PCKDC
MCID: PHS029
MIFTS: 26

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 57 72 29 6
Pepck Deficiency, Cytosolic 57 72
Pck1 Deficiency, Cytosolic 57 72
Pckdc 57 72
Deficiency, Phosphoenolpyruvate Carboxykinase, Cytosolic 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
phosphoenolpyruvate carboxykinase deficiency, cytosolic:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


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) (Updated 20-May-2021)

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 eeg abnormality and global developmental delay

UniProtKB/Swiss-Prot : 72 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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 HP:0002353
2 global developmental delay 31 HP:0001263
3 hepatomegaly 31 HP:0002240
4 optic atrophy 31 HP:0000648
5 hepatic steatosis 31 HP:0001397
6 apnea 31 HP:0002104
7 hepatic failure 31 HP:0001399
8 lactic acidosis 31 HP:0003128
9 cerebral atrophy 31 HP:0002059
10 cyanosis 31 HP:0000961
11 ketonuria 31 HP:0002919
12 fasting hypoglycemia 31 HP:0003162
13 renal steatosis 31 HP:0000799
14 hepatic encephalopathy 31 HP:0002480
15 low plasma citrulline 31 HP:0003572
16 seizure 31 HP:0001250
17 impaired gluconeogenesis 31 HP:0005959

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
cyanosis

Neurologic Central Nervous System:
seizures (in some patients)
hepatic encephalopathy (in 1 patient)

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
impaired gluconeogenesis
lactic acidemia
cytosolic phosphoenolpyruvate carboxykinase deficiency
more
Head And Neck Eyes:
optic nerve atrophy

Respiratory:
apnea, episodic

Clinical features from OMIM®:

261680 (Updated 20-May-2021)

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:

40
Liver

Publications for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

Articles related to Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

# Title Authors PMID Year
1
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. 57 6
24863970 2014
2
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction. 57
28216384 2017
3
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. 57
26971250 2016
4
Gluconeogenesis in infancy and childhood. II. Studies on the glucose production from alanine in three cases of persistent neonatal hypoglycaemia. 57
1274563 1976
5
Gluconeogenesis in infancy and childhood. III. Deficiency of the extramitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycaemia. 57
179269 1976
6
Persistent neonatal hypoglycaemia. A clinical and histopathological study of three cases treated with diazoxide and subtotal pancreatectomy. 57
1092127 1975
7
Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake. 61
32908218 2021

Variations for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

ClinVar genetic disease variations for Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic:

