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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease
  • 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))