MCID: PHK001

Phka1-Related Phosphorylase Kinase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Phka1-Related Phosphorylase Kinase Deficiency

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Aliases & Descriptions for Phka1-Related Phosphorylase Kinase Deficiency:

Name: Phka1-Related Phosphorylase Kinase Deficiency 22
Phka1-Related Glycogen Storage Disease Type Ix 22
 
Glycogen Storage Disease Type Ixd 22

Classifications:



Summaries for Phka1-Related Phosphorylase Kinase Deficiency

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

Related Diseases for Phka1-Related Phosphorylase Kinase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1muscle glycogenosis12.0
2glycogen storage disease due to muscle phosphorylase kinase deficiency11.7

Symptoms for Phka1-Related Phosphorylase Kinase Deficiency

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Drugs & Therapeutics for Phka1-Related Phosphorylase Kinase Deficiency

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Interventional clinical trials:

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

Genetic Tests for Phka1-Related Phosphorylase Kinase Deficiency

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Genetic tests related to Phka1-Related Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phka1-Related Phosphorylase Kinase Deficiency22 PHKA1

Anatomical Context for Phka1-Related Phosphorylase Kinase Deficiency

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Animal Models for Phka1-Related Phosphorylase Kinase Deficiency or affiliated genes

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Publications for Phka1-Related Phosphorylase Kinase Deficiency

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Variations for Phka1-Related Phosphorylase Kinase Deficiency

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Expression for genes affiliated with Phka1-Related Phosphorylase Kinase Deficiency

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

Pathways for genes affiliated with Phka1-Related Phosphorylase Kinase Deficiency

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GO Terms for genes affiliated with Phka1-Related Phosphorylase Kinase Deficiency

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Sources for Phka1-Related Phosphorylase Kinase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet