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Synonyms: CDG syndrome type Ik | CDG-Ik | CDG1K | Carbohydrate deficient glycoprotein syndrome type Ik | Congenital disorder of glycosylation type 1k | Congenital disorder of glycosylation type Ik | Mannosyltransferase 1 deficiency

A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay muscular hypotonia intractable early-onset seizures and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses nephrotic syndrome ascites hepatomegaly cardiomyopathy ocular manifestations (strabismus nystagmus) and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

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: // Data version September 2023.

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Advocacy Organizations

Portuguese Association for CDG

The APCDG aims to holistically support families affected by a CDG. Our mission based on the pillars of disease awareness, education, research and to subsequently, speed up the development of therapies that will significantly benefit patients and their family members. We believe that only by adopting a patient-centric approach we will find ways to improve their quality of life.


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.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.