MCID: PHK004
MIFTS: 7

Phkg2-Related Phosphorylase Kinase Deficiency

Categories: Genetic diseases

Aliases & Classifications for Phkg2-Related Phosphorylase Kinase Deficiency

MalaCards integrated aliases for Phkg2-Related Phosphorylase Kinase Deficiency:

Name: Phkg2-Related Phosphorylase Kinase Deficiency 24
Phkg2-Related Glycogen Storage Disease Type Ix 24
Glycogen Storage Disease Type Ixc 24
Glycogen Storage Disease Ixc 69
Gsd Ixc 24
Gsdixc 24

Classifications:



Summaries for Phkg2-Related Phosphorylase Kinase Deficiency

MalaCards based summary : Phkg2-Related Phosphorylase Kinase Deficiency, also known as phkg2-related glycogen storage disease type ix, is related to glycogen storage disease ixc and glycogen storage disease due to liver phosphorylase kinase deficiency. An important gene associated with Phkg2-Related Phosphorylase Kinase Deficiency is PHKG2 (Phosphorylase Kinase Catalytic Subunit Gamma 2).

Related Diseases for Phkg2-Related Phosphorylase Kinase Deficiency

Diseases related to Phkg2-Related Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 glycogen storage disease ixc 11.2
2 glycogen storage disease due to liver phosphorylase kinase deficiency 11.2

Symptoms & Phenotypes for Phkg2-Related Phosphorylase Kinase Deficiency

Drugs & Therapeutics for Phkg2-Related Phosphorylase Kinase Deficiency

Search Clinical Trials , NIH Clinical Center for Phkg2-Related Phosphorylase Kinase Deficiency

Genetic Tests for Phkg2-Related Phosphorylase Kinase Deficiency

Genetic tests related to Phkg2-Related Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phkg2-Related Phosphorylase Kinase Deficiency 24 PHKG2

Anatomical Context for Phkg2-Related Phosphorylase Kinase Deficiency

Publications for Phkg2-Related Phosphorylase Kinase Deficiency

Variations for Phkg2-Related Phosphorylase Kinase Deficiency

ClinVar genetic disease variations for Phkg2-Related Phosphorylase Kinase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PHKG2 PHKG2, 1-BP INS insertion Pathogenic
2 PHKG2 NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu) single nucleotide variant Pathogenic rs137853588 GRCh37 Chromosome 16, 30767512: 30767512
3 PHKG2 NM_000294.2(PHKG2): c.317T> A (p.Val106Glu) single nucleotide variant Pathogenic rs137853589 GRCh37 Chromosome 16, 30762915: 30762915
4 PHKG2 NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic rs137853590 GRCh37 Chromosome 16, 30762461: 30762461
5 PHKG2 PHKG2, 1-BP DEL, 277C deletion Pathogenic
6 PHKG2 NM_000294.2(PHKG2): c.433C> T (p.His145Tyr) single nucleotide variant Pathogenic rs137853591 GRCh37 Chromosome 16, 30764755: 30764755
7 PHKG2 NM_000294.2(PHKG2): c.677T> G (p.Leu226Arg) single nucleotide variant Pathogenic rs137853592 GRCh37 Chromosome 16, 30767717: 30767717

Expression for Phkg2-Related Phosphorylase Kinase Deficiency

Search GEO for disease gene expression data for Phkg2-Related Phosphorylase Kinase Deficiency.

Pathways for Phkg2-Related Phosphorylase Kinase Deficiency

GO Terms for Phkg2-Related Phosphorylase Kinase Deficiency

Sources for Phkg2-Related Phosphorylase Kinase Deficiency

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