MCID: MSC006
MIFTS: 36

Muscle Glycogenosis malady

Neuronal diseases, Metabolic diseases categories

Summaries for Muscle Glycogenosis

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46OMIM, 32MalaCards
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MalaCards: Muscle Glycogenosis, also known as glycogen storage disease due to muscle phosphorylase kinase deficiency, is related to glycogen storage disease and glycogen storage disease type 1a. An important gene associated with Muscle Glycogenosis is PHKA1 (phosphorylase kinase, alpha 1 (muscle)), and among its related pathways are Galactose metabolism and Signal transduction PKA signaling. The compounds adp and glycogen have been mentioned in the context of this disorder.

Description from OMIM:46 300559

Aliases & Classifications for Muscle Glycogenosis

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60UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
glycogen storage disease due to muscle phosphorylase kinase deficiency:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

muscle glycogenosis 46
glycogen storage disease due to muscle phosphorylase kinase deficiency 48
glycogenosis due to muscle phosphorylase kinase deficiency 48
gsd due to muscle phosphorylase kinase deficiency 48
glycogen storage disease, type ixd 60
glycogen storage disease type ixd 48
glycogen storage disease type ixe 48
glycogen storage disease type 9d 48
glycogen storage disease type 9e 48
glycogen storage disease 60
glycogenosis type ixd 48
glycogenosis type ixe 48
glycogenosis type 9d 48
glycogenosis type 9e 48
gsd type ixe 48
gsd type ixd 48
gsd type 9e 48
gsd type 9d 48


External Ids:

OMIM46 300559
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet57 40191005

Related Diseases for Muscle Glycogenosis

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17GeneCards, 18GeneDecks
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Diseases related to Muscle Glycogenosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease32.2PYGM, PHKA1, PHKA2, PHKB, PHKG1, NEK3
2glycogen storage disease type 1a31.2NEK3, PHKA2
3hypoglycemia30.9NEK3
4myopathy30.0PYGM, DGUOK, PHKA2
5glycogen storage disease ii11.1
6glycogen storage disease iv11.1
7glycogen storage disease i11.1
8glycogen storage disease iii11.1
9glycogen storage disease v10.9
10liver disease10.9
11glycogen storage disease vi10.9
12hepatitis10.9
13glycogen storage disease type 010.8
14adenoma10.8
15lysosomal storage disease10.7
16glycogen storage disease vii10.7
17glycogen storage disease type 1310.7
18danon disease10.6
19glycogen storage disease xv10.6
20hepatitis a10.6
21hepatocellular carcinoma10.6
22neutropenia10.6
23fanconi bickel syndrome10.6
24glycogen storage disease ix10.6
25glycogen storage disease type 1210.6
26glycogen storage disease type 0, muscle10.6
27glycogen storage disease, type ixa110.6
28glycogen storage disease due to phosphorylase kinase deficiency10.6
29glycogen storage disease viii10.6
30phosphoglycerate mutase deficiency10.6
31glycogen storage disease iiia10.6
32phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
33chromosomal disease10.5
34kidney disease10.5
35neuromuscular disease10.5
36glycogen storage disease type 1b10.5
37lethal congenital glycogen storage disease of the heart10.5
38glycogen storage disease due to acid maltase deficiency, adult onset10.5
39hypertrophic cardiomyopathy10.5
40atherosclerosis10.5
41lipid storage disease10.5
42juvenile hereditary hemochromatosis10.5
43glycogen storage disease xii10.5
44glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
45glycogen storage disease due to acid maltase deficiency, infantile onset10.5
46nephrolithiasis10.4
47brain disease10.4
48hypertension10.4
49inflammatory bowel disease10.4
50gout10.3

Graphical network of the top 20 diseases related to Muscle Glycogenosis:



Diseases related to muscle glycogenosis

Clinical Features for Muscle Glycogenosis

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46OMIM
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Clinical features from OMIM:

300559

Clinical synopsis from OMIM:

300559

Drugs & Therapeutics for Muscle Glycogenosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Muscle Glycogenosis

Drug clinical trials:

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Search NIH Clinical Center for Muscle Glycogenosis

Search CenterWatch for Muscle Glycogenosis

Genetic Tests for Muscle Glycogenosis

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Anatomical Context for Muscle Glycogenosis

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Animal Models for Muscle Glycogenosis or affiliated genes

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Publications for Muscle Glycogenosis

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Genetic Variations for Muscle Glycogenosis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Muscle Glycogenosis:

62
id Symbol AA change Variation ID SNP ID
1PHKA1p.Asp299ValVAR_020856

Expression for genes affiliated with Muscle Glycogenosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscle Glycogenosis

Search GEO for disease gene expression data for Muscle Glycogenosis.

Pathways for genes affiliated with Muscle Glycogenosis

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Sources:
29KEGG, 12EMD Millipore, 53Reactome, 51QIAGEN, 37NCBI BioSystems Database
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Compounds for genes affiliated with Muscle Glycogenosis

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44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Muscle Glycogenosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adp44 28 2411.2NEK3, PHKG1, PHKA2, DGUOK
2glycogen44 249.7NEK3, PHKB, PHKA2, PYGM

GO Terms for genes affiliated with Muscle Glycogenosis

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16Gene Ontology
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Cellular components related to Muscle Glycogenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase complexGO:0059649.5PHKG1, PHKA2
2cytosolGO:0058298.0PGM1, PHKG1, PHKB, PHKA2, PHKA1, DGUOK

Biological processes related to Muscle Glycogenosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:0059789.8PGM1, PHKG1
2glycogen metabolic processGO:0059779.5PHKB, PHKA1, PYGM
3generation of precursor metabolites and energyGO:0060919.1PHKA1, PHKA2, PHKB
4glycogen catabolic processGO:0059808.5PYGM, PGM1, PHKB, PHKA2, PHKA1, PHKG1
5glucose metabolic processGO:0060068.5PHKG1, PHKB, PHKA2, PHKA1, PYGM, PGM1
6carbohydrate metabolic processGO:0059758.5PGM1, PHKA2, PHKG1, PHKB, PHKA1, PYGM
7small molecule metabolic processGO:0442817.9PHKB, PGM1, PHKA2, PHKA1, PYGM, DGUOK

Molecular functions related to Muscle Glycogenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase activityGO:0046899.5PHKA1, PHKA2, PHKG1
2calmodulin bindingGO:0055169.1PHKG1, PHKB, PHKA2, PHKA1
3hydrolase activity, hydrolyzing O-glycosyl compoundsGO:0045539.1PHKB, PHKA1, PHKA2

Products for genes affiliated with Muscle Glycogenosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscle Glycogenosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet