MCID: PHS028
MIFTS: 21

Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Categories: 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 73
Phosphoenolpyruvate Carboxykinase 2 Deficiency 53 73
Pepck Deficiency, Mitochondrial 57 13
Pck2 Deficiency 57 53
Deficiency, Phosphoenolpyruvate Carboxykinase, Mitochondrial 40
Mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency 75
Pepck 2 Deficiency 53
Pepck2 Deficiency 57
M-Pepckd 75
Pepck2 53
Pckdm 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
also a cytosolic form (261680)


HPO:

32
phosphoenolpyruvate carboxykinase deficiency, mitochondrial:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

UniProtKB/Swiss-Prot : 75 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 phosphoenolpyruvate carboxykinase deficiency, cytosolic and pepck 1 deficiency. An important gene associated with Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial is PCK2 (Phosphoenolpyruvate Carboxykinase 2, Mitochondrial). Affiliated tissues include liver and kidney, and related phenotypes are renal steatosis and hepatic steatosis

Description 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 phosphoenolpyruvate carboxykinase deficiency, cytosolic 11.0
2 pepck 1 deficiency 10.1

Symptoms & Phenotypes for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Symptoms via clinical synopsis from OMIM:

57
Metabolic:
hypoglycemia
impaired gluconeogenesis

GU:
fatty kidneys

GI:
fatty liver
liver failure

Lab:
mitochondrial phosphoenolpyruvate carboxykinase deficiency


Clinical features from OMIM:

261650

Human phenotypes related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:

32
# Description HPO Frequency HPO Source Accession
1 renal steatosis 32 HP:0000799
2 hepatic steatosis 32 HP:0001397
3 hepatic failure 32 HP:0001399
4 hypoglycemia 32 HP:0001943
5 impaired gluconeogenesis 32 HP:0005959

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:

41
Liver, Kidney

Publications for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Articles related to Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:

# Title Authors Year
1
Mitochondrial phosphoenolpyruvate carboxykinase deficiency. ( 2044592 )
1991
2
Mitochondrial phosphoenolpyruvate carboxykinase deficiency. ( 3089795 )
1986

Variations for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

ClinVar genetic disease variations for Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PCK2 NM_004563.3(PCK2): c.1468+2T> C single nucleotide variant not provided rs148019349 GRCh37 Chromosome 14, 24572466: 24572466
2 PCK2 NM_004563.3(PCK2): c.1468+2T> C single nucleotide variant not provided rs148019349 GRCh38 Chromosome 14, 24103257: 24103257
3 PCK2 NM_004563.3(PCK2): c.577C> T (p.Arg193Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs753706965 GRCh38 Chromosome 14, 24098591: 24098591
4 PCK2 NM_004563.3(PCK2): c.577C> T (p.Arg193Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs753706965 GRCh37 Chromosome 14, 24567800: 24567800

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 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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