QDPR gene related symptoms and diseases

All the information presented here about the QDPR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to QDPR gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Dysphagia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormality of extrapyramidal motor function Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with QDPR gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Folate deficiency
  • Excessive salivation
  • Progressive encephalopathy
  • Episodic fever
  • Choreoathetosis
  • Progressive neurologic deterioration
  • Myoclonus
  • Cerebral calcification

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to QDPR gene

Here you will find a list of rare diseases related to the QDPR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DIHYDROPTERIDINE REDUCTASE DEFICIENCY


Alternate names

DIHYDROPTERIDINE REDUCTASE DEFICIENCY Is also known as hyperphenylalaninemia due to dihydropteridine reductase deficiency, pku type 2, phenylketonuria type 2

Description

Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties.

Most common symptoms of DIHYDROPTERIDINE REDUCTASE DEFICIENCY

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Dysphagia


More info about DIHYDROPTERIDINE REDUCTASE DEFICIENCY

SOURCES: ORPHANET

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C


Alternate names

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C Is also known as dihydropteridine reductase deficiency, dhpr deficiency, quinoid dihydropteridine reductase deficiency, hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency, qdpr deficiency

Most common symptoms of HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

SOURCES: OMIM


Potential gene panels for QDPR 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

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

Epilepsy/Seizure Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1

More info about this panel

Infantile Epilepsy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5

More info about this panel

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

BH4-Deficient Hyperphenylalaninemia C Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet

This panel specifically test the QDPR gene.

More info about this panel

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

QDPR Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the QDPR gene.

More info about this panel

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

Hyperphenylalaninemia, C (sequence analysis of QDPR gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the QDPR gene.

More info about this panel

Dihydropteridine Reductase (DHPR) Deficiency via QDPR Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the QDPR gene.

More info about this panel

Hyperphenylalaninemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyperphenylalaninemia Sequencing Panel with CNV Detection that also includes the following genes: DNAJC12 GCH1 PAH PCBD1 PTS QDPR

More info about this panel

Quinoid dihydropteridine reductase deficiency (QDPR) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the QDPR gene.

More info about this panel

Hyperphenylalaninemia BH4-deficient C Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the QDPR gene.

More info about this panel

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

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

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

Metabolic Epilepsy Panel Panel

Germany.

By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO

More info about this panel

Hyperphenylalaninemia Panel Panel

Germany.

By CeGaT GmbH Hyperphenylalaninemia Panel that also includes the following genes: GCH1 PCBD1 PTS QDPR

More info about this panel

Single gene testing QDPR Panel

Germany.

By CeGaT GmbH

This panel specifically test the QDPR gene.

More info about this panel

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

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

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

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

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

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

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Lysosomal Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2

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

QDPR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the QDPR gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

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

Metabolic Epilepsy Panel Panel

Finland.

By Blueprint Genetics Metabolic Epilepsy Panel that also includes the following genes: SLC25A1 SLC25A15 SLC2A1 BTD SUOX GPHN L2HGDH SLC39A8 SERAC1 ABAT

More info about this panel

Hyperphenylalaninemia Panel Panel

Finland.

By Blueprint Genetics Hyperphenylalaninemia Panel that also includes the following genes: GCH1 PAH PCBD1 PTS QDPR

More info about this panel

Comprehensive Epilepsy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

Disorders of biopterin regeneration: gene sequencing panel (RAPID testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Disorders of biopterin regeneration: gene sequencing panel (RAPID testing) that also includes the following genes: GCH1 PCBD1 PTS QDPR

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

BH4-deficient Hyperphenylalaninemia C: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the QDPR gene.

More info about this panel


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