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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET MESH


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

HPD Prenatal Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HPD gene.

More info about this panel

HPD Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the HPD gene.

More info about this panel

HPD Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the HPD gene.

More info about this panel

HPD Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the HPD gene.

More info about this panel

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

Hawkinsinuria (sequence analysis of HPD gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HPD gene.

More info about this panel

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

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

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

Tyrosinemia type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HPD gene.

More info about this panel

Hawkinsinuria Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HPD gene.

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

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 Tyrosinemia Panel Panel

United States.

By Invitae Invitae Tyrosinemia Panel that also includes the following genes: TAT FAH HPD

More info about this panel

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

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

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

HPD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HPD 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

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

Tyrosinemia Panel Panel

Finland.

By Blueprint Genetics Tyrosinemia Panel that also includes the following genes: TAT FAH HPD

More info about this panel

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

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

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

TYROSINEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL TYROSINEMIA that also includes the following genes: TAT FAH HPD

More info about this panel

Tyrosinemia Type 3 , Sequencing HPD Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HPD gene.

More info about this panel

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

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KIF3A C1QTNF3-AMACR ASCC1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more