MCID: PHK002
MIFTS: 11

Phka2-Related Phosphorylase Kinase Deficiency malady

Categories: Genetic diseases (common), Liver diseases

Aliases & Classifications for Phka2-Related Phosphorylase Kinase Deficiency

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Aliases & Descriptions for Phka2-Related Phosphorylase Kinase Deficiency:

Name: Phka2-Related Phosphorylase Kinase Deficiency 24
Phka2-Related Glycogen Storage Disease Type Ix 24
Glycogen Storage Disease Type Viii, X-Linked 24
Glycogen Storage Disease Type Ixa 24
 
X-Linked Liver Glycogenosis 24
Gsd Ixa 24
Gsdixa 24

Classifications:



Summaries for Phka2-Related Phosphorylase Kinase Deficiency

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MalaCards based summary: Phka2-Related Phosphorylase Kinase Deficiency, also known as phka2-related glycogen storage disease type ix, is related to x-linked liver glycogenosis type 2 and glycogen storage disease, type ixa1. An important gene associated with Phka2-Related Phosphorylase Kinase Deficiency is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver.

Related Diseases for Phka2-Related Phosphorylase Kinase Deficiency

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Diseases related to Phka2-Related Phosphorylase Kinase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1x-linked liver glycogenosis type 212.2
2glycogen storage disease, type ixa111.7
3glycogen storage disease due to liver phosphorylase kinase deficiency11.2
4obesity10.0
5glycogen storage disease10.0

Graphical network of diseases related to Phka2-Related Phosphorylase Kinase Deficiency:



Diseases related to phka2-related phosphorylase kinase deficiency

Symptoms & Phenotypes for Phka2-Related Phosphorylase Kinase Deficiency

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Drugs & Therapeutics for Phka2-Related Phosphorylase Kinase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Phka2-Related Phosphorylase Kinase Deficiency

Genetic Tests for Phka2-Related Phosphorylase Kinase Deficiency

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Genetic tests related to Phka2-Related Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phka2-Related Phosphorylase Kinase Deficiency24 PHKA2

Anatomical Context for Phka2-Related Phosphorylase Kinase Deficiency

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MalaCards organs/tissues related to Phka2-Related Phosphorylase Kinase Deficiency:

36
Liver

Publications for Phka2-Related Phosphorylase Kinase Deficiency

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Variations for Phka2-Related Phosphorylase Kinase Deficiency

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Expression for genes affiliated with Phka2-Related Phosphorylase Kinase Deficiency

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Search GEO for disease gene expression data for Phka2-Related Phosphorylase Kinase Deficiency.

Pathways for genes affiliated with Phka2-Related Phosphorylase Kinase Deficiency

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GO Terms for genes affiliated with Phka2-Related Phosphorylase Kinase Deficiency

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Sources for Phka2-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