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GENATLAS PHENOTYPE

last update : 08-03-2017

Symbol	CDG2S
Location	22q11.21
Name	congenital disorder of glycosylation, type 2S
Corresponding gene	ATP6V1E1
Other symbol(s)	ARCL4B
Main clinical features	generalized cutis laxa, generalized skin wrinkling, marfanoid habitus, facial dysmorphism, with “mask-like” triangular face, a short forehead, hypertelorism, entropion, low-set ears with misfolded helices, a beaked nose with a broad nasal base and narrow nostrils, and a short and pointed chin, hypotonia, cardiac abnormalities risk of potentially life-threatening cardiopulmonary complications, such as pneumothorax, aortic root dilatation, cardiomyopathy, and congenital heart defects
Genetic determination	autosomal recessive
Function/system disorder	connective tissue
	dermatology
	cardiovascular
	metabolism/carbohydrates
Type	disease

Remark(s)

mutations affect V-ATPase structure and assembly, protein glycosylation, Golgi trafficking, and lysosomal function and lead to defects in ECM homeostasis and architecture (PMID: 28065471))