ALG2 gene related symptoms and diseases
All the information presented here about the ALG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ALG2 gene
Symptoms // Phenotype | % Cases |
---|---|
Generalized hypotonia | Common - Between 50% and 80% cases |
Facial palsy | Common - Between 50% and 80% cases |
Scoliosis | Common - Between 50% and 80% cases |
Limb-girdle muscle weakness | Common - Between 50% and 80% cases |
Fatigable weakness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ALG2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Gowers sign
- Ragged-red muscle fibers
- Scapular winging
- Lumbar hyperlordosis
- Waddling gait
- Distal muscle weakness
- Knee flexion contracture
- Joint laxity
And 45 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ALG2 gene
Here you will find a list of rare diseases related to the ALG2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14
Alternate names
MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14 Is also known as cmsta3, myasthenic syndrome, congenital, with tubular aggregates 3
Description
Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Ptosis
- Flexion contracture
More info about MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14
SOURCES: OMIM
ALG2-CDG
Alternate names
ALG2-CDG Is also known as congenital disorder of glycosylation type 1i, cdg ii, cdgii, cdg syndrome type ii, mannosyltransferase 2 deficiency, carbohydrate deficient glycoprotein syndrome type ii, cdg1i, congenital disorder of glycosylation type ii, cdg-ii
Description
ALG2-CDG is a form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
Most common symptoms of ALG2-CDG
- Intellectual disability
- Seizures
- Global developmental delay
- Nystagmus
- Cataract
More info about ALG2-CDG
CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT
Most common symptoms of CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT
- Generalized hypotonia
- Scoliosis
- Ptosis
- Flexion contracture
- High palate
More info about CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT
SOURCES: ORPHANET
Search interest in ALG2
Potential gene panels for ALG2 gene
MitoMet®Plus aCGH Analysis Panel

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
ALG2 Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ALG2 gene.
More info about this panel
ALG2 Familial Mutation/Variant Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ALG2 gene.
More info about this panel
ALG2 Prenatal Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ALG2 gene.
More info about this panel
ALG2 Sequence & Deletion/Duplication Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ALG2 gene.
More info about this panel
ALG2 Sequence Analysis Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the ALG2 gene.
More info about this panel
Congenital Disorders of Glycosylation Panel Panel

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 Contractures Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel
Congenital Disorders of Glycosylation Panel

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
Neuromuscular Disorders Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panel
Congenital Myasthenic Syndrome Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Sequencing Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
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Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel

By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Deletion/Duplication Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ
More info about this panel
Glycosylation disorder type Ii (sequence analysis of ALG2 gene) Panel

By CGC Genetics
This panel specifically test the ALG2 gene.
More info about this panel
Congenital disorders of glycosylation (NGS panel for 39 genes) Panel

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
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Congenital Disorders of Glycosylation (CDG) Sequencing Panel (Types Id, Ie, If, Ig, Ih, Ii) with CNV Detection Panel

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
Congenital Disorders of Glycosylation, Type Ii (CDG Ii) via ALG2 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the ALG2 gene.
More info about this panel
Comprehensive Neuromuscular Sequencing Panel Panel

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panel
Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

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

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
ALG2 Panel

By MGZ Medical Genetics Center
This panel specifically test the ALG2 gene.
More info about this panel
Neurogenetic Disorders - panels Panel

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel
Congenital Myasthenic Syndrome (CMS) Panel

By MGZ Medical Genetics Center Congenital Myasthenic Syndrome (CMS) that also includes the following genes: SNAP25 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 ALG14
More info about this panel
Newborn: “Floppy Infant “ Panel

By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel
Muscle Disease with Ptosis / External Ophthalmoplegia Panel

By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE
More info about this panel
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
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AllNeuro panel Panel

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 1I Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the ALG2 gene.
More info about this panel
Congenital Disorders of Glycosylation (CDG) Panel Panel

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
Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

By CeGaT GmbH Congenital Myasthenic Syndromes and Arthrogryposis Panel that also includes the following genes: SCN4A SNAP25 SYT2 TNNI2 TNNT3 TPM2 ADGRG6 SYNE1 FKBP10 NALCN
More info about this panel
Congenital Disorders of Glycosylation (CDG) Panel Panel

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 ALG2 Panel

By CeGaT GmbH
This panel specifically test the ALG2 gene.
More info about this panel
Invitae Comprehensive Neuromuscular Disorders Panel Panel

By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel
Invitae Congenital Myasthenic Syndrome Panel Panel

By Invitae Invitae Congenital Myasthenic Syndrome Panel that also includes the following genes: CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 DPAGT1 AGRN
More info about this panel
Invitae Congenital Disorders of Glycosylation Panel Panel

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

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

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
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Congenital Disorder of Glycosylation Ii: ALG2 Gene Sequencing Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ALG2 gene.
More info about this panel
Congenital Disorder of Glycosylation Ii: ALG2 Gene Deletion/Duplication Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ALG2 gene.
More info about this panel
Congenital Myasthenic Syndromes: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Sequencing Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK
More info about this panel
Congenital Myasthenic Syndromes: Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Myasthenic Syndromes: Deletion/Duplication Panel that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ ALG2 DOK7 MUSK
More info about this panel
Congenital Disorders of Glycosylation NGS Panel Panel

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

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
ALG2 Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALG2 gene.
More info about this panel
Comprehensive Epilepsy NGS Panel Panel

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

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

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
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel

By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: SCN4A SLC18A3 SYT2 SLC5A7 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1
More info about this panel
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Panel

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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