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GENATLAS PHENOTYPE

last update : 07-12-2022

Symbol	VGTAO
Location	2p23.3
Name	vasculopathy with generalized tortuosity, aneurysm and osteopenia
Corresponding gene	EMILIN1
Main clinical features	severe vasculopathy characterized by generalized tortuosity and aneurysm formation, with osteopenia propensity for arterial dissections and hypomineralization of the skeleton should be classified as a form of congenital cutis laxa
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	cardiovascular
	osteo-articular
Type	disease

Remark(s)

. bi-allelic loss-of-function variants in EMILIN1, and EMILIN1 serves likely a dual function in elastic fiber and collagen fiber formation (PMID: 36351433))