MCID: GLY006
MIFTS: 18

Glycogen Storage Disease Viii malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Cardiovascular 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 10 45 12
Glycogen Storage Disease Type Viii 10 36 65
Hepatic Glycogen Phosphorylase Kinase Deficiency 10
Phosphorylase Kinase Deficiency of Liver 45
Hepatic Phosphorylase Kinase Deficiency 45
Liver Phosphorylase Kinase Deficiency 22
 
Glycogen Storage Disease, Type Ix 65
Glycogen Storage Disease 8 45
Glycogenosis Type Viii 10
Glycogenosis Type 8 45
Pykl 45

Classifications:



External Ids:

Disease Ontology10 DOID:2751
SNOMED-CT59 297255007, 41527003
MeSH36 D006015
UMLS65 C0017927, C0268147

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, Alpha 1 (Muscle)). 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 Solutions7004

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 Deficiency22

Anatomical Context for Glycogen Storage Disease Viii

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MalaCards organs/tissues related to Glycogen Storage Disease Viii:

33
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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet