B4GALT1 gene related symptoms and diseases

All the information presented here about the B4GALT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET.

Top 5 symptoms associated to B4GALT1 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Motor delay Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with B4GALT1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Muscular hypotonia

Not very common - Between 30% and 50% cases

Myopathy

Commonly - More than 50% cases

Macrocephaly

Not very common - Between 30% and 50% cases

Hydrocephalus

Commonly - More than 50% cases

Elevated serum creatine phosphokinase

Not very common - Between 30% and 50% cases

Oxycephaly

Commonly - More than 50% cases

Stroke

Not very common - Between 30% and 50% cases

Dandy-Walker malformation

And 2 more phenotypes.

Mendelian

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Rare diseases associated to B4GALT1 gene

Here you will find a list of rare diseases related to the B4GALT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D

Alternate names

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D Is also known as cdg iid;cdgiid;beta-1,4-galactosyltransferase deficiency; cdg syndrome type iid; cdg-iid; cdg2d; carbohydrate deficient glycoprotein syndrome type iid; congenital disorder of glycosylation type 2d; congenital disorder of glycosylation type iid

Description

Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by Hansske et al., 2002).For a general discussion of CDGs, see CDG1A (OMIM ).

Most common symptoms of CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Motor delay


More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D

SOURCES: SCTID MESH MONDO OMIM GARD UMLS ORPHANET

Potential gene panels for B4GALT1 gene

MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: BRCA1 MTHFR UBE3A VHL MUTYH TP53 MCCC1 MCCC2 AARS2 ABCB11

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

By Baylor Miraca Genetics Laboratories in United States. Congenital Disorders of Glycosylation Panel that also includes the following genes: ATP6V0A2 SRD5A3 GNE DPM3 RFT1 COG1 COG8 TUSC3 MPDU1 DPM1

More info about this panel

Congenital Disorders of Glycosylation Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Congenital Disorders of Glycosylation that also includes the following genes: ATP6V0A2 SRD5A3 GNE DDOST DPM3 RFT1 COG1 COG8 TUSC3 MPDU1

More info about this panel

Glycosylation disorder type IId (sequence analysis of B4GALT1 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the B4GALT1 gene.

More info about this panel

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

By CGC Genetics in Portugal. Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SRD5A3 DDOST DPM3 PGM1 RFT1 COG1 COG8 MPDU1 DPM1 COG7

More info about this panel

Mental retardation - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Mental retardation - different panels that also includes the following genes: FMR1 UBE3A PTEN MCCC1 MCCC2 ACAD9 PC ANKH HLCS ATP7A

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel

By MGZ Medical Genetics Center in Germany. Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SRD5A3 DDOST DHDDS DPM3 PGM1 RFT1 COG1 COG8 TUSC3 MPDU1

More info about this panel

Congenital disorder of glycosylation, type II d (B4GALT1) Panel

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

This panel specifically test the B4GALT1 gene.

More info about this panel

Glycosylation disorder type 2D Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the B4GALT1 gene.

More info about this panel

Glycosylation disorder type 2D Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the B4GALT1 gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

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Glycosylation disorder type 2D Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the B4GALT1 gene.

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

By CeGaT GmbH in Germany. Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SRD5A3 DDOST DPM3 PGM1 RFT1 COG1 COG8 MPDU1 DPM1 COG7

More info about this panel

Congenital Disorders of Glycosylation (CDG) Panel Panel

By CeGaT GmbH in Germany. Congenital Disorders of Glycosylation (CDG) Panel that also includes the following genes: SRD5A3 DDOST DPM3 PGM1 RFT1 COG1 COG8 MPDU1 DPM1 COG7

More info about this panel

Congenital disorder of multiple glycosylation (CDG) Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. Congenital disorder of multiple glycosylation (CDG) that also includes the following genes: ATP6V0A2 SRD5A3 GNE DHDDS DPM3 RFT1 COG1 COG8 TUSC3 MPDU1

More info about this panel

Congenital Disorder of Glycosylation IId: B4GALT1 Gene Sequencing Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

This panel specifically test the B4GALT1 gene.

More info about this panel

Congenital Disorder of Glycosylation IId: B4GALT1 Gene Deletion/Duplication Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

This panel specifically test the B4GALT1 gene.

More info about this panel

Congenital Disorders of Glycosylation: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Congenital Disorders of Glycosylation: Sequencing Panel that also includes the following genes: B4GALT7 ATP6V0A2 SRD5A3 GNE DDOST DHDDS DPM3 PGM1 RFT1 COG1

More info about this panel

Congenital Disorders of Glycosylation: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Congenital Disorders of Glycosylation: Deletion/Duplication Panel that also includes the following genes: B4GALT7 ATP6V0A2 SRD5A3 GNE DDOST DHDDS DPM3 PGM1 RFT1 COG1

More info about this panel

Congenital Disorders of Glycosylation NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Congenital Disorders of Glycosylation NGS Panel that also includes the following genes: ATP6V0A2 SRD5A3 GNE DDOST DHDDS DPM3 RFT1 COG1 COG8 TUSC3

More info about this panel

Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 BCS1L C12orf65 ADSL PAX6

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B4GALT1 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the B4GALT1 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Comprehensive Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 AUH BCS1L TWNK C12orf65

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

By Blueprint Genetics in Finland. Congenital Disorders of Glycosylation Panel that also includes the following genes: ATP6V0A2 SRD5A3 GNE DDOST DHDDS DPM3 PGM1 RFT1 COG1 COG8

More info about this panel

Comprehensive Metabolism Panel Panel

By Blueprint Genetics in Finland. Comprehensive Metabolism Panel that also includes the following genes: HFE MTHFR MCCC1 MCCC2 ACAD9 ACADL ACADM ACADS AGL ACADVL

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

By Reference Laboratory Genetics in Spain. Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: ATP6V0A2 SRD5A3 GNE DHDDS DPM3 RFT1 COG1 COG8 TUSC3 MPDU1

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