MCID: GLY006
MIFTS: 20

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 47 13
Glycogen Storage Disease Type Viii 11 38 67
Hepatic Glycogen Phosphorylase Kinase Deficiency 11
Phosphorylase Kinase Deficiency of Liver 47
Hepatic Phosphorylase Kinase Deficiency 47
Liver Phosphorylase Kinase Deficiency 24
 
Glycogen Storage Disease, Type Ix 67
Glycogen Storage Disease 8 47
Glycogenosis Type Viii 11
Glycogenosis Type 8 47
Pykl 47

Classifications:



External Ids:

Disease Ontology11 DOID:2751
SNOMED-CT61 297255007, 41527003
MeSH38 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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Drugs for Glycogen Storage Disease Viii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical Solutions7793

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 Deficiency24

Anatomical Context for Glycogen Storage Disease Viii

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MalaCards organs/tissues related to Glycogen Storage Disease Viii:

35
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet