MCID: PHS029
MIFTS: 19

Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Categories: Genetic diseases

Aliases & Classifications for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

MalaCards integrated aliases for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

Name: Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic 57 75 29 6
Pepck Deficiency, Cytosolic 57 75
Pck1 Deficiency, Cytosolic 57 75
Pckdc 57 75
Deficiency, Phosphoenolpyruvate Carboxykinase, Cytosolic 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
phosphoenolpyruvate carboxykinase deficiency, cytosolic:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

OMIM : 57 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). Affiliated tissues include liver, and related phenotypes are optic atrophy and renal steatosis

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 renal steatosis 32 HP:0000799
3 cyanosis 32 HP:0000961
4 seizures 32 HP:0001250
5 global developmental delay 32 HP:0001263
6 hepatic steatosis 32 HP:0001397
7 hepatic failure 32 HP:0001399
8 hypoglycemia 32 HP:0001943
9 cerebral atrophy 32 HP:0002059
10 apnea 32 HP:0002104
11 eeg abnormality 32 HP:0002353
12 impaired gluconeogenesis 32 HP:0005959

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 29 PCK1

Anatomical Context for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

MalaCards organs/tissues related to Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

41
Liver

Publications for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Variations for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

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

75
# 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 GRCh38 Chromosome 20, 57564347: 57564347
4 PCK1 NM_002591.3(PCK1): c.1140T> C (p.Gly380=) single nucleotide variant Benign rs2070756 GRCh37 Chromosome 20, 56139403: 56139403
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 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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