PYKL
MCID: GLY006
MIFTS: 19

Glycogen Storage Disease Viii (PYKL) malady

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

Aliases & Classifications for Glycogen Storage Disease Viii

Aliases & Descriptions for Glycogen Storage Disease Viii:

Name: Glycogen Storage Disease Viii 12 50 14
Glycogen Storage Disease Type Viii 12 42 69
Hepatic Glycogen Phosphorylase Kinase Deficiency 12
Phosphorylase Kinase Deficiency of Liver 50
Hepatic Phosphorylase Kinase Deficiency 50
Liver Phosphorylase Kinase Deficiency 24
Glycogen Storage Disease, Type Ix 69
Glycogen Storage Disease 8 50
Glycogenosis Type Viii 12
Glycogenosis Type 8 50
Pykl 50

Classifications:



External Ids:

Disease Ontology 12 DOID:2751
MeSH 42 D006015
SNOMED-CT 64 297255007 41527003
UMLS 69 C0017927

Summaries for Glycogen Storage Disease Viii

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). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include liver.

Related Diseases for Glycogen Storage Disease Viii

Graphical network of the top 20 diseases related to Glycogen Storage Disease Viii:



Diseases related to Glycogen Storage Disease Viii

Symptoms & Phenotypes for Glycogen Storage Disease Viii

Drugs & Therapeutics for Glycogen Storage Disease Viii

Drugs for Glycogen Storage Disease Viii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions

Interventional clinical trials:


id Name Status NCT ID Phase
1 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
2 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269

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

Genetic tests related to Glycogen Storage Disease Viii:

id Genetic test Affiliating Genes
1 Liver Phosphorylase Kinase Deficiency 24

Anatomical Context for Glycogen Storage Disease Viii

MalaCards organs/tissues related to Glycogen Storage Disease Viii:

39
Liver

Publications for Glycogen Storage Disease Viii

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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