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PCK1 PCK1, 12-BP DEL, NT369 Deletion Pathogenic 440852 GRCh37:
GRCh38:
2 PCK1 NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) SNV Likely pathogenic 807457 rs373906233 GRCh37: 20:56138197-56138197
GRCh38: 20:57563141-57563141
3 PCK1 NM_002591.4(PCK1):c.961+1G>A SNV Likely pathogenic 931905 GRCh37: 20:56138784-56138784
GRCh38: 20:57563728-57563728
4 PCK1 NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) SNV Conflicting interpretations of pathogenicity 338886 rs201186470 GRCh37: 20:56138747-56138747
GRCh38: 20:57563691-57563691
5 PCK1 NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) SNV Conflicting interpretations of pathogenicity 788182 rs147120329 GRCh37: 20:56136474-56136474
GRCh38: 20:57561418-57561418
6 PCK1 NM_002591.4(PCK1):c.64A>G (p.Ser22Gly) SNV Uncertain significance 896030 GRCh37: 20:56136531-56136531
GRCh38: 20:57561475-57561475
7 PCK1 NM_002591.4(PCK1):c.831G>A (p.Lys277=) SNV Uncertain significance 896099 GRCh37: 20:56138653-56138653
GRCh38: 20:57563597-57563597
8 PCK1 NM_002591.4(PCK1):c.903C>T (p.Pro301=) SNV Uncertain significance 896100 GRCh37: 20:56138725-56138725
GRCh38: 20:57563669-57563669
9 PCK1 NM_002591.4(PCK1):c.904G>A (p.Gly302Arg) SNV Uncertain significance 896101 GRCh37: 20:56138726-56138726
GRCh38: 20:57563670-57563670
10 PCK1 NM_002591.4(PCK1):c.*357A>G SNV Uncertain significance 896160 GRCh37: 20:56141217-56141217
GRCh38: 20:57566161-57566161
11 PCK1 NM_002591.4(PCK1):c.*363G>A SNV Uncertain significance 896161 GRCh37: 20:56141223-56141223
GRCh38: 20:57566167-57566167
12 PCK1 NM_002591.4(PCK1):c.*392T>C SNV Uncertain significance 896162 GRCh37: 20:56141252-56141252
GRCh38: 20:57566196-57566196
13 PCK1 NM_002591.4(PCK1):c.577C>T (p.Leu193Phe) SNV Uncertain significance 895814 GRCh37: 20:56137922-56137922
GRCh38: 20:57562866-57562866
14 PCK1 NM_002591.4(PCK1):c.651G>A (p.Thr217=) SNV Uncertain significance 895815 GRCh37: 20:56138124-56138124
GRCh38: 20:57563068-57563068
15 PCK1 NM_002591.4(PCK1):c.716C>T (p.Ser239Leu) SNV Uncertain significance 895816 GRCh37: 20:56138189-56138189
GRCh38: 20:57563133-57563133
16 PCK1 NM_002591.4(PCK1):c.733T>G (p.Cys245Gly) SNV Uncertain significance 895817 GRCh37: 20:56138206-56138206
GRCh38: 20:57563150-57563150
17 PCK1 NM_002591.4(PCK1):c.747G>A (p.Arg249=) SNV Uncertain significance 895818 GRCh37: 20:56138220-56138220
GRCh38: 20:57563164-57563164
18 PCK1 NM_002591.4(PCK1):c.1688C>T (p.Ala563Val) SNV Uncertain significance 895886 GRCh37: 20:56140679-56140679
GRCh38: 20:57565623-57565623
19 PCK1 NM_002591.4(PCK1):c.-40-14G>A SNV Uncertain significance 896027 GRCh37: 20:56136414-56136414
GRCh38: 20:57561358-57561358
20 PCK1 NM_002591.4(PCK1):c.-40-12T>C SNV Uncertain significance 896028 GRCh37: 20:56136416-56136416
GRCh38: 20:57561360-57561360
21 PCK1 NM_002591.4(PCK1):c.-3G>A SNV Uncertain significance 896029 GRCh37: 20:56136465-56136465
GRCh38: 20:57561409-57561409
22 PCK1 NM_002591.4(PCK1):c.824del (p.Gly275fs) Deletion Uncertain significance 632377 rs748437548 GRCh37: 20:56138644-56138644
GRCh38: 20:57563588-57563588
23 PCK1 NM_002591.4(PCK1):c.898C>T (p.Leu300Phe) SNV Uncertain significance 338885 rs61760967 GRCh37: 20:56138720-56138720
GRCh38: 20:57563664-57563664
24 PCK1 NM_002591.4(PCK1):c.*249G>T SNV Uncertain significance 338900 rs886056796 GRCh37: 20:56141109-56141109
GRCh38: 20:57566053-57566053
25 PCK1 NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp) SNV Uncertain significance 338890 rs368426390 GRCh37: 20:56139558-56139558
GRCh38: 20:57564502-57564502
26 PCK1 NM_002591.4(PCK1):c.-54C>T SNV Uncertain significance 338867 rs886056794 GRCh37: 20:56136246-56136246
GRCh38: 20:57561190-57561190
27 PCK1 NM_002591.4(PCK1):c.954C>T (p.Asp318=) SNV Uncertain significance 338887 rs147943264 GRCh37: 20:56138776-56138776
