TH gene related symptoms and diseases
All the information presented here about the TH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Generalized hypotonia | Very Common - Between 80% and 100% cases |
| Hypokinesia | Very Common - Between 80% and 100% cases |
| Lethargy | Very Common - Between 80% and 100% cases |
| Parkinsonism | Very Common - Between 80% and 100% cases |
| Bradykinesia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of extrapyramidal motor function
- Drooling
- Postural tremor
- Mask-like facies
- Brisk reflexes
- Opisthotonus
- Lower limb hyperreflexia
- Muscular hypotonia of the trunk
And 34 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TH gene
Here you will find a list of rare diseases related to the TH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA
Alternate names
AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia, dyt5b, dopa-responsive dystonia, autosomal recessive, tyrosine hydroxylase deficiency, dystonia, dopa-responsive, autosomal recessive, parkinsonism, infantile, autosomal recessive, autosomal recessive seg
Description
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.
Most common symptoms of AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA
- Generalized hypotonia
- Ataxia
- Ptosis
- Feeding difficulties
- Delayed speech and language development
More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA
Search interest in TH
Potential gene panels for TH gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Complete Dopa-Responsive Dystonia (DYT5) Evaluation Panel
United States.
By Athena Diagnostics Inc Complete Dopa-Responsive Dystonia (DYT5) Evaluation that also includes the following genes: TH GCH1
More info about this panel United States.
TH DNA Sequencing Test (DYT5) Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the TH gene.
More info about this panel United States.
Dystonia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Movement Disorders Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panel United States.
Parkinson's Disease Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Parkinson's Disease that also includes the following genes: SLC6A3 SNCA TAF1 TH VPS35 FBXO7 PINK1 PARK7 LRRK2 CSF1R
More info about this panel United States.
Tyrosine Hydroxylase Deficiency Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the TH gene.
More info about this panel Denmark.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
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.
TH Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the TH gene.
More info about this panel Germany.
TH Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the TH gene.
More info about this panel United States.
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel
United States.
By GeneDx Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel that also includes the following genes: BTD SPR TH MMACHC CYP27A1 GALC GBE1 GCH1 ABCD1 ARG1
More info about this panel United States.
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the TH gene.
More info about this panel United Kingdom.
TH. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TH gene.
More info about this panel Spain.
Segawa syndrome (sequence analysis of TH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TH gene.
More info about this panel Portugal.
Parkinson disease (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Portugal.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes) Panel
Portugal.
By CGC Genetics Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes) that also includes the following genes: TH GCH1
More info about this panel Portugal.
Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes) Panel
Portugal.
By CGC Genetics Dystonia sensitive to Dopa (deletion/duplication analysis of GCH1 and TH genes) that also includes the following genes: TH GCH1
More info about this panel Portugal.
TH Sequence Analysis Panel
Netherlands.
By Translational Metabolic Laboratory Radboud University Medical Centre
This panel specifically test the TH gene.
More info about this panel Netherlands.
Tyrosine Hydroxylase Deficiency Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the TH gene.
More info about this panel Netherlands.
Dystonia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dystonia Sequencing Panel with CNV Detection that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
Autosomal Recessive DOPA-Responsive Dystonia via TH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TH gene.
More info about this panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
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.
TH dystonia Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the TH gene.
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.
Tyrosine hydroxylase deficiency (TH) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the TH gene.
More info about this panel Netherlands.
DYT5A - DOPA-responsive dystonia Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TH gene.
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.
Parkinsons disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel Germany.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Parkinson all Panel Panel
Germany.
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panel Germany.
Atypical Parkinson syndrome Panel Panel
Germany.
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
More info about this panel Germany.
Parkinson Dystonia Panel Panel
Germany.
By CeGaT GmbH Parkinson Dystonia Panel that also includes the following genes: SLC6A3 SPR TAF1 TH SLC30A10 GCH1 ATP1A3 PLA2G6 PRKRA
More info about this panel Germany.
Dystonia Plus Syndrome Panel Panel
Germany.
