ALG1 gene related symptoms and diseases

All the information presented here about the ALG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ALG1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Ascites Very Common - Between 80% and 100% cases
Jaundice Very Common - Between 80% and 100% cases
Hepatosplenomegaly Very Common - Between 80% and 100% cases
Hypertrophic cardiomyopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ALG1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Thin vermilion border
  • Hepatic failure
  • Nephropathy
  • Nephrotic syndrome
  • Hypogonadism
  • Large fontanelles
  • Portal hypertension
  • Abnormality of coagulation

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ALG1 gene

Here you will find a list of rare diseases related to the ALG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ALG1-CDG

Alternate names

ALG1-CDG Is also known as cdg1k, cdgik, cdg syndrome type ik, congenital disorder of glycosylation type 1k, cdg-ik, mannosyltransferase 1 deficiency, cdg ik, congenital disorder of glycosylation type ik, carbohydrate deficient glycoprotein syndrome type ik

Description

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

Most common symptoms of ALG1-CDG

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


More info about ALG1-CDG

SOURCES: MESH ORPHANET OMIM


Potential gene panels for ALG1 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
United States.

ALG1 Familial Mutation/Variant Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALG1 gene.

More info about this panel
United States.

ALG1 Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALG1 gene.

More info about this panel
United States.

ALG1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the ALG1 gene.

More info about this panel
United States.

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
United States.

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel
United States.

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
United States.

Glycosylation disorder type Ik (sequence analysis of ALG1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALG1 gene.

More info about this panel
Portugal.

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
Portugal.

Glycosylation disorder type Ik (CDG, deletion/duplication analysis of ALG1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALG1 gene.

More info about this panel
Portugal.

Glycosylation disorder type Ik (CDG, deletion/duplication analysis of ALG1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALG1 gene.

More info about this panel
Portugal.

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
United States.

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
Germany.

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
Germany.

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
Germany.

Glycosylation disorder type 1K Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALG1 gene.

More info about this panel
Germany.

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
Germany.

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
Germany.

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
United States.

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
Spain.

Congenital Disorder of Glycosylation Ik: ALG1 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the ALG1 gene.

More info about this panel
United States.

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
United States.

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
United States.

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
United States.

ALG1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALG1 gene.

More info about this panel
United States.

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
United States.

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel
United States.

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
Finland.

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
Finland.

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