TYMP gene related symptoms and diseases
All the information presented here about the TYMP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TYMP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Decreased muscle mass | Very Common - Between 80% and 100% cases |
| Increased CSF protein | Very Common - Between 80% and 100% cases |
| Abnormality of the vasculature | Very Common - Between 80% and 100% cases |
| Progressive external ophthalmoplegia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TYMP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Mitochondrial myopathy
- Poor appetite
- Scleroderma
- Axonal degeneration
- Difficulty climbing stairs
- Malnutrition
- Slender build
- Decreased motor nerve conduction velocity
And 79 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TYMP gene
Here you will find a list of rare diseases related to the TYMP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY
Alternate names
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome, polip syndrome, mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related, polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction, mngie, mngie, tymp-related
Description
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
Most common symptoms of MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY
- Intellectual disability
- Hearing impairment
- Ataxia
- Sensorineural hearing impairment
- Muscle weakness
More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY
Search interest in TYMP
Potential gene panels for TYMP 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.
TYMP Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the TYMP gene.
More info about this panel United States.
TYMP Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the TYMP gene.
More info about this panel United States.
TYMP Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the TYMP gene.
More info about this panel United States.
TYMP Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the TYMP gene.
More info about this panel United States.
mtDNA Depletion/Integrity Panel (MitomeNGS) Panel
United States.
By Baylor Miraca Genetics Laboratories mtDNA Depletion/Integrity Panel (MitomeNGS) that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 MGME1 RRM2B DGUOK TYMP
More info about this panel United States.
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS) Panel
United States.
By Athena Diagnostics Inc Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS) that also includes the following genes: RRM2B TYMP MT-TL1
More info about this panel United States.
TYMP DNA Sequencing Test (Related to mtDNA depletion) Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the TYMP gene.
More info about this panel United States.
Mitochondrial Depletion Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Mitochondrial Depletion Panel that also includes the following genes: SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TFAM TK2 FBXL4 APTX MGME1
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.
Comprehensive Mitochondrial Metabolic Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3
More info about this panel United States.
Mitochondrial DNA depletion syndrome 1 (MNGIE type) (sequence analysis of TYMP gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TYMP gene.
More info about this panel Portugal.
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel
Portugal.
By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK
More info about this panel Portugal.
Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel
Portugal.
By CGC Genetics Progressive external ophthalmoplegia (NGS panel of 12 genes) that also includes the following genes: SLC25A4 TWNK TK2 MGME1 RRM2B RNASEH1 DGUOK DNA2 TYMP OPA1
More info about this panel Portugal.
Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel
Portugal.
By CGC Genetics Progressive external ophthalmoplegia (NGS panel of 12 genes) that also includes the following genes: SLC25A4 TWNK TK2 MGME1 RRM2B RNASEH1 DGUOK DNA2 TYMP OPA1
More info about this panel Portugal.
TYMP Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the TYMP gene.
More info about this panel Netherlands.
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Disease via TYMP Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TYMP gene.
More info about this panel United States.
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 SUCLG2 TWNK TK2 FBXL4 APTX
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A
More info about this panel United States.
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel United States.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
Mitochondrial Neurogastrointestinal Encephalopathy Disease Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the TYMP gene.
More info about this panel Germany.
Mitochondrial Depletion Panel
Germany.
By MGZ Medical Genetics Center Mitochondrial Depletion that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 MGME1 RRM2B DGUOK TYMP GFER MPV17
More info about this panel Germany.
Combined Respiratory Chain Defects Panel
Germany.
By MGZ Medical Genetics Center Combined Respiratory Chain Defects that also includes the following genes: SUCLA2 SUCLG1 TK2 TSFM TUFM GFM1 MRPS16 MRPS22 PUS1 LRPPRC
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) Panel
Germany.
By MGZ Medical Genetics Center Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) that also includes the following genes: SLC25A4 SPG7 TWNK TK2 MGME1 RRM2B TYMP POLG POLG2
More info about this panel Germany.
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 Germany.
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 Germany.
Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TYMP gene.
More info about this panel Germany.
Mitochondrial dysfunctions panel Panel
Germany.
By Centogene AG - the Rare Disease Company Mitochondrial dysfunctions panel that also includes the following genes: SUCLA2 SUCLG1 TWNK TK2 PUS1 RRM2B DGUOK TYMP MPV17 MT-ND1
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.
Comprehensive mtDNA Depletion Syndromes NGS Panel Panel
United States.
By MNG Laboratories (Medical Neurogenetics, LLC.) Comprehensive mtDNA Depletion Syndromes NGS Panel that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 FBXL4 CHCHD10 MGME1 RRM2B DGUOK
More info about this panel United States.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel
Germany.
By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2
More info about this panel Germany.
TYMP - Mitochondrial Neurogastrointestinal Encephalopathy Disease Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the TYMP gene.
More info about this panel Sweden.
Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel
Estonia.
By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1
More info about this panel Estonia.
Charcot-Marie-Tooth Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panel Estonia.
Metabolic Myopathy and Rhabdomyolysis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Metabolic Myopathy and Rhabdomyolysis that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 CAV3
More info about this panel Estonia.
Lactic Acidosis-Pyruvate NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lactic Acidosis-Pyruvate NGS Panel that also includes the following genes: BCS1L SCO2 SLC25A3 SLC25A4 SUCLA2 SUCLG1 SURF1 TAZ TK2 TSFM
More info about this panel United States.
Myopathy-Rhabdomyolysis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Myopathy-Rhabdomyolysis NGS Panel that also includes the following genes: SUCLA2 TWNK TK2 RRM2B ACAD9 CPT1B CPT2 TYMP AGL GAA
More info about this panel United States.
Mitochondrial DNA Depletion Syndromes NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Mitochondrial DNA Depletion Syndromes NGS Panel that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 RRM2B DGUOK TYMP MPV17 POLG
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.
mtDNA Depletion Syndrome NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics mtDNA Depletion Syndrome NGS Panel that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 RRM2B DGUOK TYMP MPV17 POLG
More info about this panel United States.
TYMP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TYMP gene.
More info about this panel United States.
Neuro-Ophthalmology Panel Panel
Finland.
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panel Finland.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
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.
Metabolic Myopathy and Rhabdomyolysis Panel Panel
Finland.
By Blueprint Genetics Metabolic Myopathy and Rhabdomyolysis Panel that also includes the following genes: RYR1 SCN4A SLC22A5 SUCLA2 TWNK TK2 LPIN1 SLC25A20 CAV3 RBCK1
More info about this panel Finland.
Mitochondrial DNA Depletion Syndrome Panel Panel
Finland.
By Blueprint Genetics Mitochondrial DNA Depletion Syndrome Panel that also includes the following genes: SLC25A3 SLC25A4 SPG7 SUCLA2 SUCLG1 TWNK TIMM8A TK2 WFS1 FBXL4
More info about this panel Finland.
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) Panel
Spain.
By Laboratorio de Genetica Clinica SL MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) that also includes the following genes: RRM2B TYMP POLG
More info about this panel Spain.
Mitochondrial DNA Depletion Syndrome Type 1 (MNGIE Type) , Sequencing TYMP Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TYMP gene.
More info about this panel Spain.
Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes Panel
Spain.
By Reference Laboratory Genetics Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: SLC25A4 SUCLA2 SUCLG1 TWNK TK2 MFN2 RRM2B DGUOK TYMP GFER
More info about this panel Spain.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panel United States.
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TYMP gene.
More info about this panel Canada.
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