Citrullinemia, Type Ii, Adult-Onset (CTLN2)

Alias:
Citrin Deficiency
Citrullinemia Type Ii
Ctln2
Adult-Onset Citrullinemia Type 2
Citrullinemia, Adult-Onset Type Ii
Adult-Onset Type Ii Citrullinemia
Adult-Onset Citrullinemia Type Ii
Adult-Onset Citrin Deficiency
Citrullinemia Type 2
Citrullinemia, Type Ii
Citrullinemia 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Citrullinemia, Type Ii, Adult-Onset, also known as citrin deficiency, is related to tyrosinemia and liver disease. An important gene associated with Citrullinemia, Type Ii, Adult-Onset is SLC25A13 (Solute Carrier Family 25 Member 13), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include liver and brain, and related phenotypes are hepatic steatosis and decreased body mass index
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
--
25
130
134

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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