Congenital Disorder Of Glycosylation, Type Id; Cdg1d

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).CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Disorder Of Glycosylation, Type Id; Cdg1d

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Strabismus
  • Failure to thrive
  • Muscular hypotonia
  • Abnormal facial shape
  • Flexion contracture
And another 45 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Congenital Disorder Of Glycosylation, Type Id; Cdg1d 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 %
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 %
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 %
Glycosylation disorder type Id (sequence analysis of ALG3 gene).

By CGC Genetics in Portugal.

ALG3
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 Id, Ie, If, Ig, Ih, Ii) with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MPDU1, DPM1, ALG8, ALG2, ALG12, ALG3
Specificity
17 %
Genes
100 %
Congenital Disorders of Glycosylation, Type Id (CDG Id) via ALG3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALG3
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 %
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 1D.

By Centogene AG - the Rare Disease Company in Germany.

ALG3
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 ALG3.

By CeGaT GmbH in Germany.

ALG3
Specificity
100 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 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 Id: ALG3 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALG3
Specificity
100 %
Genes
100 %
Congenital Disorder of Glycosylation Id: ALG3 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALG3
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 %
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 %
ALG3.

By Fulgent Genetics Fulgent Genetics in United States.

ALG3
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 %
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 ID , Sequencing ALG3 Gene.

By Reference Laboratory Genetics in Spain.

ALG3
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 %

Alternate names

Congenital Disorder Of Glycosylation, Type Id; Cdg1d Is also known as cdg id;cdgid, carbohydrate-deficient glycoprotein syndrome, type iv, formerly;cdgs4, formerly, cdgs, type iv, formerly;cdg syndrome type id; cdg-id; cdg1d; carbohydrate deficient glycoprotein syndrome type id; congenital disorder of glycosylation type 1d; congenital disorder of glycosylation type id; mannosyltransferase 6 deficiency.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL; CMS3A GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS ACTH DEFICIENCY, ISOLATED; IAD LACRIMOAURICULODENTODIGITAL SYNDROME; LADD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more