MCID: GLY006
MIFTS: 19

Glycogen Storage Disease Viii malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Glycogen Storage Disease Viii

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Aliases & Descriptions for Glycogen Storage Disease Viii:

Name: Glycogen Storage Disease Viii 11 46 13
Glycogen Storage Disease Type Viii 11 37 66
Hepatic Glycogen Phosphorylase Kinase Deficiency 11
Phosphorylase Kinase Deficiency of Liver 46
Hepatic Phosphorylase Kinase Deficiency 46
Liver Phosphorylase Kinase Deficiency 23
 
Glycogen Storage Disease, Type Ix 66
Glycogen Storage Disease 8 46
Glycogenosis Type Viii 11
Glycogenosis Type 8 46
Pykl 46

Classifications:



External Ids:

Disease Ontology11 DOID:2751
SNOMED-CT60 297255007, 41527003
MeSH37 D006015

Summaries for Glycogen Storage Disease Viii

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MalaCards based summary: Glycogen Storage Disease Viii, also known as glycogen storage disease type viii, is related to phosphorylase kinase deficiency of liver and muscle, autosomal recessive and glycogen storage disease due to liver phosphorylase kinase deficiency. An important gene associated with Glycogen Storage Disease Viii is PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1). Affiliated tissues include liver.

Related Diseases for Glycogen Storage Disease Viii

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Graphical network of diseases related to Glycogen Storage Disease Viii:



Diseases related to glycogen storage disease viii

Symptoms for Glycogen Storage Disease Viii

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Drugs & Therapeutics for Glycogen Storage Disease Viii

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Biomarker for Glycogen Storage DiseasesRecruitingNCT02385162
2Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

Search NIH Clinical Center for Glycogen Storage Disease Viii


Cochrane evidence based reviews: glycogen storage disease type viii

Genetic Tests for Glycogen Storage Disease Viii

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Genetic tests related to Glycogen Storage Disease Viii:

id Genetic test Affiliating Genes
1 Liver Phosphorylase Kinase Deficiency23

Anatomical Context for Glycogen Storage Disease Viii

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MalaCards organs/tissues related to Glycogen Storage Disease Viii:

34
Liver

Animal Models for Glycogen Storage Disease Viii or affiliated genes

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Publications for Glycogen Storage Disease Viii

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Variations for Glycogen Storage Disease Viii

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Expression for genes affiliated with Glycogen Storage Disease Viii

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Search GEO for disease gene expression data for Glycogen Storage Disease Viii.

Pathways for genes affiliated with Glycogen Storage Disease Viii

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GO Terms for genes affiliated with Glycogen Storage Disease Viii

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Sources for Glycogen Storage Disease Viii

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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