HPD gene related symptoms and diseases
All the information presented here about the HPD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HPD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| 4-Hydroxyphenylpyruvic aciduria | Very Common - Between 80% and 100% cases |
| 4-Hydroxyphenylacetic aciduria | Very Common - Between 80% and 100% cases |
| Hypertyrosinemia | Very Common - Between 80% and 100% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Fine hair | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HPD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Acidosis
- Irritability
- Sparse hair
- Metabolic acidosis
- Tachypnea
- Vomiting
- Renal tubular acidosis
- Severe failure to thrive
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HPD gene
Here you will find a list of rare diseases related to the HPD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TYROSINEMIA TYPE 3
Alternate names
TYROSINEMIA TYPE 3 Is also known as tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency, 4-hydroxyphenylpyruvic acid oxidase deficiency, tyrosinemia type iii, 4-hydroxyphenylpyruvate dioxygenase deficiency, tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency, tyrosine
Description
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
Most common symptoms of TYROSINEMIA TYPE 3
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Cognitive impairment
More info about TYROSINEMIA TYPE 3
HAWKINSINURIA
Alternate names
HAWKINSINURIA Is also known as 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency, 4-hppd deficiency, 4-hydroxyphenylpyruvic acid dioxygenase deficiency
Description
Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
Most common symptoms of HAWKINSINURIA
- Microcephaly
- Growth delay
- Failure to thrive
- Muscular hypotonia
- Hepatomegaly
More info about HAWKINSINURIA
Search interest in HPD
Potential gene panels for HPD gene
HPD Familial Mutation/Variant Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the HPD gene.
More info about this panel United States.
HPD Prenatal Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the HPD gene.
More info about this panel United States.
HPD Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the HPD gene.
More info about this panel United States.
HPD Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the HPD gene.
More info about this panel Germany.
HPD Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the HPD gene.
More info about this panel United States.
Tyrosinemia type III (sequence analysis of HPD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HPD gene.
More info about this panel Portugal.
Hawkinsinuria (sequence analysis of HPD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HPD gene.
More info about this panel Portugal.
Tyrosinemia Type III and Hawkinsinuria via HPD Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HPD gene.
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.
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.
Tyrosinemia type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HPD gene.
More info about this panel Germany.
Hawkinsinuria Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HPD gene.
More info about this panel Germany.
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 Germany.
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 Tyrosinemia Panel Panel
United States.
By Invitae Invitae Tyrosinemia Panel that also includes the following genes: TAT FAH HPD
More info about this panel United States.
Invitae Elevated Tyrosine Panel Panel
United States.
By Invitae Invitae Elevated Tyrosine Panel that also includes the following genes: TAT FAH HPD
More info about this panel United States.
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 United States.
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 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.
HPD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HPD gene.
More info about this panel United States.
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 United States.
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.
Tyrosinemia Panel Panel
Finland.
By Blueprint Genetics Tyrosinemia Panel that also includes the following genes: TAT FAH HPD
More info about this panel Finland.
Baby Genes Targeted Panel Panel
United States.
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel United States.
Tyrosinemia NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Tyrosinemia NGS and Deletion/Duplication Panel that also includes the following genes: TAT FAH GSTZ1 HPD
More info about this panel United States.
HPD Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the HPD gene.
More info about this panel United States.
TYROSINEMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL TYROSINEMIA that also includes the following genes: TAT FAH HPD
More info about this panel Spain.
Tyrosinemia Type 3 , Sequencing HPD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HPD gene.
More info about this panel Spain.
Tyrosinemia , Panel Massive Sequencing (NGS) FAH, TAT, HPD Genes Panel
Spain.
By Reference Laboratory Genetics Tyrosinemia , Panel Massive Sequencing (NGS) FAH, TAT, HPD Genes that also includes the following genes: TAT FAH HPD
More info about this panel Spain.
Tyrosinemia types 1, 2 and 3: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Tyrosinemia types 1, 2 and 3: gene sequencing panel (RAPID testing) that also includes the following genes: TAT FAH HPD
More info about this panel Canada.
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 Canada.
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 Canada.
Hawkinsinuria: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HPD gene.
More info about this panel Canada.
Tyrosinemia, type III: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the HPD gene.
More info about this panel Canada.
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