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 24
Phka1-Related Glycogen Storage Disease Type Ix 24
 
Glycogen Storage Disease Type Ixd 24

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. 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

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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 glycogenosis11.9

Symptoms & Phenotypes 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 Deficiency24 PHKA1

Anatomical Context for Phka1-Related Phosphorylase Kinase Deficiency

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1PHKA1NM_002637.3(PHKA1): c.3334G> T (p.Glu1112Ter)SNVPathogenicrs137852546GRCh37Chr X, 71802412: 71802412
2PHKA1PHKA1, IVSL, G-C, +1SNVPathogenicChr na, -1: -1
3PHKA1NM_002637.3(PHKA1): c.896A> T (p.Asp299Val)SNVPathogenicrs137852547GRCh37Chr X, 71877460: 71877460
4PHKA1PHKA1, 1-BP DEL, 695CdeletionPathogenicChr na, -1: -1
5PHKA1NM_002637.3(PHKA1): c.667G> A (p.Gly223Arg)SNVPathogenicrs137852548GRCh37Chr X, 71887275: 71887275

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet