MCID: GLY006
MIFTS: 19

Glycogen Storage Disease Viii

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

Aliases & Classifications for Glycogen Storage Disease Viii

MalaCards integrated aliases for Glycogen Storage Disease Viii:

Name: Glycogen Storage Disease Viii 12 49 14
Glycogen Storage Disease Type Viii 12 72 41 69
Glycogenosis Type Viii 12 72
Hepatic Glycogen Phosphorylase Kinase Deficiency 12
Phosphorylase Kinase Deficiency of Liver 49
Hepatic Phosphorylase Kinase Deficiency 49
Glycogen Storage Disease, Type Ix 69
Glycogen Storage Disease 8 49
Glycogenosis Type 8 49
Pykl 49

Classifications:



External Ids:

Disease Ontology 12 DOID:2751
MeSH 41 D006015
SNOMED-CT 64 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.

Wikipedia : 72 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:

38
Liver

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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