MCID: PPC001
MIFTS: 33

Pepck 1 Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Pepck 1 Deficiency

MalaCards integrated aliases for Pepck 1 Deficiency:

Name: Pepck 1 Deficiency 53
Phosphoenolpyruvate Carboxykinase Deficiency 53 59 73
Phosphoenolpyruvate Carboxykinase Deficiency 29 6
Phosphoenolpyruvate Carboxykinase-1 Deficiency 53
Phosphoenolpyruvate Carboxylase Deficiency 53
Phosphopyruvate Carboxylase Deficiency 53
Phosphoenolpyruvate Carboxykinase-1 13
Pep Carboxykinase Deficiency 53
Pepck Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
phosphoenolpyruvate carboxykinase deficiency
Inheritance: Autosomal recessive,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA2880
MESH via Orphanet 45 C536654
UMLS via Orphanet 74 C0268194
ICD10 via Orphanet 34 E74.4
UMLS 73 C0268194

Summaries for Pepck 1 Deficiency

NIH Rare Diseases : 53 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). 

MalaCards based summary : Pepck 1 Deficiency, also known as phosphoenolpyruvate carboxykinase deficiency, is related to phosphoenolpyruvate carboxykinase deficiency, mitochondrial and phosphoenolpyruvate carboxykinase deficiency, cytosolic, 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 PI3K-Akt signaling pathway and Regulation of lipid metabolism Insulin signaling-generic cascades. Affiliated tissues include liver, and related phenotypes are Increased cell death HMECs cells and Negative genetic interaction between PTTG1-/- and PTTG1+/+

Wikipedia : 76 Phosphoenolpyruvate carboxykinase (PEPCK) is an enzyme in the lyase family used in the metabolic pathway... more...

Related Diseases for Pepck 1 Deficiency

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

# Related Disease Score Top Affiliating Genes
1 phosphoenolpyruvate carboxykinase deficiency, mitochondrial 12.7
2 phosphoenolpyruvate carboxykinase deficiency, cytosolic 12.6
3 neuronitis 10.2
4 infantile liver failure syndrome 1 10.1
5 acute liver failure 10.1
6 hepatitis 10.1
7 gastroenteritis 10.1
8 hypoglycemia 10.1
9 diabetes mellitus, noninsulin-dependent 9.0 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
# 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:

# Genetic test Affiliating Genes
1 Phosphoenolpyruvate Carboxykinase (gtp) Deficiency 29

Anatomical Context for Pepck 1 Deficiency

MalaCards organs/tissues related to Pepck 1 Deficiency:

41
Liver

Publications for Pepck 1 Deficiency

Articles related to Pepck 1 Deficiency:

# Title Authors Year
1
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. ( 28216384 )
2017
2
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. ( 26971250 )
2016
3
Mitochondrial phosphoenolpyruvate carboxykinase deficiency. ( 2044592 )
1991
4
Hepatic phosphoenolpyruvate carboxykinase deficiency: a neonatal case with reduced activity of pyruvate carboxylase. ( 2515381 )
1989
5
Mitochondrial phosphoenolpyruvate carboxykinase deficiency. ( 3089795 )
1986
6
Two cases of phosphoenolpyruvate carboxykinase deficiency. ( 176867 )
1976

Variations for Pepck 1 Deficiency

ClinVar genetic disease variations for Pepck 1 Deficiency:

