MCID: PPC001
MIFTS: 28

Pepck 1 Deficiency

Categories: Rare diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Pepck 1 Deficiency

MalaCards integrated aliases for Pepck 1 Deficiency:

Name: Pepck 1 Deficiency 50
Phosphoenolpyruvate Carboxykinase Deficiency 50 24 56 69
Phosphoenolpyruvate Carboxykinase-1 Deficiency 50
Phosphoenolpyruvate Carboxykinase Deficiency 29
Phosphoenolpyruvate Carboxylase Deficiency 50
Phosphopyruvate Carboxylase Deficiency 50
Phosphoenolpyruvate Carboxykinase-1 13
Pep Carboxykinase Deficiency 50
Pepck Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
phosphoenolpyruvate carboxykinase deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

Orphanet 56 ORPHA2880
MESH via Orphanet 43 C536654
UMLS via Orphanet 70 C0268194
ICD10 via Orphanet 34 E74.4

Summaries for Pepck 1 Deficiency

NIH Rare Diseases : 50 pepck1 deficiency is a rare inborn error of metabolism disorder,  characterized by the deficiency of the enzyme pepck1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). the symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from  severe early-onset cases, to milder late-onset presentations. in severe cases symptoms may include  persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. milder cases present during childhood with fewer and less serious liver problems. infections and fasting may trigger the symptoms. pepck1 deficiency inheritance is autosomal recessive. it is caused by mutations in the pepck1 gene. some researchers believe that the severity of the disease depend upon the mutations resulting in less or more pepck1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian. pepck1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (pepck) enzyme, the other being the mitochondrial (pepck2).  last updated: 9/12/2017

MalaCards based summary : Pepck 1 Deficiency, also known as phosphoenolpyruvate carboxykinase deficiency, is related to phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency and pepck deficiency, mitochondrial, and has symptoms including cyanosis and seizures. An important gene associated with Pepck 1 Deficiency is PCK2 (Phosphoenolpyruvate Carboxykinase 2, Mitochondrial), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Glycosaminoglycan metabolism. Affiliated tissues include liver, and related phenotypes are Increased cell death HMECs cells and Negative genetic interaction between PTTG1-/- and PTTG1+/+

Related Diseases for Pepck 1 Deficiency

Diseases related to Pepck 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency 11.9
2 pepck deficiency, mitochondrial 11.8
3 acute liver failure 10.0
4 hepatitis 10.0
5 gastroenteritis 10.0
6 hypoglycemia 10.0
7 maturity-onset diabetes of the young 6 9.5 PCK1 PCK2
8 perilymphatic fistula 9.2 PCK1 PCK2

Graphical network of the top 20 diseases related to Pepck 1 Deficiency:



Diseases related to Pepck 1 Deficiency

Symptoms & Phenotypes for Pepck 1 Deficiency

UMLS symptoms related to Pepck 1 Deficiency:


cyanosis, seizures

GenomeRNAi Phenotypes related to Pepck 1 Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.96 PCK1 PCK2
2 Negative genetic interaction between PTTG1-/- and PTTG1+/+ GR00255-A-4 8.62 PCK1 PCK2

Drugs & Therapeutics for Pepck 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Pepck 1 Deficiency

Genetic Tests for Pepck 1 Deficiency

Genetic tests related to Pepck 1 Deficiency:

id Genetic test Affiliating Genes
1 Phosphoenolpyruvate Carboxykinase (gtp) Deficiency 29
2 Phosphoenolpyruvate Carboxykinase Deficiency 24 PCK2

Anatomical Context for Pepck 1 Deficiency

MalaCards organs/tissues related to Pepck 1 Deficiency:

39
Liver

Publications for Pepck 1 Deficiency

Variations for Pepck 1 Deficiency

Expression for Pepck 1 Deficiency

Search GEO for disease gene expression data for Pepck 1 Deficiency.

Pathways for Pepck 1 Deficiency

Pathways related to Pepck 1 Deficiency according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 PCK1 PCK2
2
Show member pathways
12.27 PCK1 PCK2
3
Show member pathways
12.09 PCK1 PCK2
4 12.08 PCK1 PCK2
5 11.96 PCK1 PCK2
6
Show member pathways
11.89 PCK1 PCK2
7
Show member pathways
11.6 PCK1 PCK2
8 11.55 PCK1 PCK2
9
Show member pathways
11.44 PCK1 PCK2
10
Show member pathways
11.38 PCK1 PCK2
11 11.33 PCK1 PCK2
12 11.11 PCK1 PCK2
13 10.99 PCK1 PCK2
14
Show member pathways
10.58 PCK1 PCK2
15 9.98 PCK1 PCK2

GO Terms for Pepck 1 Deficiency

Biological processes related to Pepck 1 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.26 PCK1 PCK2
2 cellular response to tumor necrosis factor GO:0071356 9.16 PCK1 PCK2
3 gluconeogenesis GO:0006094 8.96 PCK1 PCK2
4 oxaloacetate metabolic process GO:0006107 8.62 PCK1 PCK2

Molecular functions related to Pepck 1 Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.37 PCK1 PCK2
2 lyase activity GO:0016829 9.32 PCK1 PCK2
3 carboxy-lyase activity GO:0016831 9.26 PCK1 PCK2
4 purine nucleotide binding GO:0017076 9.16 PCK1 PCK2
5 phosphoenolpyruvate carboxykinase (GTP) activity GO:0004613 8.96 PCK1 PCK2
6 phosphoenolpyruvate carboxykinase activity GO:0004611 8.62 PCK1 PCK2

Sources for Pepck 1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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