DMPK gene related symptoms and diseases
All the information presented here about the DMPK gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DMPK gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability, progressive | Very Common - Between 80% and 100% cases |
| Cataract | Very Common - Between 80% and 100% cases |
| Skeletal muscle atrophy | Very Common - Between 80% and 100% cases |
| Respiratory distress | Very Common - Between 80% and 100% cases |
| Intellectual disability, severe | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with DMPK gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscular hypotonia
- First degree atrioventricular block
- Testicular atrophy
- Myotonia
Not very common - Between 30% and 50% cases
- Mitral valve prolapse
- Insulin resistance
- Hydrops fetalis
- Progressive muscle weakness
And 70 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DMPK gene
Here you will find a list of rare diseases related to the DMPK. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STEINERT MYOTONIC DYSTROPHY
Alternate names
STEINERT MYOTONIC DYSTROPHY Is also known as dm1, md1, myotonic dystrophy type 1, steinert disease
Description
Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness.
Most common symptoms of STEINERT MYOTONIC DYSTROPHY
- Strabismus
- Muscular hypotonia
- Cataract
- Cryptorchidism
- Skeletal muscle atrophy
More info about STEINERT MYOTONIC DYSTROPHY
SOURCES: ORPHANET
MYOTONIC DYSTROPHY 1; DM1
Alternate names
MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1, dystrophia myotonica, steinert disease, dm
Description
Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009).
Most common symptoms of MYOTONIC DYSTROPHY 1; DM1
- Intellectual disability
- Seizures
- Generalized hypotonia
- Muscle weakness
- Muscular hypotonia
More info about MYOTONIC DYSTROPHY 1; DM1
SOURCES: OMIM
Search interest in DMPK
Potential gene panels for DMPK gene
Myotonic Dystrophy Type 1 Repeat Expansion Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic Dystrophy Type 1 Repeat Expansion Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the DMPK gene.
More info about this panel United States.
DMPK DNA Test (DM1) Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the DMPK gene.
More info about this panel United States.
Early Onset Myotonia Evaluation Panel
United States.
By Athena Diagnostics Inc Early Onset Myotonia Evaluation that also includes the following genes: SCN4A CLCN1 DMPK
More info about this panel United States.
Myotonic Syndrome Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Myotonic Syndrome Advanced Evaluation that also includes the following genes: SCN4A CNBP CAV3 CLCN1 DMPK HSPG2 ATP2A1
More info about this panel United States.
Myotonic dystrophy Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic Dystrophy Type 1 Panel
United States.
By Molecular Pathology Laboratory University of Pennsylvania Health System
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic dystrophy type 1 Panel
Canada.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
This panel specifically test the DMPK gene.
More info about this panel Canada.
Myotonic Dystrophy - DMPK Gene Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the DMPK gene.
More info about this panel United States.
myotonic dystrophy type 1 Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the DMPK gene.
More info about this panel Canada.
Myotonic Dystrophy Type 1 Test Panel
United States.
By Genetics Laboratory - Department of Pathology Rush University Medical Center
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic Dystrophy 1 Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic Dystrophy Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic Dystrophy Type 1 Panel
United States.
By United States Air Force Molecular Diagnostic Laboratory United States Air Force
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic Dystrophy Type 1 Panel
United States.
By Molecular Genetics Columbia University
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic Dystrophy Type 1 Panel
New Zealand.
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the DMPK gene.
More info about this panel New Zealand.
Myotonic Dystrophy Type I Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the DMPK gene.
More info about this panel United Kingdom.
Dystrophia myotonica protein kinase (DMPK) gene CTG triplet repeat test Panel
Cyprus.
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the DMPK gene.
More info about this panel Cyprus.
DMPK. CTG expansion detection by PCR and TP-PCR Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DMPK gene.
More info about this panel Spain.
Myotonic dystrophy type I (Steinert disease, DM1, CTG expansion on DMPK gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DMPK gene.
More info about this panel Portugal.
Dystrofia myotonica 1 Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the DMPK gene.
More info about this panel Poland.
