Phosphoenolpyruvate carboxykinase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PEPCK deficiency |
| Number of Symptoms | 6 |
| OrphanetNr: | 2880 |
| OMIM Id: |
261650
261680 |
| ICD-10: |
E74.4 |
| UMLs: |
C0268194 |
| MeSH: |
C536654 |
| MedDRA: |
|
| Snomed: |
5335002 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 10 cases [Orphanet] |
| Inheritance: |
Autosomal recessive Mitochondrial inheritance [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Gluconeogenesis disorder
-Rare genetic disease |
Symptom Information:
|
|
(HPO:0000799) | Renal steatosis | 6 / 7739 | ||||
|
|
(HPO:0001397) | Hepatic steatosis | 75 / 7739 | ||||
|
|
(HPO:0001399) | Hepatic failure | 80 / 7739 | ||||
|
|
(HPO:0001943) | Hypoglycemia | 131 / 7739 | ||||
|
|
(HPO:0005959) | Impaired gluconeogenesis | 4 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|