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.

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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

SOURCES: MESH ORPHANET OMIM

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


Potential gene panels for DPAGT1 gene

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

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation Panel

United States.

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 panel

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

Platelet Disorders Panel

United States.

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 panel

Neuromuscular Disorders Sequencing Panel Panel

United States.

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

United States.

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 panel

Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel

United States.

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 Ij (sequence analysis of DPAGT1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DPAGT1 gene.

More info about this panel

Myasthenic syndrome, congenital (NGS panel for 17genes) Panel

Portugal.

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 panel

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

Familial Limb Girdle Myasthenic Syndrome With Tubular Aggregates via DPAGT1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DPAGT1 gene.

More info about this panel

Congenital Myasthenic Syndrome Sequencing Panel with CNV Detection Panel

United States.

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 panel

Comprehensive Neuromuscular Sequencing Panel Panel

United States.

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

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

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

DPAGT1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the DPAGT1 gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

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

Germany.

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

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

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 panel

Mitochondrial Diseases Panel

Germany.

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 panel

Newborn: “Floppy Infant “ Panel

Germany.

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

Germany.

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

Mitochondrial Encephalopathy Panel

Germany.

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 panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

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 panel

Epilepsy Panel

Germany.

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 panel

Glycosylation disorder type 1J Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DPAGT1 gene.

More info about this panel

Glycosylation disorder type 1J Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DPAGT1 gene.

More info about this panel

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

Glycosylation disorder type 1J Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DPAGT1 gene.

More info about this panel

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

Congenital Myasthenic Syndromes and Arthrogryposis Panel Panel

Germany.

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

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

Single gene testing DPAGT1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the DPAGT1 gene.

More info about this panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

United States.

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

United States.

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

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

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

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

Congenital Disorder of Glycosylation Ij: DPAGT1 Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the DPAGT1 gene.

More info about this panel

Congenital Disorder of Glycosylation Ij: DPAGT1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the DPAGT1 gene.

More info about this panel

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

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

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

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

DPAGT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DPAGT1 gene.

More info about this panel

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

Congenital Myasthenic Syndromes Panel Panel

Finland.

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 panel

Arthrogryposes Panel Panel

Finland.

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 panel

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

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

MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel

Spain.

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

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


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