6
(show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCK1 NM_002591.3(PCK1): c.102C> T (p.Asn34=) single nucleotide variant Uncertain significance rs200771350 GRCh38 Chromosome 20, 57561513: 57561513
2 PCK1 NM_002591.3(PCK1): c.102C> T (p.Asn34=) single nucleotide variant Uncertain significance rs200771350 GRCh37 Chromosome 20, 56136569: 56136569
3 PCK1 NM_002591.3(PCK1): c.282C> T (p.Ile94=) single nucleotide variant Likely benign rs6070157 GRCh37 Chromosome 20, 56137184: 56137184
4 PCK1 NM_002591.3(PCK1): c.282C> T (p.Ile94=) single nucleotide variant Likely benign rs6070157 GRCh38 Chromosome 20, 57562128: 57562128
5 PCK1 NM_002591.3(PCK1): c.489A> G (p.Ser163=) single nucleotide variant Benign rs1062601 GRCh37 Chromosome 20, 56137834: 56137834
6 PCK1 NM_002591.3(PCK1): c.489A> G (p.Ser163=) single nucleotide variant Benign rs1062601 GRCh38 Chromosome 20, 57562778: 57562778
7 PCK1 NM_002591.3(PCK1): c.538G> A (p.Val180Ile) single nucleotide variant Uncertain significance rs367998997 GRCh37 Chromosome 20, 56137883: 56137883
8 PCK1 NM_002591.3(PCK1): c.538G> A (p.Val180Ile) single nucleotide variant Uncertain significance rs367998997 GRCh38 Chromosome 20, 57562827: 57562827
9 PCK1 NM_002591.3(PCK1): c.556G> A (p.Asp186Asn) single nucleotide variant Uncertain significance rs11552146 GRCh37 Chromosome 20, 56137901: 56137901
10 PCK1 NM_002591.3(PCK1): c.556G> A (p.Asp186Asn) single nucleotide variant Uncertain significance rs11552146 GRCh38 Chromosome 20, 57562845: 57562845
11 PCK1 NM_002591.3(PCK1): c.826G> A (p.Glu276Lys) single nucleotide variant Likely benign rs11552145 GRCh37 Chromosome 20, 56138648: 56138648
12 PCK1 NM_002591.3(PCK1): c.826G> A (p.Glu276Lys) single nucleotide variant Likely benign rs11552145 GRCh38 Chromosome 20, 57563592: 57563592
13 PCK1 NM_002591.3(PCK1): c.898C> T (p.Leu300Phe) single nucleotide variant Uncertain significance rs61760967 GRCh37 Chromosome 20, 56138720: 56138720
14 PCK1 NM_002591.3(PCK1): c.898C> T (p.Leu300Phe) single nucleotide variant Uncertain significance rs61760967 GRCh38 Chromosome 20, 57563664: 57563664
15 PCK1 NM_002591.3(PCK1): c.925G> A (p.Gly309Arg) single nucleotide variant Uncertain significance rs201186470 GRCh37 Chromosome 20, 56138747: 56138747
16 PCK1 NM_002591.3(PCK1): c.925G> A (p.Gly309Arg) single nucleotide variant Uncertain significance rs201186470 GRCh38 Chromosome 20, 57563691: 57563691
17 PCK1 NM_002591.3(PCK1): c.954C> T (p.Asp318=) single nucleotide variant Uncertain significance rs147943264 GRCh37 Chromosome 20, 56138776: 56138776
18 PCK1 NM_002591.3(PCK1): c.954C> T (p.Asp318=) single nucleotide variant Uncertain significance rs147943264 GRCh38 Chromosome 20, 57563720: 57563720
19 PCK1 NM_002591.3(PCK1): c.1207A> G (p.Asn403Asp) single nucleotide variant Uncertain significance rs368426390 GRCh37 Chromosome 20, 56139558: 56139558
20 PCK1 NM_002591.3(PCK1): c.1207A> G (p.Asn403Asp) single nucleotide variant Uncertain significance rs368426390 GRCh38 Chromosome 20, 57564502: 57564502
21 PCK1 NM_002591.3(PCK1): c.1644C> G (p.Ala548=) single nucleotide variant Uncertain significance rs183812420 GRCh38 Chromosome 20, 57565579: 57565579
22 PCK1 NM_002591.3(PCK1): c.1644C> G (p.Ala548=) single nucleotide variant Uncertain significance rs183812420 GRCh37 Chromosome 20, 56140635: 56140635
23 PCK1 NM_002591.3(PCK1): c.*202G> A single nucleotide variant Uncertain significance rs886056795 GRCh38 Chromosome 20, 57566006: 57566006
24 PCK1 NM_002591.3(PCK1): c.*202G> A single nucleotide variant Uncertain significance rs886056795 GRCh37 Chromosome 20, 56141062: 56141062
25 PCK1 NM_002591.3(PCK1): c.*357_*358dupAT duplication Uncertain significance rs886056797 GRCh38 Chromosome 20, 57566161: 57566162
26 PCK1 NM_002591.3(PCK1): c.*357_*358dupAT duplication Uncertain significance rs886056797 GRCh37 Chromosome 20, 56141217: 56141218
27 PCK1 NM_002591.3(PCK1): c.*382_*393dupTGTGTGTGTGTG duplication Uncertain significance rs766499960 GRCh38 Chromosome 20, 57566186: 57566197
28 PCK1 NM_002591.3(PCK1): c.*382_*393dupTGTGTGTGTGTG duplication Uncertain significance rs766499960 GRCh37 Chromosome 20, 56141242: 56141253
29 PCK1 NM_002591.3(PCK1): c.*388_*393dupTGTGTG duplication Uncertain significance rs766499960 GRCh38 Chromosome 20, 57566192: 57566197
30 PCK1 NM_002591.3(PCK1): c.*388_*393dupTGTGTG duplication Uncertain significance rs766499960 GRCh37 Chromosome 20, 56141248: 56141253
31 PCK1 NM_002591.3(PCK1): c.*390_*393dupTGTG duplication Uncertain significance rs766499960 GRCh38 Chromosome 20, 57566194: 57566197
32 PCK1 NM_002591.3(PCK1): c.*390_*393dupTGTG duplication Uncertain significance rs766499960 GRCh37 Chromosome 20, 56141250: 56141253
33 PCK1 NM_002591.3(PCK1): c.*392_*393delTG deletion Uncertain significance rs796152008 GRCh38 Chromosome 20, 57566196: 57566197
34 PCK1 NM_002591.3(PCK1): c.*392_*393delTG deletion Uncertain significance rs796152008 GRCh37 Chromosome 20, 56141252: 56141253
35 PCK1 NM_002591.3(PCK1): c.-54C> T single nucleotide variant Uncertain significance rs886056794 GRCh38 Chromosome 20, 57561190: 57561190
36 PCK1 NM_002591.3(PCK1): c.-54C> T single nucleotide variant Uncertain significance rs886056794 GRCh37 Chromosome 20, 56136246: 56136246
37 PCK1 NM_002591.3(PCK1): c.69A> G (p.Leu23=) single nucleotide variant Benign rs1042521 GRCh38 Chromosome 20, 57561480: 57561480
38 PCK1 NM_002591.3(PCK1): c.69A> G (p.Leu23=) single nucleotide variant Benign rs1042521 GRCh37 Chromosome 20, 56136536: 56136536
39 PCK1 NM_002591.3(PCK1): c.141C> T (p.Asp47=) single nucleotide variant Uncertain significance rs45559338 GRCh38 Chromosome 20, 57561552: 57561552
40 PCK1 NM_002591.3(PCK1): c.141C> T (p.Asp47=) single nucleotide variant Uncertain significance rs45559338 GRCh37 Chromosome 20, 56136608: 56136608
41 PCK1 NM_002591.3(PCK1): c.799A> G (p.Ile267Val) single nucleotide variant Likely benign rs8192708 GRCh37 Chromosome 20, 56138621: 56138621
42 PCK1 NM_002591.3(PCK1): c.799A> G (p.Ile267Val) single nucleotide variant Likely benign rs8192708 GRCh38 Chromosome 20, 57563565: 57563565
43 PCK1 NM_002591.3(PCK1): c.1140T> C (p.Gly380=) single nucleotide variant Benign rs2070756 GRCh38 Chromosome 20, 57564347: 57564347
44 PCK1 NM_002591.3(PCK1): c.1140T> C (p.Gly380=) single nucleotide variant Benign rs2070756 GRCh37 Chromosome 20, 56139403: 56139403
45 PCK1 NM_002591.3(PCK1): c.*357_*358delAT deletion Likely benign rs886056798 GRCh38 Chromosome 20, 57566161: 57566162
46 PCK1 NM_002591.3(PCK1): c.*357_*358delAT deletion Likely benign rs886056798 GRCh37 Chromosome 20, 56141217: 56141218
47 PCK1 NM_002591.3(PCK1): c.*359G> A single nucleotide variant Likely benign rs3211338 GRCh37 Chromosome 20, 56141219: 56141219
48 PCK1 NM_002591.3(PCK1): c.*359G> A single nucleotide variant Likely benign rs3211338 GRCh38 Chromosome 20, 57566163: 57566163
49 PCK1 NM_002591.3(PCK1): c.*365G> A single nucleotide variant Uncertain significance rs886056802 GRCh38 Chromosome 20, 57566169: 57566169
50 PCK1 NM_002591.3(PCK1): c.*365G> A single nucleotide variant Uncertain significance rs886056802 GRCh37 Chromosome 20, 56141225: 56141225

