B	(UniProt - OMIM)
FBLN5	(UniProt - OMIM)		NBEAL2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EFEMP2 FBLN5	(0.63) (0.63)	GFI1B GFI1B

Citations in the biomedical literature:

Autosomal recessive cutis laxa type 1		Gray platelet syndrome
	Synonym(s): - ARCL1 - Autosomal recessive cutis laxa with severe systemic involvement - Autosomal recessive cutis laxa, pulmonary emphysema type		Synonym(s): - Alpha storage pool deficiency - GPS - Platelet alpha-granule deficiency

	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 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: child / adolescent Type of inheritance: autosomal recessive		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 recessive cutis laxa type 1		Gray platelet syndrome
	Very frequent - Atelectasia / pulmonary collapse - Autosomal recessive inheritance - Bladder / vesical diverticulum - Diaphragmatic hernia / defect / agenesis - Emphysema - Loose skin / skin relaxation / excess skin / creases - Premature ageing - Recurrent urinary infections - Structural anomalies of the cardio-circulatory system Frequent - Aortic root dilatation / dilation / aneurysm - Arterial aneurism (excluding aorta) - Arterial stenosis / occlusion - Broad cheeks / cherub-like / cherubin face - Herniae - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Intestinal obstruction / ileus - Large fontanelle / delayed fontanelle closure - Ptosis Occasional - Cardiac rhythm disorder / arrhythmia - Colonic / intestinal / bowel diverticulosis / diverticulitis - 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 - 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