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Cystathioninuria (CSTNU)

Alias:
Gamma-Cystathionase Deficiency
Cystathionase Deficiency
Cystathionine Gamma-Lyase Deficiency Syndrome
Cystathione Gamma-Lyase Deficiency Syndrome
Cstnu
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cystathioninuria, also known as gamma-cystathionase deficiency, is related to mitochondrial dna depletion syndrome 3 and mitochondrial dna depletion syndrome. An important gene associated with Cystathioninuria is CTH (Cystathionine Gamma-Lyase), 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 cystathioninuria and intellectual disability
Related ID：
MALACARDS：CYS019
OMIM：219500
MESH：C535408

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/100000
11
53
22
CYS019

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!
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