Details of Disease

General Information of Disease (ID: DIS6OLCY)

Disease Name Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Synonyms
PCKDM; phosphoenolpyruvate carboxykinase 2 deficiency; PEPCK2; PCK2 deficiency; PEPCK2 deficiency; PEPCK 2 deficiency; PEPCK deficiency, mitochondrial; phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Disease Hierarchy
DISOMDLN: Phosphoenolpyruvate carboxykinase deficiency
DIS6OLCY: Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Disease Identifiers
MONDO ID
MONDO_0009864
MESH ID
C564890
UMLS CUI
C1849821
OMIM ID
261650
MedGen ID
376665

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PCK2 OTJ8LX4N Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.