TMEM165-CDG

Orpha code: 314667OMIM code: 614727

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 <i>TMEM165</i> (4q12).

Disease data
Classification

Disease

Synonyms
CDG syndrome type IIk
CDG2K
CDG-IIk
Zespół CDG typu IIk
Wrodzone zaburzenie glikozylacji typu 2k
Wrodzone zaburzenie glikozylacji typu IIk
Zespół obniżonej glikozylacji glikoprotein typu IIk
CDG-IIk
CDG2K
Carbohydrate deficient glycoprotein syndrome type IIk
Congenital disorder of glycosylation type 2k
Congenital disorder of glycosylation type IIk
ORPHA code
314667
OMIM code
614727
ICD10 code
E77.8
ICD11 code
-

No additional description.

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