PCKDC
MCID: PHS029
MIFTS: 19

Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic (PCKDC)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

MalaCards integrated aliases for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

Name: Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 58 76 30 6
Pepck Deficiency, Cytosolic 58 76
Pck1 Deficiency, Cytosolic 58 76
Pckdc 58 76
Deficiency, Phosphoenolpyruvate Carboxykinase, Cytosolic 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

33
phosphoenolpyruvate carboxykinase deficiency, cytosolic:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

OMIM : 58 Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction (Vieira et al., 2017). See PCKDM (261650) for a discussion of mitochondrial PCK (PEPCK2; 614095) deficiency. (261680)

MalaCards based summary : Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic, is also known as pepck deficiency, cytosolic. An important gene associated with Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic is PCK1 (Phosphoenolpyruvate Carboxykinase 1). Related phenotypes are seizures and eeg abnormality

UniProtKB/Swiss-Prot : 76 Phosphoenolpyruvate carboxykinase deficiency, cytosolic: An autosomal recessive metabolic disorder characterized by impaired gluconeogenesis, hypoglycemia, hypotonia, hepatomegaly, hepatic dysfunction, failure to thrive, lactic acidosis, and elevated tricarboxylic acid intermediates, particularly fumarate, in urine.

Related Diseases for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Symptoms & Phenotypes for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Human phenotypes related to Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 eeg abnormality 33 HP:0002353
3 global developmental delay 33 HP:0001263
4 hepatomegaly 33 HP:0002240
5 optic atrophy 33 HP:0000648
6 hypoglycemia 33 HP:0001943
7 hepatic steatosis 33 HP:0001397
8 apnea 33 HP:0002104
9 lactic acidosis 33 HP:0003128
10 hepatic failure 33 HP:0001399
11 cerebral atrophy 33 HP:0002059
12 cyanosis 33 HP:0000961
13 ketonuria 33 HP:0002919
14 fasting hypoglycemia 33 HP:0003162
15 renal steatosis 33 HP:0000799
16 hepatic encephalopathy 33 HP:0002480
17 low plasma citrulline 33 HP:0003572
18 impaired gluconeogenesis 33 HP:0005959

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
cyanosis

Head And Neck Eyes:
optic nerve atrophy

Abdomen Liver:
fatty infiltration
enlarged liver
portal inflammation, mild to moderate portal fibrosis, mild
patchy to diffuse macrovesicular steatosis
acute liver failure, transient (in 1 patient)

Metabolic Features:
ketonuria
fasting hypoglycemia
lactic acidemia
impaired gluconeogenesis
cytosolic phosphoenolpyruvate carboxykinase deficiency
more
Neurologic Central Nervous System:
seizures (in some patients)
hepatic encephalopathy (in 1 patient)

Respiratory:
apnea, episodic

Clinical features from OMIM:

261680

Drugs & Therapeutics for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Search Clinical Trials , NIH Clinical Center for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Genetic Tests for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Genetic tests related to Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

# Genetic test Affiliating Genes
1 Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 30 PCK1

Anatomical Context for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Publications for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Variations for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

UniProtKB/Swiss-Prot genetic disease variations for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

76
# Symbol AA change Variation ID SNP ID
1 PCK1 p.Ile45Thr VAR_079633 rs202197769

ClinVar genetic disease variations for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PCK1 NM_002591.3(PCK1): c.925G> A (p.Gly309Arg) single nucleotide variant Uncertain significance rs201186470 GRCh37 Chromosome 20, 56138747: 56138747
2 PCK1 NM_002591.3(PCK1): c.925G> A (p.Gly309Arg) single nucleotide variant Uncertain significance rs201186470 GRCh38 Chromosome 20, 57563691: 57563691
3 PCK1 NM_002591.3(PCK1): c.1140T> C (p.Gly380=) single nucleotide variant Benign rs2070756 GRCh37 Chromosome 20, 56139403: 56139403
4 PCK1 NM_002591.3(PCK1): c.1140T> C (p.Gly380=) single nucleotide variant Benign rs2070756 GRCh38 Chromosome 20, 57564347: 57564347
5 PCK1 NM_002591.3(PCK1): c.134T> C (p.Ile45Thr) single nucleotide variant Pathogenic rs202197769 GRCh37 Chromosome 20, 56136601: 56136601
6 PCK1 NM_002591.3(PCK1): c.134T> C (p.Ile45Thr) single nucleotide variant Pathogenic rs202197769 GRCh38 Chromosome 20, 57561545: 57561545
7 PCK1 PCK1, 12-BP DEL, NT369 deletion Pathogenic

Expression for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Search GEO for disease gene expression data for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic.

Pathways for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

GO Terms for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Sources for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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