Tyrosinemia, Type Iii; Tyrsn3

Description

Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000).

Clinical Features

Top most frequent phenotypes and symptoms related to Tyrosinemia, Type Iii; Tyrsn3

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Motor delay
  • Cognitive impairment
  • Intellectual disability, severe
  • Intellectual disability, mild
  • Abnormality of the nervous system
  • Abnormality of the liver
And another 6 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Tyrosinemia, Type Iii; Tyrsn3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HPD Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

HPD
Specificity
100 %
Genes
100 %
HPD Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

HPD
Specificity
100 %
Genes
100 %
HPD Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

HPD
Specificity
100 %
Genes
100 %
HPD.

By Institute for Human Genetics University Clinic Freiburg in Germany.

HPD
Specificity
100 %
Genes
100 %
HPD Gene Sequencing.

By GeneDx in United States.

HPD
Specificity
100 %
Genes
100 %
Tyrosinemia type III (sequence analysis of HPD gene).

By CGC Genetics in Portugal.

HPD
Specificity
100 %
Genes
100 %
Hawkinsinuria (sequence analysis of HPD gene).

By CGC Genetics in Portugal.

HPD
Specificity
100 %
Genes
100 %
Tyrosinemia Type III and Hawkinsinuria via HPD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HPD
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Tyrosinemia type 3.

By Centogene AG - the Rare Disease Company in Germany.

HPD
Specificity
100 %
Genes
100 %
Hawkinsinuria.

By Centogene AG - the Rare Disease Company in Germany.

HPD
Specificity
100 %
Genes
100 %
Metabolic Epilepsy Panel.

By CeGaT GmbH in Germany.

MTHFR, ARG1, BTD, ADSL, PRODH, GNE, FH, GAMT, ATIC, GCSH, GLDC, AMT, SUOX, ALDH5A1, ALDH7A1, PTS, QDPR, MOCS2, MOCS1, ALDH4A1 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Tyrosinemia Panel.

By Invitae in United States.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Invitae Elevated Tyrosine Panel.

By Invitae in United States.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
HPD.

By Fulgent Genetics Fulgent Genetics in United States.

HPD
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Tyrosinemia Panel.

By Blueprint Genetics in Finland.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Tyrosinemia NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

FAH, TAT, HPD, GSTZ1
Specificity
25 %
Genes
100 %
HPD Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

HPD
Specificity
100 %
Genes
100 %
TYROSINEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Tyrosinemia Type 3 , Sequencing HPD Gene.

By Reference Laboratory Genetics in Spain.

HPD
Specificity
100 %
Genes
100 %
Tyrosinemia , Panel Massive Sequencing (NGS) FAH, TAT, HPD Genes.

By Reference Laboratory Genetics in Spain.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
Tyrosinemia types 1, 2 and 3: gene sequencing panel (RAPID testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

FAH, TAT, HPD
Specificity
34 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Hawkinsinuria: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HPD
Specificity
100 %
Genes
100 %
Tyrosinemia, type III: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HPD
Specificity
100 %
Genes
100 %

Alternate names

Tyrosinemia, Type Iii; Tyrsn3 Is also known as 4-hydroxyphenylpyruvic acid oxidase deficiency, 4-hydroxyphenylpyruvate dioxygenase deficiency;tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency; tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency; tyrosinemia due to hpd deficiency; tyrosinemia type iii.


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