By CeGaT GmbH Dystonia Plus Syndrome Panel that also includes the following genes: SGCE SPR TAF1 TH BCAP31 TUBB4A SLC30A10 COX20 FTL GCH1
More info about this panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Single gene testing TH Panel
Germany.
By CeGaT GmbH
This panel specifically test the TH gene.
More info about this panel Germany.
Segawa syndrome Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Segawa syndrome that also includes the following genes: TH GCH1
More info about this panel Poland.
Dystonia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel Estonia.
Parkinson Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7
More info about this panel Estonia.
Dystonia, dopa-responsive / Segawa syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the TH gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Dystonia, dopa-responsive / Segawa syndrome Panel
Slovakia.
By MedGene
This panel specifically test the TH gene.
More info about this panel Slovakia.
Invitae Dystonia Comprehensive Panel Panel
United States.
By Invitae Invitae Dystonia Comprehensive Panel that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ANO3 TUBB4A THAP1 PRRT2 TOR1A
More info about this panel United States.
Invitae Hereditary Parkinson's Disease and Parkinsonism Panel Panel
United States.
By Invitae Invitae Hereditary Parkinson's Disease and Parkinsonism Panel that also includes the following genes: SLC6A3 SNCA SPR TH VPS35 FBXO7 PINK1 DNAJC6 PARK7 LRRK2
More info about this panel United States.
Invitae Neurotransmitter Disorders Panel Panel
United States.
By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
Dopa-responsive dystonia, Autosomal recessive: TH gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TH gene.
More info about this panel Spain.
DYSTONIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTONIA that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
NGS panel - Parkinson Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panel Netherlands.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Dystonia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
Parkinson-Alzheimer-Dementia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
More info about this panel United States.
TH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TH gene.
More info about this panel United States.
Spastic Paraplegia Panel Panel
Finland.
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panel Finland.
Parkinson Disease Panel Panel
Finland.
By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6
More info about this panel Finland.
Dystonia Panel Panel
Finland.
By Blueprint Genetics Dystonia Panel that also includes the following genes: SGCE SLC2A1 SPR TH ANO3 KMT2B BCAP31 THAP1 FA2H ADCY5
More info about this panel Finland.
Autosomal recessive dopa-responsive dystonia Panel
Spain.
By Bioarray
This panel specifically test the TH gene.
More info about this panel Spain.
DYSTONIA, L-DOPA-RESPONSIVE (TYROSINE HYDROXYLASE DEFICIENCY) Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIA, L-DOPA-RESPONSIVE (TYROSINE HYDROXYLASE DEFICIENCY) that also includes the following genes: SGCE TH GCH1
More info about this panel Spain.
MYOCLONUS DYSTONIA (DYT11) Panel
Spain.
By Laboratorio de Genetica Clinica SL MYOCLONUS DYSTONIA (DYT11) that also includes the following genes: SGCE TH KCTD17 DRD2 GCH1
More info about this panel Spain.
DYSTONIAS (DYT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
Autosomal Recessive Dopa-Responsive Dystonia, Sequencing TH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TH gene.
More info about this panel Spain.
Dopa-Responsive Dystonia , Deletions-Duplications (MLPA) GCH1,TH Genes Panel
Spain.
By Reference Laboratory Genetics Dopa-Responsive Dystonia , Deletions-Duplications (MLPA) GCH1,TH Genes that also includes the following genes: TH GCH1
More info about this panel Spain.
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
Dopa-Responsive Dystonia , Panel Massive Sequencing (NGS) GCH1,TH, SPR Genes Panel
Spain.
By Reference Laboratory Genetics Dopa-Responsive Dystonia , Panel Massive Sequencing (NGS) GCH1,TH, SPR Genes that also includes the following genes: SPR TH GCH1
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
Tyrosine Hydroxylase Deficiency: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TH gene.
More info about this panel Canada.
Tyrosine Hydroxylase Deficiency: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TH gene.
More info about this panel Canada.
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