GRCh38: 20:57563720-57563720
28 PCK1 NM_002591.4(PCK1):c.141C>T (p.Asp47=) SNV Uncertain significance 338870 rs45559338 GRCh37: 20:56136608-56136608
GRCh38: 20:57561552-57561552
29 PCK1 NM_002591.4(PCK1):c.*365G>A SNV Uncertain significance 338915 rs886056802 GRCh37: 20:56141225-56141225
GRCh38: 20:57566169-57566169
30 PCK1 NM_002591.4(PCK1):c.1644C>G (p.Ala548=) SNV Uncertain significance 338892 rs183812420 GRCh37: 20:56140635-56140635
GRCh38: 20:57565579-57565579
31 PCK1 NM_002591.4(PCK1):c.*358_*359TG[21] Microsatellite Uncertain significance 338906 rs141075201 GRCh37: 20:56141217-56141218
GRCh38: 20:57566161-57566162
32 PCK1 NM_002591.4(PCK1):c.*358_*359TG[20] Microsatellite Uncertain significance 338905 rs141075201 GRCh37: 20:56141217-56141218
GRCh38: 20:57566161-57566162
33 PCK1 NM_002591.4(PCK1):c.*358_*359TG[17] Microsatellite Uncertain significance 338908 rs141075201 GRCh37: 20:56141218-56141219
GRCh38: 20:57566162-57566163
34 PCK1 NM_002591.4(PCK1):c.*358_*359TG[14] Microsatellite Uncertain significance 338912 rs141075201 GRCh37: 20:56141218-56141225
GRCh38: 20:57566162-57566169
35 PCK1 NM_002591.4(PCK1):c.*357_*360del Deletion Uncertain significance 338903 rs147972610 GRCh37: 20:56141216-56141219
GRCh38: 20:57566160-57566163
36 PCK1 NM_002591.4(PCK1):c.*358_*359TG[15] Microsatellite Uncertain significance 338911 rs141075201 GRCh37: 20:56141218-56141223
GRCh38: 20:57566162-57566167
37 PCK1 NM_002591.4(PCK1):c.228G>T (p.Trp76Cys) SNV Uncertain significance 338873 rs139008325 GRCh37: 20:56137130-56137130
GRCh38: 20:57562074-57562074
38 PCK1 NM_002591.4(PCK1):c.*358_*359TG[24] Microsatellite Uncertain significance 338907 rs141075201 GRCh37: 20:56141217-56141218
GRCh38: 20:57566161-57566162
39 PCK1 NM_002591.4(PCK1):c.*357_*362del Deletion Uncertain significance 338904 rs760440639 GRCh37: 20:56141216-56141221
GRCh38: 20:57566160-57566165
40 PCK1 NM_002591.4(PCK1):c.*349_*350AT[6] Microsatellite Uncertain significance 338901 rs201179319 GRCh37: 20:56141207-56141208
GRCh38: 20:57566151-57566152
41 PCK1 NM_002591.4(PCK1):c.*358_*359TG[16] Microsatellite Uncertain significance 338910 rs141075201 GRCh37: 20:56141218-56141221
GRCh38: 20:57566162-57566165
42 PCK1 NM_002591.4(PCK1):c.*358_*359TG[19] Microsatellite Uncertain significance 338909 rs141075201 GRCh37: 20:56141217-56141218
GRCh38: 20:57566161-57566162
43 PCK1 NM_002591.4(PCK1):c.1537C>T (p.His513Tyr) SNV Uncertain significance 81729 rs267606016 GRCh37: 20:56140528-56140528
GRCh38: 20:57565472-57565472
44 PCK1 NM_002591.4(PCK1):c.1658C>T (p.Thr553Met) SNV Uncertain significance 338893 rs762446688 GRCh37: 20:56140649-56140649
GRCh38: 20:57565593-57565593
45 PCK1 NM_002591.4(PCK1):c.556G>A (p.Asp186Asn) SNV Uncertain significance 338880 rs11552146 GRCh37: 20:56137901-56137901
GRCh38: 20:57562845-57562845
46 PCK1 NM_002591.4(PCK1):c.*202G>A SNV Uncertain significance 338899 rs886056795 GRCh37: 20:56141062-56141062
GRCh38: 20:57566006-57566006
47 PCK1 NM_002591.4(PCK1):c.-64C>T SNV Uncertain significance 338866 rs886056793 GRCh37: 20:56136236-56136236
GRCh38: 20:57561180-57561180
48 PCK1 NM_002591.4(PCK1):c.102C>T (p.Asn34=) SNV Uncertain significance 338869 rs200771350 GRCh37: 20:56136569-56136569
GRCh38: 20:57561513-57561513
49 PCK1 NM_002591.4(PCK1):c.203G>T (p.Arg68Leu) SNV Uncertain significance 338872 rs147273759 GRCh37: 20:56136670-56136670
GRCh38: 20:57561614-57561614
50 PCK1 NM_002591.4(PCK1):c.*361G>A SNV Uncertain significance 338914 rs878859807 GRCh37: 20:56141221-56141221
GRCh38: 20:57566165-57566165

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

72
# Symbol AA change Variation ID SNP ID
1 PCK1 p.Ile45Thr VAR_079633 rs202197769

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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