MCID: PHK002
MIFTS: 10

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 22
Phka2-Related Glycogen Storage Disease Type Ix 22
Glycogen Storage Disease Type Viii, X-Linked 22
Glycogen Storage Disease Type Ixa 22
 
X-Linked Liver Glycogenosis 22
Gsd Ixa 22
Gsdixa 22

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, Alpha 2 (Liver)). 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 212.7
2glycogen storage disease, type ixa111.9
3glycogen storage disease due to liver phosphorylase kinase deficiency11.7
4leukemia10.4
5gastritis10.3
6atrophic gastritis10.3

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



Diseases related to phka2-related phosphorylase kinase deficiency

Symptoms 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 Deficiency22 PHKA2

Anatomical Context for Phka2-Related Phosphorylase Kinase Deficiency

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

33
Liver

Animal Models for Phka2-Related Phosphorylase Kinase Deficiency or affiliated genes

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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
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