TMEM165-congenital disorder of glycosylation
TMEM165-congenital disorder of glycosylation
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).
Also known as carbohydrate deficient glycoprotein syndrome type IIk, CDG syndrome type IIk, CDG-IIk, CDG2K, congenital disorder of glycosylation type 2k, congenital disorder of glycosylation type IIk, TMEM165-CDG, TMEM165-congenital disorder of glycosylation — per MONDO