tyrosinemia type II
Findings
No curated finding names tyrosinemia type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0010160), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPO · MondoHP:0001249
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Abnormality of amino acid metabolismHPOHP:0004337
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- HyperhidrosisHPOHP:0000975
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- PhotophobiaHPOHP:0000613
- Frequent (30% to 79% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Occasional (5% to 29% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
Show the remaining 9
- Malar flatteningHPOHP:0000272
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- TremorHPOHP:0001337
- Occasional (5% to 29% of cases)
- Visual lossHPOHP:0000572
- Occasional (5% to 29% of cases)
- Elevated urine N-acetyltyrosine levelHPOHP:6000479
- Hypertyrosinemia
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TATHGNC:11573
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: tyrosinemia type II
- Also called
- keratosis palmoplantaris-corneal dystrophy syndromeoculocutaneous tyrosinemiaRichner-Hanhart syndrometyrosinemia due to TAT deficiencytyrosinemia due to tyrosine aminotransferase deficiency