MPI-congenital disorder of glycosylation
Findings
No curated finding names MPI-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0011257), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Obligate (100% of cases)
- CirrhosisHPOHP:0001394
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Hepatic fibrosisHPOHP:0001395
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MPIHGNC:7216
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: MPI-congenital disorder of glycosylation
- Also called
- carbohydrate deficient glycoprotein syndrome type IBCDG syndrome type IBCDG-IbCDG1Bcongenital disorder of glycosylation type 1bcongenital disorder of glycosylation type IBMPI-CDGphosphomannose isomerase deficiency