MCID: GLY006
MIFTS: 20

Glycogen Storage Disease Viii

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

Aliases & Classifications for Glycogen Storage Disease Viii

MalaCards integrated aliases for Glycogen Storage Disease Viii:

Name: Glycogen Storage Disease Viii 12 53 15
Glycogen Storage Disease Type Viii 12 76 44 73
Glycogenosis Type Viii 12 76
Hepatic Glycogen Phosphorylase Kinase Deficiency 12
Phosphorylase Kinase Deficiency of Liver 53
Hepatic Phosphorylase Kinase Deficiency 53
Glycogen Storage Disease, Type Ix 73
Glycogen Storage Disease 8 53
Glycogenosis Type 8 53
Pykl 53

Classifications:



External Ids:

Disease Ontology 12 DOID:2751
MeSH 44 D006015
SNOMED-CT 68 297255007 41527003

Summaries for Glycogen Storage Disease Viii

MalaCards based summary : Glycogen Storage Disease Viii, also known as glycogen storage disease type viii, is related to glycogen storage disease ixb and glycogen storage disease ixa1. An important gene associated with Glycogen Storage Disease Viii is PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1). Affiliated tissues include liver and skeletal muscle.

Wikipedia : 76 Glycogen storage disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency... more...

Related Diseases for Glycogen Storage Disease Viii

Symptoms & Phenotypes for Glycogen Storage Disease Viii

Drugs & Therapeutics for Glycogen Storage Disease Viii

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162

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

Anatomical Context for Glycogen Storage Disease Viii

MalaCards organs/tissues related to Glycogen Storage Disease Viii:

41
Liver, Skeletal Muscle

Publications for Glycogen Storage Disease Viii

Articles related to Glycogen Storage Disease Viii:

# Title Authors Year
1
Skeletal muscle glycogen content, structure, and metabolism are normal in rats with hepatic glycogen phosphorylase kinase deficiency. ( 2635861 )
1989

Variations for Glycogen Storage Disease Viii

Expression for Glycogen Storage Disease Viii

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

Pathways for Glycogen Storage Disease Viii

GO Terms for Glycogen Storage Disease Viii

Sources for Glycogen Storage Disease Viii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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