DPM3 gene related symptoms and diseases
All the information presented here about the DPM3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DPM3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Increased variability in muscle fiber diameter | Very Common - Between 80% and 100% cases |
| Abnormality of skeletal muscle fiber size | Very Common - Between 80% and 100% cases |
| Elevated creatine kinase after exercise | Very Common - Between 80% and 100% cases |
| Abnormal isoelectric focusing of serum transferrin | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DPM3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypoglycosylation of alpha-dystroglycan
- Muscle fiber necrosis
- Type I transferrin isoform profile
- Pelvic girdle muscle weakness
- Muscle fiber splitting
- Stroke-like episode
- Rimmed vacuoles
- Calf muscle hypertrophy
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DPM3 gene
Here you will find a list of rare diseases related to the DPM3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DPM3-CDG
Alternate names
DPM3-CDG Is also known as cdg1(dpm3), cdg syndrome type io, cdg1o, carbohydrate deficient glycoprotein syndrome type io, congenital disorder of glycosylation type io, cdgio, cdg io, congenital disorder of glycosylation type 1o, cdg-io
Description
DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).
Most common symptoms of DPM3-CDG
- Muscle weakness
- Muscular hypotonia
- Pain
- Cardiomyopathy
- Elevated serum creatine phosphokinase
More info about DPM3-CDG
Search interest in DPM3
Potential gene panels for DPM3 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.
Neuromuscular Disorders Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
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.
Congenital Muscular Dystrophy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Dystrophy that also includes the following genes: RYR1 TCAP SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3
More info about this panel United States.
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 United States.
Congenital Muscular Dystrophy Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Deletion/Duplication Analysis that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RYR1 RXYLT1 SELENON SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
More info about this panel United States.
Glycosylation disorder type Io (sequence analysis of DPM3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DPM3 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.
Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panel United States.
Congenital Muscular Dystrophy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Muscular Dystrophy Sequencing Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL12A1 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Congenital Disorders of Glycosylation, Type Io Plus Secondary Dystroglycanopathy via DPM3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the DPM3 gene.
More info about this panel United States.
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 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 1O Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DPM3 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.
Limb-Girdle Muscular Dystrophies Panel Panel
Germany.
By CeGaT GmbH Limb-Girdle Muscular Dystrophies Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
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 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 United States.
Invitae Dystroglycanopathy Panel Panel
United States.
By Invitae Invitae Dystroglycanopathy Panel that also includes the following genes: RXYLT1 B4GAT1 FKRP POMGNT1 POMT2 GMPPB POMGNT2 POMK DAG1 B3GALNT2
More info about this panel United States.
Invitae Comprehensive Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6
More info about this panel United States.
Invitae Congenital Muscular Dystrophy Panel Panel
United States.
By Invitae Invitae Congenital Muscular Dystrophy Panel that also includes the following genes: TCAP RXYLT1 B4GAT1 FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2 COL6A3
More info about this panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panel United States.
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.
DYSTROGLYCANOPATHY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTROGLYCANOPATHY that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 COL4A1 DAG1 DPM3 FKTN ISPD LARGE1
More info about this panel Spain.
Congenital Disorder of Glycosylation Io: DPM3 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DPM3 gene.
More info about this panel United States.
Congenital Disorder of Glycosylation Io: DPM3 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DPM3 gene.
More info about this panel United States.
Congenital Muscular Dystrophy: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Deletion/Duplication Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
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 Muscular Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Muscular Dystrophy: Sequencing Panel that also includes the following genes: RYR1 TCAP RXYLT1 SELENON FKRP POMGNT1 CHKB POMT2 COL6A1 COL6A2
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.
Muscular Dystrophies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6
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.
Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel that also includes the following genes: B4GAT1 FKRP POMGNT1 POMT2 POMGNT2 DAG1 DPM1 DPM3 FKTN ISPD
More info about this panel United States.
DPM3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DPM3 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 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.
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel
Spain.
By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel Spain.
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