Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (PCKDM)

Alias:
Pepck2 Deficiency
Pck2 Deficiency
Mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency
Phosphoenolpyruvate Carboxykinase 2 Deficiency
Pepck Deficiency, Mitochondrial
Pepck Deficiency, Mi
M-Pepckd
Pckdm
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial, also known as pepck2 deficiency, is related to phosphoenolpyruvate carboxykinase deficiency, cytosolic and phosphoenolpyruvate carboxykinase deficiency. An important gene associated with Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial is PCK2 (Phosphoenolpyruvate Carboxykinase 2, Mitochondrial). Affiliated tissues include liver.

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
2
14
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