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.

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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). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

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


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

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

DMPK DNA Test (DM1) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the DMPK gene.

More info about this panel

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

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

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

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

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

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

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

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

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

Myotonic Dystrophy Panel

United States.

By Genetics Laboratory Shodair Children's Hospital

This panel specifically test the DMPK gene.

More info about this panel

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

Myotonic Dystrophy Type 1 Panel

United States.

By Molecular Genetics Columbia University

This panel specifically test the DMPK gene.

More info about this panel

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

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

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

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

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

Dystrofia myotonica 1 Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the DMPK gene.

More info about this panel

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

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

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

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

Myotonic Dystrophy Type 1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the DMPK gene.

More info about this panel

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

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

Myotonic Dystrophy Panel

India.

By GeneTech ATS GeneTech Private Limited

This panel specifically test the DMPK gene.

More info about this panel

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

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

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

Myotone Dystrophy Type 1 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the DMPK gene.

More info about this panel

Myotone Dystrophy Type 1 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the DMPK gene.

More info about this panel

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

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

Myotonic dystrophy I Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the DMPK gene.

More info about this panel

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

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

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

Myotonic Dystrophy Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the DMPK gene.

More info about this panel

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

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

DMPK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DMPK gene.

More info about this panel

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

Steinert myotonic dystrophy Panel

Spain.

By Bioarray

This panel specifically test the DMPK gene.

More info about this panel

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

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

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

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

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

Steinert myotonic dystrophy syndrome Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the DMPK gene.

More info about this panel

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

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

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


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