Phosphoenolpyruvate carboxykinase 1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: PCK1 DEFICIENCY, CYTOSOLIC
PEPCK DEFICIENCY, CYTOSOLIC
PEPCK1 deficiency
Number of Symptoms 18
OrphanetNr: 79316
OMIM Id: 261680
ICD-10: E74.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

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:0000648) Optic atrophy 238 / 7739
3
(HPO:0001250) Seizures 1245 / 7739
4
(HPO:0001263) Global developmental delay 853 / 7739
5
(HPO:0002353) EEG abnormality 188 / 7739
6
(HPO:0001399) Hepatic failure 80 / 7739
7
(HPO:0001397) Hepatic steatosis 75 / 7739
8
(HPO:0000961) Cyanosis 60 / 7739
9
(HPO:0001943) Hypoglycemia 131 / 7739
10
(HPO:0005959) Impaired gluconeogenesis 4 / 7739
11
(HPO:0002104) Apnea 106 / 7739
12
(OMIM) Apnea, episodic 2 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(HPO:0002059) Cerebral atrophy 171 / 7739
15
(OMIM) Developmental delay, severe 13 / 7739
16
(OMIM) Cytosolic phosphoenolpyruvate carboxykinase deficiency 1 / 7739
17
(OMIM) Fatty infiltration 2 / 7739
18
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sovik et al. (1975) reported a boy who developed generalized seizures on the second day of life and was found to have severe hypoglycemia. He also had frequent attacks of cyanosis and apnea. At age 8 weeks, he ...