Aica-Ribosuria Due to Atic Deficiency (AICAR)

Alias:
Aica-Ribosiduria Due to Atic Deficiency
Aicar Transformylase/imp Cyclohydrolase Deficiency
Aica-Ribosiduria
Atic Deficiency
Aicar Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
5-Amino-4-Imidazole Carboxamide Ribosiduria
Aicar
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aica-Ribosuria Due to Atic Deficiency, also known as aica-ribosiduria due to atic deficiency, is related to adenylosuccinase deficiency and abdominal obesity-metabolic syndrome 1, and has symptoms including seizures An important gene associated with Aica-Ribosuria Due to Atic Deficiency is ATIC (5-Aminoimidazole-4-Carboxamide Ribonucleotide Formyltransferase/IMP Cyclohydrolase). Affiliated tissues include eye and skeletal muscle, and related phenotypes are seizure and brachycephaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
1
3
4

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