Congenital Disorder Of Glycosylation, Type Ib; Cdg1b

Description

Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006).For a discussion of the classification of CDGs, see CDG1A (OMIM ).CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhea with failure to thrive and protein-losing enteropathy with coagulopathy. Some patients 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 (Marquardt and Denecke, 2003). Thus, CDG Ib should be considered in the differential diagnosis of patients with unexplained hypoglycemia, chronic diarrhea, liver disease, or coagulopathy in order to allow early diagnosis and effective therapy (Vuillaumier-Barrot et al., 2002)Freeze and Aebi (1999) reviewed CDG Ib and CDG Ic (OMIM ). Marques-da-Silva et al. (2017) systematically reviewed the literature concerning liver involvement in CDG.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Disorder Of Glycosylation, Type Ib; Cdg1b

  • Intellectual disability
  • Generalized hypotonia
  • Pica
  • Failure to thrive
  • Muscular hypotonia
  • Anemia
  • Nevus
  • Hepatomegaly
  • Edema
  • Coma
And another 33 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Congenital Disorder Of Glycosylation, Type Ib; Cdg1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
MPI Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MPI
Specificity
100 %
Genes
100 %
MPI Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories in United States.

MPI
Specificity
100 %
Genes
100 %
MPI Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MPI
Specificity
100 %
Genes
100 %
MPI Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

MPI
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Baylor Miraca Genetics Laboratories in United States.

ATP6V0A2, SRD5A3, GNE, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation, type 1b.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

MPI
Specificity
100 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, AGL, ACADVL, ACAT1, YARS2, PC, GYS2, UQCRQ, ARG1, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ATP6V0A2, SRD5A3, GNE, DDOST, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RAF1, ALG8, MPI, PMM2, BRAF, GJC2, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MET, GATA2, RELN, HGF , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
MPI. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MPI
Specificity
100 %
Genes
100 %
Congenital disorder of glycosylation type Ib (sequence analysis of MPI gene).

By CGC Genetics in Portugal.

MPI
Specificity
100 %
Genes
100 %
Congenital disorders of glycosylation (NGS panel for 39 genes).

By CGC Genetics in Portugal.

SRD5A3, DDOST, DPM3, PGM1, RFT1, COG1, COG8, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Ia, Ib, and Ic) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALG6, MPI, PMM2
Specificity
34 %
Genes
100 %
Congenital Disorders of Glycosylation, Type Ib (CDG Ib) via the MPI Gene.

By PreventionGenetics PreventionGenetics in United States.

MPI
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG).

By MGZ Medical Genetics Center in Germany.

SRD5A3, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1, SLC35A1, ALG6, MPI , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Congenital Disorders of Glycosylation Sequential Panel 1.

By FirmaLab in United States.

SRD5A3, ALG6, MPI, PMM2
Specificity
25 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Glycosylation disorder type 1B.

By Centogene AG - the Rare Disease Company in Germany.

MPI
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG) Panel.

By CeGaT GmbH in Germany.

SRD5A3, DDOST, DPM3, PGM1, RFT1, COG1, COG8, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG) Panel.

By CeGaT GmbH in Germany.

SRD5A3, DDOST, DPM3, PGM1, RFT1, COG1, COG8, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Single gene testing MPI.

By CeGaT GmbH in Germany.

MPI
Specificity
100 %
Genes
100 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Invitae Congenital Disorders of Glycosylation Panel.

By Invitae in United States.

ATP6V0A2, SRD5A3, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, SLC35A1, ALG6, MPI , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Congenital disorder of multiple glycosylation (CDG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ATP6V0A2, SRD5A3, GNE, DHDDS, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Congenital disorder of N-linked glycosylation (CDG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DDOST, PGM1, RFT1, TUSC3, ALG9, ALG1, ALG8, ALG2, ALG12, ALG6, MPI, ALG3, MGAT2, PMM2, DPAGT1, MOGS, GFPT1, ALG13, ALG11, TMEM165 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Congenital Disorder of Glycosylation Ib: MPI Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MPI
Specificity
100 %
Genes
100 %
Congenital Disorder of Glycosylation Ib: MPI Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MPI
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Congenital Disorders of Glycosylation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
MPI.

By Fulgent Genetics Fulgent Genetics in United States.

MPI
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Blueprint Genetics in Finland.

ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Metabolic Liver Failure Panel.

By Blueprint Genetics in Finland.

ALDOB, ATP7B, SMPD1, PHKA2, FAH, PYGL, PHKG2, MPI, PHKB, GALT, GALE, GALK1, LIPA, NPC1, NPC2, SERPINA1
Specificity
7 %
Genes
100 %
Congenital disorder of glycosylation type Ib.

By Bioarray in Spain.

MPI
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
CONGENITAL DISORDERS OF GLYCOSYLATION.

By Laboratorio de Genetica Clinica SL in Spain.

PGM1, ALG6, MPI, ALG3, PMM2
Specificity
20 %
Genes
100 %
Congenital Disorder of Glycosylation Type IB , Sequencing MPI Gene.

By Reference Laboratory Genetics in Spain.

MPI
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

ATP6V0A2, SRD5A3, GNE, DHDDS, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG2, ALG12, B4GALT1, ALG6, MPI, ALG3 , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Congenital Disorder Of Glycosylation, Type Ib; Cdg1b Is also known as cdg ib;cdgib, cdg, gastrointestinal type, mannosephosphate isomerase deficiency, mpi deficiency, protein-losing enteropathy-hepatic fibrosis syndrome, saguenay-lac saint-jean syndrome, slsj syndrome;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.



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