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 PCK1 PCK2
2
Show member pathways
12.31 PCK1 PCK2
3
Show member pathways
12.27 PCK1 PCK2
4
Show member pathways
12.09 PCK1 PCK2
5 11.98 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:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.54 PCK1 PCK2
2 cellular response to tumor necrosis factor GO:0071356 9.52 PCK1 PCK2
3 cellular response to insulin stimulus GO:0032869 9.51 PCK1 PCK2
4 cellular response to glucose stimulus GO:0071333 9.49 PCK1 PCK2
5 gluconeogenesis GO:0006094 9.48 PCK1 PCK2
6 response to starvation GO:0042594 9.46 PCK1 PCK2
7 cellular response to dexamethasone stimulus GO:0071549 9.43 PCK1 PCK2
8 response to lipid GO:0033993 9.4 PCK1 PCK2
9 pyruvate metabolic process GO:0006090 9.37 PCK1 PCK2
10 nitrogen compound metabolic process GO:0006807 9.32 PCK1 PCK2
11 hepatocyte differentiation GO:0070365 9.26 PCK1 PCK2
12 oxaloacetate metabolic process GO:0006107 9.16 PCK1 PCK2
13 propionate catabolic process GO:0019543 8.96 PCK1 PCK2
14 glycerol biosynthetic process from pyruvate GO:0046327 8.62 PCK1 PCK2

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.4 PCK1 PCK2
2 lyase activity GO:0016829 9.37 PCK1 PCK2
3 manganese ion binding GO:0030145 9.32 PCK1 PCK2
4 carboxy-lyase activity GO:0016831 9.26 PCK1 PCK2
5 purine nucleotide binding GO:0017076 9.16 PCK1 PCK2
6 phosphoenolpyruvate carboxykinase activity GO:0004611 8.96 PCK1 PCK2
7 phosphoenolpyruvate carboxykinase (GTP) activity GO:0004613 8.62 PCK1 PCK2

Sources for Pepck 1 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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