Log In|Sign Up
ENBeta-Ureidopropionase Deficiency (UPB1D)
Alias:
Deficiency of Beta-Ureidopropionase
Beta-Alanine Synthase Deficiency
Upb1d
Favorite
Beta-Ureidopropionase Deficiency, also known as deficiency of beta-ureidopropionase, is related to beta-aminoisobutyric aciduria and hypotonia. An important gene associated with Beta-Ureidopropionase Deficiency is UPB1 (Beta-Ureidopropionase 1). Affiliated tissues include brain and appendix, and related phenotypes are global developmental delay and intellectual disability
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
