MCID: PHK001
MIFTS: 5

Phka1-Related Phosphorylase Kinase Deficiency malady

Categories: Genetic diseases

Aliases & Classifications for Phka1-Related Phosphorylase Kinase Deficiency

Aliases & Descriptions for Phka1-Related Phosphorylase Kinase Deficiency:

Name: Phka1-Related Phosphorylase Kinase Deficiency 24
Phka1-Related Glycogen Storage Disease Type Ix 24
Glycogen Storage Disease Type Ixd 24

Classifications:



Summaries for Phka1-Related Phosphorylase Kinase Deficiency

MalaCards based summary : Phka1-Related Phosphorylase Kinase Deficiency, also known as phka1-related glycogen storage disease type ix, is related to muscle glycogenosis. An important gene associated with Phka1-Related Phosphorylase Kinase Deficiency is PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1).

Related Diseases for Phka1-Related Phosphorylase Kinase Deficiency

Diseases related to Phka1-Related Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 muscle glycogenosis 12.0

Symptoms & Phenotypes for Phka1-Related Phosphorylase Kinase Deficiency

Drugs & Therapeutics for Phka1-Related Phosphorylase Kinase Deficiency

Search Clinical Trials , NIH Clinical Center for Phka1-Related Phosphorylase Kinase Deficiency

Genetic Tests for Phka1-Related Phosphorylase Kinase Deficiency

Genetic tests related to Phka1-Related Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phka1-Related Phosphorylase Kinase Deficiency 24 PHKA1

Anatomical Context for Phka1-Related Phosphorylase Kinase Deficiency

Publications for Phka1-Related Phosphorylase Kinase Deficiency

Variations for Phka1-Related Phosphorylase Kinase Deficiency

ClinVar genetic disease variations for Phka1-Related Phosphorylase Kinase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PHKA1 NM_002637.3(PHKA1): c.3334G> T (p.Glu1112Ter) single nucleotide variant Pathogenic rs137852546 GRCh37 Chromosome X, 71802412: 71802412
2 PHKA1 PHKA1, IVSL, G-C, +1 single nucleotide variant Pathogenic
3 PHKA1 NM_002637.3(PHKA1): c.896A> T (p.Asp299Val) single nucleotide variant Pathogenic rs137852547 GRCh37 Chromosome X, 71877460: 71877460
4 PHKA1 PHKA1, 1-BP DEL, 695C deletion Pathogenic
5 PHKA1 NM_002637.3(PHKA1): c.667G> A (p.Gly223Arg) single nucleotide variant Pathogenic rs137852548 GRCh37 Chromosome X, 71887275: 71887275

Expression for Phka1-Related Phosphorylase Kinase Deficiency

Search GEO for disease gene expression data for Phka1-Related Phosphorylase Kinase Deficiency.

Pathways for Phka1-Related Phosphorylase Kinase Deficiency

GO Terms for Phka1-Related Phosphorylase Kinase Deficiency

Sources for Phka1-Related Phosphorylase Kinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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65 SNOMED-CT via Orphanet
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70 UMLS via Orphanet
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