Dicarboxylic Aminoaciduria (DCBXA)

Alias:
Glutamate-Aspartate Transport Defect
Dicarboxylicaminoaciduria
Dcbxa
Renal Aminoacidurias
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dicarboxylic Aminoaciduria, also known as glutamate-aspartate transport defect, is related to obsessive-compulsive disorder and aminoaciduria. An important gene associated with Dicarboxylic Aminoaciduria is SLC1A1 (Solute Carrier Family 1 Member 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Transmission across Chemical Synapses. Affiliated tissues include kidney and lung, and related phenotypes are aspartic aciduria and nephrolithiasis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
19
87
5

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