MPI gene related symptoms and diseases

All the information presented here about the MPI gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MPI gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Protein-losing enteropathy Very Common - Between 80% and 100% cases
Hypoalbuminemia Very Common - Between 80% and 100% cases
Abnormality of the coagulation cascade Very Common - Between 80% and 100% cases
Hyperinsulinemic hypoglycemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MPI gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypoproteinemia
  • Villous atrophy
  • Generalized edema
  • Congenital hepatic fibrosis
  • Abnormal thrombosis
  • Hepatic fibrosis
  • Enterocolitis
  • Type I transferrin isoform profile

And 27 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MPI gene

Here you will find a list of rare diseases related to the MPI. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MPI-CDG


Alternate names

MPI-CDG Is also known as cdg-ib, cdg, gastrointestinal type, congenital disorder of glycosylation type ib, carbohydrate deficient glycoprotein syndrome type ib, saguenay-lac saint-jean syndrome, mpi deficiency, slsj syndrome, phosphomannose isomerase deficiency, cdg ib, cdgib, protein-losi

Description

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).

Most common symptoms of MPI-CDG

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


More info about MPI-CDG

SOURCES: MESH ORPHANET OMIM


Potential gene panels for MPI gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

MPI Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MPI gene.

More info about this panel

MPI Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MPI gene.

More info about this panel

MPI Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MPI gene.

More info about this panel

MPI Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MPI gene.

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

United States.

By Baylor Miraca Genetics Laboratories Congenital Disorders of Glycosylation Panel that also includes the following genes: SLC35A1 ALG9 ALG1 ATP6V0A2 COG7 COG8 ALG12 SLC35C1 ALG3 ALG6

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Congenital Disorders of Glycosylation, type 1b Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the MPI gene.

More info about this panel

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

Congenital Disorders of Glycosylation Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Disorders of Glycosylation that also includes the following genes: SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12

More info about this panel

Lymphedema NGS Multi-Gene Panel (36 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1

More info about this panel

MPI. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MPI gene.

More info about this panel

Congenital disorder of glycosylation type Ib (sequence analysis of MPI gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MPI gene.

More info about this panel

Congenital disorders of glycosylation (NGS panel for 39 genes) Panel

Portugal.

By CGC Genetics Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 COG4 COG6 COG7

More info about this panel

Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Ia, Ib, and Ic) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Ia, Ib, and Ic) with CNV Detection that also includes the following genes: ALG6 MPI PMM2

More info about this panel

Congenital Disorders of Glycosylation, Type Ib (CDG Ib) via MPI Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MPI gene.

More info about this panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel

Germany.

By MGZ Medical Genetics Center Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8

More info about this panel

Congenital Disorders of Glycosylation Sequential Panel 1 Panel

United States.

By FirmaLab Congenital Disorders of Glycosylation Sequential Panel 1 that also includes the following genes: ALG6 SRD5A3 MPI PMM2

More info about this panel

Congenital disorder of glycosylation, type Ib (MPI) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the MPI gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Glycosylation disorder type 1B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MPI gene.

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Germany.

By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

Germany.

By CeGaT GmbH Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SLC35A1 SLC35A2 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8 ALG12

More info about this panel

Single gene testing MPI Panel

Germany.

By CeGaT GmbH

This panel specifically test the MPI gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

Invitae Congenital Disorders of Glycosylation Panel Panel

United States.

By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2

More info about this panel

Congenital disorder of multiple glycosylation (CDG) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of multiple glycosylation (CDG) that also includes the following genes: SEC23B SLC35A1 COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12

More info about this panel

Congenital disorder of N-linked glycosylation (CDG) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Congenital disorder of N-linked glycosylation (CDG) that also includes the following genes: ALG9 ALG1 ALG12 ALG3 ALG6 ALG2 ALG8 MOGS DDOST DPAGT1

More info about this panel

Congenital Disorder of Glycosylation Ib: MPI Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MPI gene.

More info about this panel

Congenital Disorder of Glycosylation Ib: MPI Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MPI gene.

More info about this panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: RPN2 SEC23B ST3GAL3 ST3GAL5 SLC35A1 COG5 ALG9 CHSY1 NGLY1 FKRP

More info about this panel

Congenital Disorders of Glycosylation NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Congenital Disorders of Glycosylation NGS Panel that also includes the following genes: RPN2 SEC23B SLC35A1 COG5 ALG9 ALG1 ATP6V0A2 COG4 COG6 COG7

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

MPI Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MPI gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

Finland.

By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Metabolic Liver Failure Panel Panel

Finland.

By Blueprint Genetics Metabolic Liver Failure Panel that also includes the following genes: SMPD1 NPC2 FAH GALE GALK1 GALT ALDOB LIPA MPI NPC1

More info about this panel

Congenital disorder of glycosylation type Ib Panel

Spain.

By Bioarray

This panel specifically test the MPI gene.

More info about this panel

CONGENITAL DISORDERS OF GLYCOSYLATION Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL DISORDERS OF GLYCOSYLATION that also includes the following genes: ALG3 ALG6 MPI PGM1 PMM2

More info about this panel

Congenital Disorder of Glycosylation Type IB , Sequencing MPI Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MPI gene.

More info about this panel

Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SEC23B COG5 ALG9 ATP6V0A2 COG4 COG6 COG7 COG8 ALG12 SLC35C1

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POMP NDUFA4 DDRGK1 CSGALNACT1 SNX27 RBM28

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more