DPAGT1 gene related symptoms and diseases
All the information presented here about the DPAGT1 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 DPAGT1 gene
Symptoms // Phenotype | % Cases |
---|---|
Generalized hypotonia | Very Common - Between 80% and 100% cases |
Flexion contracture | Common - Between 50% and 80% cases |
Ptosis | Common - Between 50% and 80% cases |
Motor delay | Common - Between 50% and 80% cases |
Difficulty walking | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with DPAGT1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Proximal muscle weakness
- Frequent falls
- Poor head control
- Scoliosis
Not very common - Between 30% and 50% cases
- Pes planus
- Muscle cramps
- Distal muscle weakness
- Facial palsy
And 60 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DPAGT1 gene
Here you will find a list of rare diseases related to the DPAGT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13
Alternate names
MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13 Is also known as myasthenic syndrome, congenital, with tubular aggregates 2, cmsta2
Description
Congenital myasthenic syndrome-13 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Belaya et al., 2012).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).
Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Ptosis
- Motor delay
More info about MYASTHENIC SYNDROME, CONGENITAL, 13; CMS13
SOURCES: OMIM
DPAGT1-CDG
Alternate names
DPAGT1-CDG Is also known as cdg syndrome type ij, cdg-ij, congenital disorder of glycosylation type 1j, cdgij, cdg1j, carbohydrate deficient glycoprotein syndrome type ij, cdg ij, dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency, congenital disorder of glycosylation ty
Description
DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
Most common symptoms of DPAGT1-CDG
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about DPAGT1-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 DPAGT1
Potential gene panels for DPAGT1 gene
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 panelCongenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel
By Athena Diagnostics Inc Congenital Myasthenic Syndrome Advanced Sequencing Evaluation that also includes the following genes: SCN4A CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7 DPAGT1 AGRN
More info about this panelCongenital 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 panelPlatelet Disorders Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3
More info about this panelNeuromuscular 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 panelCongenital 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
More info about this panelCongenital 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 panelGlycosylation disorder type Ij (sequence analysis of DPAGT1 gene) Panel
By CGC Genetics
This panel specifically test the DPAGT1 gene.
More info about this panelMyasthenic syndrome, congenital (NGS panel for 17genes) Panel
By CGC Genetics Myasthenic syndrome, congenital (NGS panel for 17genes) that also includes the following genes: SCN4A SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7
More info about this panelCongenital 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
More info about this panelFamilial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via DPAGT1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DPAGT1 gene.
More info about this panelCongenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SCN4A SNAP25 STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE COLQ DOK7
More info about this panelComprehensive 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 panelCongenital 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 panelMental 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 panelDPAGT1 Panel
By MGZ Medical Genetics Center
This panel specifically test the DPAGT1 gene.
More info about this panelNeurogenetic 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 panelCongenital 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 panelEpilepsy and Mitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelMitochondrial Diseases Panel
By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12
More info about this panelNewborn: “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 panelMuscle 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 panelMitochondrial Encephalopathy Panel
By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3
More info about this panelMuscle 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
More info about this panelEpilepsy Panel
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelGlycosylation disorder type 1J Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DPAGT1 gene.
More info about this panelGlycosylation disorder type 1J Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DPAGT1 gene.
More info about this panelAllNeuro 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 panelGlycosylation disorder type 1J Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DPAGT1 gene.
More info about this panelCongenital 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 panelCongenital 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 panelCongenital 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 panelSingle gene testing DPAGT1 Panel
By CeGaT GmbH
This panel specifically test the DPAGT1 gene.
More info about this panelInvitae 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 panelInvitae 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 panelInvitae 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 panelCongenital 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 panelCongenital 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
More info about this panelCongenital Disorder of Glycosylation Ij: DPAGT1 Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DPAGT1 gene.
More info about this panelCongenital Disorder of Glycosylation Ij: DPAGT1 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DPAGT1 gene.
More info about this panelCongenital Disorders of Glycosylation: Sequencing Panel Panel
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 panelCongenital Disorders of Glycosylation: Deletion/Duplication Panel Panel
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 panelCongenital 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 panelEpilepsy 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 panelDPAGT1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DPAGT1 gene.
More info about this panelComprehensive 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 panelCongenital Myasthenic Syndromes Panel Panel
By Blueprint Genetics Congenital Myasthenic Syndromes Panel that also includes the following genes: SCN4A STIM1 CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ FLAD1
More info about this panelArthrogryposes Panel Panel
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panelCongenital 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 panelComprehensive 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 panelMYASTHENIC 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 panelCongenital 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
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