MPI-CDG

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Synonyms: CDG syndrome type Ib | CDG-Ib | CDG1B | Carbohydrate deficient glycoprotein syndrome type Ib | Congenital disorder of glycosylation type 1b | Congenital disorder of glycosylation type Ib | Phosphomannose isomerase deficiency

MPI-CDG is a form of congenital disorders of N-linked glycosylation characterized by cyclic vomiting profound hypoglycemia failure to thrive liver fibrosis gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia life-threatening intestinal bleeding of diffuse origin) and thrombotic events (protein C and S deficiency low anti-thrombine III levels) whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

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 July 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.

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.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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