MCID: PHK002
MIFTS: 11

Phka2-Related Phosphorylase Kinase Deficiency malady

Categories: Genetic diseases (common), Liver diseases

Aliases & Classifications for Phka2-Related Phosphorylase Kinase Deficiency

About this section

Aliases & Descriptions for Phka2-Related Phosphorylase Kinase Deficiency:

Name: Phka2-Related Phosphorylase Kinase Deficiency 23
Phka2-Related Glycogen Storage Disease Type Ix 23
Glycogen Storage Disease Type Viii, X-Linked 23
Glycogen Storage Disease Type Ixa 23
 
X-Linked Liver Glycogenosis 23
Gsd Ixa 23
Gsdixa 23

Classifications:



Summaries for Phka2-Related Phosphorylase Kinase Deficiency

About this section
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

About this section

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 212.3
2glycogen storage disease, type ixa111.5
3glycogen storage disease due to liver phosphorylase kinase deficiency11.3
4obesity10.2
5glycogen storage disease10.2

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

About this section

Drugs & Therapeutics for Phka2-Related Phosphorylase Kinase Deficiency

About this section

Interventional clinical trials:

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

Genetic Tests for Phka2-Related Phosphorylase Kinase Deficiency

About this section

Genetic tests related to Phka2-Related Phosphorylase Kinase Deficiency:

id Genetic test Affiliating Genes
1 Phka2-Related Phosphorylase Kinase Deficiency23 PHKA2

Anatomical Context for Phka2-Related Phosphorylase Kinase Deficiency

About this section

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

34
Liver

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

About this section

Publications for Phka2-Related Phosphorylase Kinase Deficiency

About this section

Variations for Phka2-Related Phosphorylase Kinase Deficiency

About this section

Expression for genes affiliated with Phka2-Related Phosphorylase Kinase Deficiency

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

Pathways for genes affiliated with Phka2-Related Phosphorylase Kinase Deficiency

About this section

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

About this section

Sources for Phka2-Related Phosphorylase Kinase Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet