Tyrosinemia type II
- Synonyms
- Keratosis palmoplantaris with corneal dystrophy; Oculocutaneous tyrosinemia; Oregon type tyrosinemia; Richner Hanhart syndrome; TAT deficiency; Tyrosine aminotransferase deficiency; Tyrosine transaminase deficiency; Tyrosinemia type 2; Tyrosinosis oculocutaneous type
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Tyrosinemia type II is characterized by corneal dystrophy, painful palmoplantar hyperkeratosis, and variable intellectual disability. Individuals diagnosed and treated from early infancy may be asymptomatic or have only mild ocular and skin manifestations. Individuals with delayed diagnosis or lack of treatment present with ocular, skin, and variable cognitive manifestations.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Zahra Bayzaei
- Seyed Mohsen Dehghani
- Bita Geramizadeh
- view full author information
Available tests
48 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (48 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hypertyrosinemia
Hypertyrosinemia
- MedGen UID: 742296
- Concept ID: C1879362
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypertyrosinemia
- Abnormality of the eye
- Herpetiform corneal ulceration
Herpetiform corneal ulceration
- MedGen UID: 866566
- Concept ID: C4020911
- Finding: Disease or Syndrome
Abnormality of the eye
- Herpetiform corneal ulceration
- Abnormality of the genitourinary system
- 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria
- MedGen UID: 376416
- Concept ID: C1848678
- Finding: Finding
Abnormality of the genitourinary system
- Elevated urine N-acetyltyrosine level
Elevated urine N-acetyltyrosine level
- MedGen UID: 1053434
- Concept ID: CN377311
- Finding: Finding
Abnormality of the genitourinary system
- 4-Hydroxyphenylpyruvic aciduria
- Abnormality of the integument
- Abnormality of the skin
Abnormality of the skin
- MedGen UID: 1845238
- Concept ID: C5848159
- Finding: Anatomical Abnormality
Abnormality of the integument
- Abnormality of the skin
- Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Tyrosine, Tyrosinemia, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Tyrosine Elevated, Succinylacetone Normal, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Tyrosine Normal/Elevated, Succinylacetone Elevated, 2022
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