Hyperinsulinism
Gene: MPIEnsemblGeneIds (GRCh38): ENSG00000178802
EnsemblGeneIds (GRCh37): ENSG00000178802
OMIM: 154550, Gene2Phenotype
MPI is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated.
Well established gene-disease association, numerous families reported.Created: 20 Dec 2020, 6:07 a.m. | Last Modified: 20 Dec 2020, 6:07 a.m.
Panel Version: 0.5721
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257
Publications
Michelle de Silva (Victorian Clinical Genetics Services)
There seems to be only one reported case of an infant with hyperinsulinaemic hypoglycaemia where there is molecular association with the MPI gene (PMID: 29531722).
Variants in MPI are shown to cause MPI-CDG (CDG-Ib; PMID: 0980531) and hypoglycaemia is a feature of MPI-CDG.
Sources: Expert ReviewCreated: 14 Feb 2020, 4:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ib, MIM# 602579
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Congenital disorder of glycosylation, type Ib, MIM# 602579
- OMIM
- 154550
- Clinvar variants
- Variants in MPI
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Hyperinsulinism
- Prepair 1000+
- Cholestasis
- Liver Failure_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Congenital Diarrhoea
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MPI were set to PMID: 29531722; 0980531
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpi has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpi has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpi has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Michelle de Silva (Victorian Clinical Genetics Services)gene: MPI was added gene: MPI was added to Hyperinsulinism. Sources: Expert Review Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to PMID: 29531722; 0980531 Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579 Review for gene: MPI was set to AMBER