PCKDM
MCID: PHS028
MIFTS: 24

Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (PCKDM)

Categories: Liver diseases, Rare diseases

Aliases & Classifications for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

MalaCards integrated aliases for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:

Name: Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 57 29 6 70
Phosphoenolpyruvate Carboxykinase 2 Deficiency 20 70
Pepck Deficiency, Mitochondrial 57 13
Pck2 Deficiency 57 20
Deficiency, Phosphoenolpyruvate Carboxykinase, Mitochondrial 39
Mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency 72
Pepck 2 Deficiency 20
Pepck2 Deficiency 57
M-Pepckd 72
Pepck2 20
Pckdm 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
also a cytosolic form (261680)


HPO:

31
phosphoenolpyruvate carboxykinase deficiency, mitochondrial:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 261650
MedGen 41 C1849821
UMLS 70 C1849821 C2931278

Summaries for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

UniProtKB/Swiss-Prot : 72 Mitochondrial phosphoenolpyruvate carboxykinase deficiency: Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.

MalaCards based summary : Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial, also known as phosphoenolpyruvate carboxykinase 2 deficiency, is related to pepck 1 deficiency and phosphoenolpyruvate carboxykinase deficiency, cytosolic. An important gene associated with Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial is PCK2 (Phosphoenolpyruvate Carboxykinase 2, Mitochondrial). Affiliated tissues include liver, and related phenotypes are hypoglycemia and hepatic steatosis

More information from OMIM: 261650

Related Diseases for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Diseases related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pepck 1 deficiency 30.6 PCK2 NRL
2 phosphoenolpyruvate carboxykinase deficiency, cytosolic 11.0
3 mitochondrial dna depletion syndrome 3 10.2
4 sudden infant death syndrome 10.2
5 fanconi syndrome 10.2
6 liver disease 10.2
7 hypoglycemia 10.2

Graphical network of the top 20 diseases related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:



Diseases related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Symptoms & Phenotypes for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Human phenotypes related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:

31
# Description HPO Frequency HPO Source Accession
1 hypoglycemia 31 HP:0001943
2 hepatic steatosis 31 HP:0001397
3 hepatic failure 31 HP:0001399
4 renal steatosis 31 HP:0000799
5 impaired gluconeogenesis 31 HP:0005959

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Metabolic:
hypoglycemia
impaired gluconeogenesis

G U:
fatty kidneys

G I:
liver failure
fatty liver

Lab:
mitochondrial phosphoenolpyruvate carboxykinase deficiency

Clinical features from OMIM®:

261650 (Updated 05-Apr-2021)

Drugs & Therapeutics for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

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

Genetic Tests for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Genetic tests related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:

# Genetic test Affiliating Genes
1 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 29 PCK2

Anatomical Context for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

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

40
Liver

Publications for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Articles related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:

# Title Authors PMID Year
1
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. 57
8394647 1993
2
Mitochondrial phosphoenolpyruvate carboxykinase deficiency. 57
2044592 1991
3
Mitochondrial phosphoenolpyruvate carboxykinase deficiency. 57
3089795 1986
4
The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis. 57
6775276 1980
5
Two cases of phosphoenolpyruvate carboxykinase deficiency. 57
176867 1976
6
Mitochondrial Phosphoenolpyruvate Carboxykinase Regulates Osteogenic Differentiation by Modulating AMPK/ULK1-Dependent Autophagy. 61
31574189 2019

Variations for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

ClinVar genetic disease variations for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NRL , PCK2 NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) SNV Pathogenic 451808 rs753706965 GRCh37: 14:24567800-24567800
GRCh38: 14:24098591-24098591
2 NRL , PCK2 NM_004563.4(PCK2):c.1468+2T>C SNV Pathogenic 440999 rs148019349 GRCh37: 14:24572466-24572466
GRCh38: 14:24103257-24103257
3 NRL , PCK2 NM_004563.4(PCK2):c.1234+1G>T SNV Pathogenic 503636 rs138881435 GRCh37: 14:24569423-24569423
GRCh38: 14:24100214-24100214
4 NRL , PCK2 NM_004563.4(PCK2):c.1125dup (p.Thr376fs) Duplication Pathogenic 1032910 GRCh37: 14:24569308-24569309
GRCh38: 14:24100099-24100100
5 NRL , PCK2 NM_004563.4(PCK2):c.1469-1G>A SNV Pathogenic 452765 rs376278710 GRCh37: 14:24572718-24572718
GRCh38: 14:24103509-24103509
6 NRL , PCK2 NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) SNV Conflicting interpretations of pathogenicity 374449 rs61752842 GRCh37: 14:24566139-24566139
GRCh38: 14:24096930-24096930
7 NRL , PCK2 NM_004563.4(PCK2):c.1907G>A (p.Arg636His) SNV Uncertain significance 1030819 GRCh37: 14:24573157-24573157
GRCh38: 14:24103948-24103948
8 NRL , PCK2 NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser) SNV Uncertain significance 618263 rs61737098 GRCh37: 14:24573006-24573006
GRCh38: 14:24103797-24103797
9 NRL , PCK2 NM_004563.4(PCK2):c.287G>A (p.Arg96His) SNV Uncertain significance 1032911 GRCh37: 14:24567423-24567423
GRCh38: 14:24098214-24098214
10 NRL , PCK2 NM_004563.4(PCK2):c.157C>T (p.Arg53Cys) SNV Uncertain significance 1032912 GRCh37: 14:24566228-24566228
GRCh38: 14:24097019-24097019
11 NRL , PCK2 NM_004563.4(PCK2):c.362= (p.Pro121=) Variation Benign 803011 GRCh37: 14:24567498-24567498
GRCh38: 14:24098289-24098289

Expression for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

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

Pathways for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

GO Terms for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Sources for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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