SPR gene related symptoms and diseases
All the information presented here about the SPR 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 SPR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Involuntary movements | Very Common - Between 80% and 100% cases |
| Oculomotor apraxia | Very Common - Between 80% and 100% cases |
| Abnormal autonomic nervous system physiology | Very Common - Between 80% and 100% cases |
| Muscle stiffness | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SPR gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Horizontal nystagmus
- Truncal ataxia
- Clonus
- Choreoathetosis
- Drooling
- Progressive neurologic deterioration
- Apraxia
- Abnormality of extrapyramidal motor function
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SPR gene
Here you will find a list of rare diseases related to the SPR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Alternate names
DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd, spr deficiency, drd due to srd, sepiapterin reductase deficiency, autosomal recessive sepiapterin reductase-deficient drd
Description
Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.
Most common symptoms of DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
Search interest in SPR
Potential gene panels for SPR 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.
Sepiapterin Reductase Deficiency - SPR Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the SPR 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.
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the SPR 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.
SPR Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SPR gene.
More info about this panel Germany.
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.
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panel Netherlands.
SPR. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SPR gene.
More info about this panel Spain.
Dystonia, DOPA-responsive, AR (sequence analysis of SPR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SPR gene.
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.
Sepiapterin Reductase (SR) Deficiency via SPR Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SPR gene.
More info about this panel United States.
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.
Parkinson Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2
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.
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.
Dystonia, DOPA-responsive, AR Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SPR 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.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
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.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
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 SPR Panel
Germany.
By CeGaT GmbH
This panel specifically test the SPR gene.
More info about this panel Germany.
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.
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 Elevated Phenylalanine Panel Panel
United States.
By Invitae Invitae Elevated Phenylalanine Panel that also includes the following genes: SPR GCH1 PAH PCBD1 PTS QDPR
More info about this panel United States.
Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
United States.
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panel United States.
Invitae Hyperphenylalaninemia Panel Panel
United States.
By Invitae Invitae Hyperphenylalaninemia Panel that also includes the following genes: SPR GCH1 PAH PCBD1 PTS QDPR
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.
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.
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.
Dystonia Dyskinesia NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Dystonia Dyskinesia NGS Panel that also includes the following genes: SCP2 SGCE SLC6A3 SPR TAF1 THAP1 DRD2 DRD5 PRRT2 TOR1A
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.
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.
SPR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SPR 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.
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency Panel
Spain.
By Bioarray
This panel specifically test the SPR gene.
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.
DYSTONIA, DOPA-RESPONSIVE (SEPIAPTERIN REDUCTASE DEFICIENCY) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SPR gene.
More info about this panel Spain.
Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency, Sequencing SPR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SPR gene.
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.
Sepiapterin Reductase Deficiency: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SPR gene.
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TPM1 DMXL2 UMOD MTHFD1 FBN2 NKX2-1 ACSF3