ALG8 gene related symptoms and diseases
All the information presented here about the ALG8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALG8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
| Tachypnea | Uncommon - Between 30% and 50% cases |
| Pulmonary hypoplasia | Uncommon - Between 30% and 50% cases |
| Ascites | Uncommon - Between 30% and 50% cases |
| Decreased fetal movement | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ALG8 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Cholestasis
- Large fontanelles
- Lymphedema
- Decreased liver function
- Abnormal intestine morphology
- Hypoalbuminemia
- Abnormal cardiac septum morphology
- Protein-losing enteropathy
And 30 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALG8 gene
Here you will find a list of rare diseases related to the ALG8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALG8-CDG
Alternate names
ALG8-CDG Is also known as cdg-ih, congenital disorder of glycosylation type 1h, cdgih, carbohydrate deficient glycoprotein syndrome type ih, cdg1h, cdg syndrome type ih, cdg ih, glucosyltransferase 2 deficiency, congenital disorder of glycosylation type ih
Description
ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.
Most common symptoms of ALG8-CDG
- Generalized hypotonia
- Growth delay
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
More info about ALG8-CDG
POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3
Description
PCLD3 is an autosomal dominant disorder characterized by the development of multiple liver cysts that usually becomes apparent in adulthood. Liver cysts range in size and number, and the clinical severity is variable. Most patients also have a few renal cysts, but they do not result in significant renal disease or renal failure (summary by Besse et al., 2017).For a discussion of genetic heterogeneity of polycystic liver disease, see PCLD1 (OMIM ).
Most common symptoms of POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3
- Renal insufficiency
- Abnormality of the liver
- Renal cyst
- Hepatic cysts
- Polycystic liver disease
More info about POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3
SOURCES: OMIM
Search interest in ALG8
Potential gene panels for ALG8 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.
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.
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.
Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Cystic Diseases of the Liver/Kidney Panel by next-generation sequencing (NGS) that also includes the following genes: DNAJB11 SEC63 ALG8 DZIP1L GANAB LRP5 PKD2 PKHD1 PRKCSH
More info about this panel United States.
Polycystic kidney and liver disease modifier panel Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Polycystic kidney and liver disease modifier panel that also includes the following genes: HNF1B TSC1 TSC2 UMOD DNAJB11 SEC61B SEC61A1 SEC63 ALG8 DZIP1L
More info about this panel United Kingdom.
Lymphedema NGS Multi-Gene Panel (36 Genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1
More info about this panel Netherlands.
Glycosylation disorder type Ih (sequence analysis of ALG8 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALG8 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.
Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Id, Ie, If, Ig, Ih, Ii) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Id, Ie, If, Ig, Ih, Ii) with CNV Detection that also includes the following genes: ALG12 ALG3 ALG2 ALG8 DPM1 MPDU1
More info about this panel United States.
Congenital Disorders of Glycosylation, Type Ih (CDG Ih) via ALG8 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ALG8 gene.
More info about this panel United States.
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.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
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 1H Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALG8 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.
Single gene testing ALG8 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ALG8 gene.
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 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 Spain.
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 Ih: ALG8 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ALG8 gene.
More info about this panel United States.
Congenital Disorder of Glycosylation Ih: ALG8 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ALG8 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: 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 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.
ALG8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALG8 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.
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.
POLYCYSTIC LIVER DISEASE Panel
Spain.
By Laboratorio de Genetica Clinica SL POLYCYSTIC LIVER DISEASE that also includes the following genes: SEC63 ALG8 LRP5 PRKCSH
More info about this panel Spain.
POLYCYSTIC LIVER DISEASE NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL POLYCYSTIC LIVER DISEASE NGS PANEL that also includes the following genes: SEC63 ALG8 LRP5 PRKCSH
More info about this panel Spain.
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 Spain.
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