Get in touch with RARE Concierge.

Contact RARE Concierge


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: // Data version September 2023.

Newly diagnosed with

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.