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 48 13
Glycogen Storage Disease Type Viii 11 39 68
Hepatic Glycogen Phosphorylase Kinase Deficiency 11
Phosphorylase Kinase Deficiency of Liver 48
Hepatic Phosphorylase Kinase Deficiency 48
Liver Phosphorylase Kinase Deficiency 24
 
Glycogen Storage Disease, Type Ix 68
Glycogen Storage Disease 8 48
Glycogenosis Type Viii 11
Glycogenosis Type 8 48
Pykl 48

Classifications:



External Ids:

Disease Ontology11 DOID:2751
SNOMED-CT62 297255007, 41527003
MeSH39 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 & Phenotypes 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:

36
Liver

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet