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Cad-Cdg

Alias:
Carbohydrate Deficient Glycoprotein Syndrome Type Iz
Congenital Disorder of Glycosylation Type 1z
Cdg Syndrome Type Iz
Cdg-Iz
Cdg1z
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cad-Cdg, also known as carbohydrate deficient glycoprotein syndrome type iz, is related to developmental and epileptic encephalopathy 50. An important gene associated with Cad-Cdg is CAD (Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase).
Related ID：
MALACARDS：CDC005

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
6
--
CDC005

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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