MCID: PHK002
MIFTS: 12

Phka2-Related Phosphorylase Kinase Deficiency malady

Genetic diseases (common), Liver diseases categories

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 phosphorylase kinase deficiency and x-linked liver glycogenosis type 2. 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
1phosphorylase kinase deficiency10.6
2x-linked liver glycogenosis type 210.6
3glycogen storage disease, type ixa110.5
4obesity10.4
5glycogen storage disease10.4
6glycogen storage disease due to liver phosphorylase kinase deficiency10.4
7hepatitis10.3

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