Tyrosinemia, Type Ii; Tyrsn2

Description

Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992).

Clinical Features

Top most frequent phenotypes and symptoms related to Tyrosinemia, Type Ii; Tyrsn2

  • Intellectual disability
  • Seizures
  • Pica
  • Microcephaly
  • Ataxia
  • Growth delay
  • Nystagmus
  • Delayed speech and language development
  • Pain
  • Tremor
And another 24 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Tyrosinemia, Type Ii; Tyrsn2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
50 %
TAT Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TAT
Specificity
100 %
Genes
50 %
TAT Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TAT
Specificity
100 %
Genes
50 %
TAT Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TAT
Specificity
100 %
Genes
50 %
TAT Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TAT
Specificity
100 %
Genes
50 %
TAT Sequence and Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories in United States.

TAT
Specificity
100 %
Genes
50 %
TAT.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TAT
Specificity
100 %
Genes
50 %
TAT Gene Sequencing.

By GeneDx in United States.

TAT
Specificity
100 %
Genes
50 %
Tyrosinemia type II (sequence analysis of TAT gene).

By CGC Genetics in Portugal.

TAT
Specificity
100 %
Genes
50 %
Tyrosinemia, Type II via the TAT Gene.

By PreventionGenetics PreventionGenetics in United States.

TAT
Specificity
100 %
Genes
50 %
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
50 %
Tyrosinemia type 2.

By Centogene AG - the Rare Disease Company in Germany.

TAT
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH in Germany.

ABCA12, ELOVL4, DSP, TAT, ABHD5, ALDH3A2, PHYH, ALMS1, GJB2, GJB6, SUMF1, TGM1, ATP2A2, ERCC2, ERCC3, GJB3, MBTPS2, EBP, NSDHL, CTSC , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
50 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
50 %
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
50 %
Invitae Tyrosinemia Panel.

By Invitae in United States.

FAH, TAT, HPD
Specificity
34 %
Genes
50 %
Invitae Elevated Tyrosine Panel.

By Invitae in United States.

FAH, TAT, HPD
Specificity
34 %
Genes
50 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
50 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
50 %
TAT.

By Fulgent Genetics Fulgent Genetics in United States.

TAT
Specificity
100 %
Genes
50 %
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
50 %
Tyrosinemia Panel.

By Blueprint Genetics in Finland.

FAH, TAT, HPD
Specificity
34 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
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
50 %
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
50 %
TAT Gene Sequencing and Deletion/Duplication Analysis.

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

TAT
Specificity
100 %
Genes
50 %
TYROSINEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

FAH, TAT, HPD
Specificity
34 %
Genes
50 %
Tyrosinemia Type 2 , Sequencing TAT Gene.

By Reference Laboratory Genetics in Spain.

TAT
Specificity
100 %
Genes
50 %
Tyrosinemia , Panel Massive Sequencing (NGS) FAH, TAT, HPD Genes.

By Reference Laboratory Genetics in Spain.

FAH, TAT, HPD
Specificity
34 %
Genes
50 %
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
50 %
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
50 %
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
50 %
Tyrosinemia, type II: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

TAT
Specificity
100 %
Genes
50 %

Alternate names

Tyrosinemia, Type Ii; Tyrsn2 Is also known as richner-hanhart syndrome, tyrosine aminotransferase deficiency, tat deficiency, tyrosine transaminase deficiency, keratosis palmoplantaris with corneal dystrophy, oregon type tyrosinemia, tyrosinosis, oculocutaneous type;keratosis palmoplantaris-corneal dystrophy syndrome; oculocutaneous tyrosinemia; richner-hanhart syndrome; tyrosinemia due to tat deficiency; tyrosinemia due to tyrosine aminotransferase deficiency; tyrosinemia type ii.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 PARKINSONISM WITH SPASTICITY, X-LINKED; XPDS MYOPATHY, MYOFIBRILLAR, 5; MFM5 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J; CMT2J HEREDITARY ACROKERATOTIC POIKILODERMA, WEARY TYPE 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 DESMOSTEROLOSIS