ALG3 gene related symptoms and diseases
All the information presented here about the ALG3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALG3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Small nail | Very Common - Between 80% and 100% cases |
| Abnormality of the pinna | Very Common - Between 80% and 100% cases |
| Coloboma | Very Common - Between 80% and 100% cases |
| Severe global developmental delay | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ALG3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Arthrogryposis multiplex congenita
- Arachnodactyly
- Bulbous nose
- Iris coloboma
- Bifid uvula
- Nail dysplasia
- Hypsarrhythmia
- Cerebral visual impairment
And 41 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALG3 gene
Here you will find a list of rare diseases related to the ALG3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALG3-CDG
Alternate names
ALG3-CDG Is also known as cdgid, cdg id, cdgs, type iv, formerly, cdgs4, formerly, carbohydrate-deficient glycoprotein syndrome, type iv, formerly, congenital disorder of glycosylation type id, congenital disorder of glycosylation type 1d, cdg syndrome type id, cdg-id, mannosyltransferase
Description
ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).
Most common symptoms of ALG3-CDG
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Failure to thrive
More info about ALG3-CDG
Search interest in ALG3
Potential gene panels for ALG3 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.
Glycosylation disorder type Id (sequence analysis of ALG3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ALG3 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 Id (CDG Id) via ALG3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ALG3 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.
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 1D Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ALG3 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 ALG3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ALG3 gene.
More info about this panel Germany.
Epilepsy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel Estonia.
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 Id: ALG3 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ALG3 gene.
More info about this panel United States.
Congenital Disorder of Glycosylation Id: ALG3 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ALG3 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.
ALG3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALG3 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.
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 Spain.
Congenital Disorder of Glycosylation Type ID , Sequencing ALG3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ALG3 gene.
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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