TMEM165-congenital disorder of glycosylation
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).
MONDO:0019704
obsolete primary bone dysplasia with decreased bone density (obsolete MONDO:0019704)
excluded_subClassOf
MONDO:0005501
congenital disorder of glycosylation type II
is_a
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
CDG syndrome type IIk
exact
CDG-IIk
exact
CDG2K
exact
TMEM165-CDG
exact
TMEM165-CDG (CDG-IIk)
related
TMEM165-congenital disorder of glycosylation
exact
carbohydrate deficient glycoprotein syndrome type IIk
exact
congenital disorder of glycosylation type 2k
exact
congenital disorder of glycosylation type IIk
exact
congenital disorder of glycosylation, type IIk
related
SPAC186.05c SPAC17G8.08c