TMEM165-CDG

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TMEM165-CDG

Synonyms: 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

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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Advocacy Organizations

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Clinical Trials

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