ALG6 gene related symptoms and diseases

All the information presented here about the ALG6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ALG6 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Alopecia of scalp Very Common - Between 80% and 100% cases
Intention tremor Very Common - Between 80% and 100% cases
Broad-based gait Very Common - Between 80% and 100% cases
Cerebral visual impairment Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ALG6 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal intestine morphology
  • Polycystic ovaries
  • Partial agenesis of the corpus callosum
  • Hyperinsulinemic hypoglycemia
  • Dysmetria
  • Protein-losing enteropathy
  • Type I transferrin isoform profile
  • Frontal balding

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ALG6 gene

Here you will find a list of rare diseases related to the ALG6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALG6-CDG


Alternate names

ALG6-CDG Is also known as cdg1c, cdg ic, cdgs5, formerly, cdg-ic, carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly, cdgic, congenital disorder of glycosylation type 1c, carbohydrate-deficient glycoprotein synd

Description

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

Most common symptoms of ALG6-CDG

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


More info about ALG6-CDG

SOURCES: OMIM MESH ORPHANET


Potential gene panels for ALG6 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

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

Congenital Disorders of Glycosylation, type 1c Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the ALG6 gene.

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

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

Autosomal Recessive Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Autosomal Recessive Non-Specific Intellectual Disability Panel that also includes the following genes: ST3GAL3 SLC25A1 STXBP1 VLDLR ERLIN2 CA8 CNTNAP2 ARFGEF2 PCNT L2HGDH

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

ALG6. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ALG6 gene.

More info about this panel

Glycosylation disorder type Ic (sequence analysis of ALG6 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALG6 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 Ic (CDG Ic) via ALG6 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ALG6 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

Glycosylation disorder type 1C Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALG6 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 1C Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALG6 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

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

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 ALG6 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ALG6 gene.

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 Ic: ALG6 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ALG6 gene.

More info about this panel

Congenital Disorder of Glycosylation Ic: ALG6 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ALG6 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

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

ALG6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALG6 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

Congenital disorder of glycosylation type Ic Panel

Spain.

By Bioarray

This panel specifically test the ALG6 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 IC , Sequencing ALG6 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALG6 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


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