MYOTONIC DYSTROPHY TYPE 1 Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the DMPK gene.
More info about this panel India.
Myotonic Dystrophy Type 1 Panel
United States.
By University of Iowa Diagnostic Laboratories University of Iowa Hospitals and Clinics
This panel specifically test the DMPK gene.
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.
Myotonic Dystrophy Type 1 Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the DMPK gene.
More info about this panel Argentina.
Myotonic Dystrophy Type 1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the DMPK gene.
More info about this panel Germany.
Myotonic dystrophy I Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München
This panel specifically test the DMPK gene.
More info about this panel Germany.
Diagnostic génotypique direct de la dystrophie myotonique de Steinert (Gène DM) Panel
Canada.
By Laboratoire de Diagnostic Moleculaire Hopital Saint-Francois d'Assise du CHU de Québec
This panel specifically test the DMPK gene.
More info about this panel Canada.
Myotonic Dystrophy Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the DMPK gene.
More info about this panel India.
Myotonic dystrophy type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DMPK gene.
More info about this panel Germany.
Myotonic Dystrophy Panel
India.
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the DMPK gene.
More info about this panel India.
Test for Myotonic Dystrophy Type 1 Panel
United Kingdom.
By All Wales Genetics Laboratory Institute of Medical Genetics
This panel specifically test the DMPK gene.
More info about this panel United Kingdom.
Myotone Dystrophy Type 1 Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the DMPK gene.
More info about this panel Germany.
Myotone Dystrophy Type 1 Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the DMPK gene.
More info about this panel Germany.
Myotonic Dystrophy type 1 Panel
Chile.
By Molecular Genetics and Cytogenetics, Clinical Laboratory Service Faculty of Medicine, Pontificia Universidad Católica de Chile
This panel specifically test the DMPK gene.
More info about this panel Chile.
Myotonic Dystrophy Type 1 Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the DMPK gene.
More info about this panel Netherlands.
Myotonic dystrophy I Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the DMPK gene.
More info about this panel Austria.
Myotonic Dystrophy Type 1 Panel
Colombia.
By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the DMPK gene.
More info about this panel Colombia.
Myotonic dystrophy type 1: DMPK gene CTG expansion analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the DMPK gene.
More info about this panel Spain.
Myotonic dystrophy type 1: DMPK gene CTG expansion analysis (TP-PCR) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the DMPK gene.
More info about this panel Spain.
Myotonic Dystrophy Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the DMPK gene.
More info about this panel United States.
Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14 Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14 that also includes the following genes: SMN1 SNRPN MEG3 DMPK
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
DMPK Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DMPK gene.
More info about this panel United States.
Myotonic Dystrophy Type 1 - DMPK Gene Panel
Iran.
By Genomic Research Center Shahid Beheshti University of Medical Sciences
This panel specifically test the DMPK gene.
More info about this panel Iran.
Steinert myotonic dystrophy Panel
Spain.
By Bioarray
This panel specifically test the DMPK gene.
More info about this panel Spain.
Exome Panel
Brazil.
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panel Brazil.
Myotonic dystrophy type I mutation analysis Panel
India.
By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics
This panel specifically test the DMPK gene.
More info about this panel India.
Myotonic Dystrophy Type 1 - DMPK Gene Panel
Iran.
By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences
This panel specifically test the DMPK gene.
More info about this panel Iran.
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
Spain.
By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1
More info about this panel Spain.
Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes Panel
Spain.
By Reference Laboratory Genetics Cardiology Genetic Panel (Full) , Panel Massive Sequencing (NGS) 96 Genes that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC25A3 SLC6A4 SNTA1 TAZ
More info about this panel Spain.
Steinert myotonic dystrophy syndrome Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the DMPK gene.
More info about this panel Germany.
Myotonic Dystrophy : Triple repeat expansion CTG study Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the DMPK gene.
More info about this panel India.
Prenatal diagnosis for Myotonic Dystrophy: I or II Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the DMPK gene.
More info about this panel India.
Myotonic dystrophy Panel
India.
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the DMPK gene.
More info about this panel India.
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