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Lethal arteriopathy syndrome due to FBLN4 deficiency

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Gray platelet syndrome

2 OMIM references -
2 associated genes
10 signs/symptoms

Lethal arteriopathy syndrome due to FBLN4 deficiency

Gray platelet syndrome

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


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

Citations in the biomedical literature:

Lethal arteriopathy syndrome due to FBLN4 deficiency		Gray platelet syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Alpha storage pool deficiency - GPS - Platelet alpha-granule deficiency

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): (no data available)		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: before age 5 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: No OMIM references No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D055652

Gray platelet syndrome
	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
Lethal arteriopathy syndrome due to FBLN4 deficiency
(no data available)