/TMEM165-congenital disorder of glycosylation

TMEM165-congenital disorder of glycosylation

Rare Disease

MONDO:0013870

Also Known As

CDG syndrome type IIkCDG-IIkCDG2KTMEM165-CDGTMEM165-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type IIkcongenital disorder of glycosylation type 2kcongenital disorder of glycosylation type IIkCDG IIkTMEM165-CDG (CDG-IIk)congenital disorder of glycosylation, type IIk

Definition

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).