PABPN1 gene related symptoms and diseases
All the information presented here about the PABPN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PABPN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ptosis | Very Common - Between 80% and 100% cases |
| Elevated serum creatine phosphokinase | Very Common - Between 80% and 100% cases |
| Ophthalmoplegia | Very Common - Between 80% and 100% cases |
| Myopathy | Very Common - Between 80% and 100% cases |
| Mask-like facies | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PABPN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Rimmed vacuoles
Not very common - Between 30% and 50% cases
- External ophthalmoplegia
- Generalized muscle weakness
- Pigmentary retinopathy
- Progressive muscle weakness
- Neck muscle weakness
- Bilateral ptosis
- Ophthalmoparesis
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PABPN1 gene
Here you will find a list of rare diseases related to the PABPN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OCULOPHARYNGEAL MUSCULAR DYSTROPHY
Alternate names
OCULOPHARYNGEAL MUSCULAR DYSTROPHY Is also known as opmd
Description
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.
Most common symptoms of OCULOPHARYNGEAL MUSCULAR DYSTROPHY
- Ptosis
- Myopathy
- Elevated serum creatine phosphokinase
- Ophthalmoplegia
- Ragged-red muscle fibers
More info about OCULOPHARYNGEAL MUSCULAR DYSTROPHY
SOURCES: ORPHANET
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
Alternate names
OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD Is also known as muscular dystrophy, oculopharyngeal
Most common symptoms of OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
- Muscle weakness
- Ptosis
- Dysarthria
- Skeletal muscle atrophy
- Gait disturbance
More info about OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD
SOURCES: OMIM
Search interest in PABPN1
Potential gene panels for PABPN1 gene
OPMD DNA Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the PABPN1 gene.
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.
Oculopharyngeal muscular dystrophy Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the PABPN1 gene.
More info about this panel Argentina.
Oculopharyngeal muscular dystrophy Panel
Canada.
By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
This panel specifically test the PABPN1 gene.
More info about this panel Canada.
Oculopharyngeal muscular dystrophy Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the PABPN1 gene.
More info about this panel Canada.
Comprehensive Neuromuscular Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
PABPN1. GCG expansion detection by PCR Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PABPN1 gene.
More info about this panel Spain.
Oculopharyngeal muscular dystrophy (GCG expansion on PABPN1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PABPN1 gene.
More info about this panel Portugal.
Congenital muscular dystrophies (NGS panel for 31 genes) Panel
Portugal.
By CGC Genetics Congenital muscular dystrophies (NGS panel for 31 genes) that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panel Portugal.
Oculopharyngeal Muscular Dystrophy via the PABPN1 (GCN) Repeat Expansion Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PABPN1 gene.
More info about this panel United States.
Oculopharyngeal Muscular Dystrophy Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the PABPN1 gene.
More info about this panel Argentina.
PABPN1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the PABPN1 gene.
More info about this panel Germany.
Muscular dystrophy, oculopharyngeal Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PABPN1 gene.
More info about this panel Germany.
Congenital and Distal Myopathies Panel Panel
Germany.
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel Germany.
Muscular Dystrophies Panel Panel
Germany.
By CeGaT GmbH Muscular Dystrophies Panel that also includes the following genes: TCAP TTN SELENON SYNE2 SYNE1 FKRP POMGNT1 CHKB POMT2 COL6A1
More info about this panel Germany.
Single gene testing PABPN1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PABPN1 gene.
More info about this panel Germany.
Oculopharyngeal muscular dystrophy Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PABPN1 gene.
More info about this panel Germany.
Oculopharyngeal muscular dystrophy Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PABPN1 gene.
More info about this panel Germany.
Oculopharyngeal Muscular Dystrophy Panel
Germany.
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the PABPN1 gene.
More info about this panel Germany.
Oculopharyngeal Muscular Dystrophy Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the PABPN1 gene.
More info about this panel Netherlands.
Oculopharyngeal muscular dystrophy Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PABPN1 gene.
More info about this panel Austria.
Oculopharyngeal muscular dystrophy: PABPN1 gene GCN expansion Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PABPN1 gene.
More info about this panel Spain.
Oculopharyngeal Muscular Dystrophy: PABPN1 GCN Repeat Analysis Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the PABPN1 gene.
More info about this panel United States.
Expanded Neuromuscular Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP
More info about this panel United States.
PABPN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PABPN1 gene.
More info about this panel United States.
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panel Finland.
Oculopharyngeal muscular dystrophy Panel
Spain.
By Bioarray
This panel specifically test the PABPN1 gene.
More info about this panel Spain.
MUSCULAR DYSTROPHY, OCULOPHARYNGEAL Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PABPN1 gene.
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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