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TMEM165-CDG
Disease 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).
ORPHA:314667
Classification level: Disorder- Synonym(s):
- CDG syndrome type IIk
- CDG-IIk
- CDG2K
- Carbohydrate deficient glycoprotein syndrome type IIk
- Congenital disorder of glycosylation type 2k
- Congenital disorder of glycosylation type IIk
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E77.8
- OMIM: 614727
- UMLS: C3553571
- MeSH: -
- GARD: 12413
- MedDRA: -
A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016)
Detailed information
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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