MCID: PHK002
MIFTS: 10

Phka2-Related Phosphorylase Kinase Deficiency malady

Categories: Genetic diseases, Liver diseases

Aliases & Classifications for Phka2-Related Phosphorylase Kinase Deficiency

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

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

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

id Related Disease Score Top Affiliating Genes
1 x-linked liver glycogenosis type 2 12.2
2 glycogen storage disease, type ixa1 11.7
3 glycogen storage disease ixa 11.2
4 glycogen storage disease due to liver phosphorylase kinase deficiency 11.2
5 obesity 10.0
6 glycogen storage disease 10.0

Graphical network of the top 20 diseases related to Phka2-Related Phosphorylase Kinase Deficiency:



Diseases related to Phka2-Related Phosphorylase Kinase Deficiency

Symptoms & Phenotypes for Phka2-Related Phosphorylase Kinase Deficiency

Drugs & Therapeutics for Phka2-Related Phosphorylase Kinase Deficiency

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

Genetic Tests for Phka2-Related Phosphorylase Kinase Deficiency

Genetic tests related to Phka2-Related Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phka2-Related Phosphorylase Kinase Deficiency 24 PHKA2

Anatomical Context for Phka2-Related Phosphorylase Kinase Deficiency

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

39
Liver

Publications for Phka2-Related Phosphorylase Kinase Deficiency

Variations for Phka2-Related Phosphorylase Kinase Deficiency

Expression for Phka2-Related Phosphorylase Kinase Deficiency

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

Pathways for Phka2-Related Phosphorylase Kinase Deficiency

GO Terms for Phka2-Related Phosphorylase Kinase Deficiency

Sources for Phka2-Related Phosphorylase Kinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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