Phosphoenolpyruvate carboxykinase 2 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PCK2 DEFICIENCY
pepck2 deficiency
Number of Symptoms 6
OrphanetNr: 79317
OMIM Id: 261650
ICD-10: E74.4
UMLs: C2931278
MeSH: C536655
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Phosphoenolpyruvate carboxykinase deficiency
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000799) Renal steatosis 6 / 7739
2
(HPO:0001399) Hepatic failure 80 / 7739
3
(HPO:0001397) Hepatic steatosis 75 / 7739
4
(HPO:0005959) Impaired gluconeogenesis 4 / 7739
5
(HPO:0001943) Hypoglycemia 131 / 7739
6
(OMIM) Mitochondrial phosphoenolpyruvate carboxykinase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In 2 unrelated children, Hommes et al. (1976) observed hypoglycemia and liver impairment, with deficiency of PEPCK (614095) in liver tissue taken immediately after death. Massive fatty deposition in liver and kidneys was found at autopsy. Fiser et ...