Tyrosinemia, Type Ii (TYRSN2)

Alias:
Tyrosinemia Type Ii
Oculocutaneous Tyrosinemia
Richner-Hanhart Syndrome
Keratosis Palmoplantaris with Corneal Dystrophy
Tyrosinemia Due to Tyrosine Aminotransferase Deficiency
Keratosis Palmoplantaris-Corneal Dystrophy Syndrome
Tyrosine Aminotransferase Deficiency
Tyrosinemia Due to Tat Deficiency
Tyrosine Transaminase Deficiency
Tyrosinemia Type 2
Tat Deficiency
Tyrsn2
Tyrosine Transaminase Deficiency Disease
Tyrosinosis, Oculocutaneous Type
Tyrosinosis Oculocutaneous Type
Oregon Type Tyrosinemia
Tyrosinemia Oregon Type
Tyrosinemia 2
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Tyrosinemia, Type Ii, also known as tyrosinemia type ii, is related to tyrosinemia and keratitis, hereditary. An important gene associated with Tyrosinemia, Type Ii is TAT (Tyrosine Aminotransferase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and corneal opacity
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
20
100
26

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top