COG4 gene related symptoms and diseases
All the information presented here about the COG4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COG4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Limb hypertonia | Very Common - Between 80% and 100% cases |
| Hepatic failure | Very Common - Between 80% and 100% cases |
| Sepsis | Very Common - Between 80% and 100% cases |
| Sloping forehead | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COG4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Chronic diarrhea
- Hypercholesterolemia
- Shock
- Recurrent upper respiratory tract infections
- Elevated alkaline phosphatase
- Failure to thrive in infancy
- Abnormality of the coagulation cascade
- Diffuse cerebral atrophy
And 38 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COG4 gene
Here you will find a list of rare diseases related to the COG4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COG4-CDG
Alternate names
COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij, cdg-iij, cdg syndrome type iij, cdg2j, congenital disorder of glycosylation type iij, congenital disorder of glycosylation type 2j, cdgiij, cdg iij
Description
COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.
Most common symptoms of COG4-CDG
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ataxia
More info about COG4-CDG
Search interest in COG4
Potential gene panels for COG4 gene
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.
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 United States.
Glycosylation disorder type IIj (sequence analysis of COG4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the COG4 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, Type IIj via COG4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the COG4 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.
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.
Glycosylation disorder, congenital type IIj Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COG4 gene.
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, congenital type IIj Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the COG4 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 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 Glycosylation Type IIj: COG4 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the COG4 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.
COG4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COG4 gene.
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.
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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