MCID: MSC006
MIFTS: 39

Muscle Glycogenosis malady

Neuronal, Metabolic categories

Summaries for Muscle Glycogenosis

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47OMIM, 33MalaCards
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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 type 1a and hypoglycemia. 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. Affiliated tissues include spinal cord, skeletal muscle and liver.

Description from OMIM:47 300559

Aliases & Classifications for Muscle Glycogenosis

Sources:
61UMLS, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
glycogen storage disease due to muscle phosphorylase kinase deficiency 49
glycogenosis due to muscle phosphorylase kinase deficiency 49
gsd due to muscle phosphorylase kinase deficiency 49
glycogen storage disease, type ixd 61
glycogen storage disease type ixd 49
glycogen storage disease type ixe 49
glycogen storage disease type 9d 49
glycogen storage disease type 9e 49
glycogen storage disease 61
glycogenosis type ixd 49
glycogenosis type ixe 49
glycogenosis type 9d 49
glycogenosis type 9e 49
gsd type ixe 49
gsd type ixd 49
gsd type 9e 49
gsd type 9d 49


External Ids:

OMIM47 300559
ICD10 via Orphanet26 E74.0

Related Diseases for Muscle Glycogenosis

Sources:
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 119)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease type 1a31.3PHKA2, NEK3
2hypoglycemia30.9NEK3
3glycogen storage disease i11.3
4glycogen storage disease v11.1
5glycogen storage disease iv11.0
6glycogen storage disease vi11.0
7glycogen storage disease ii11.0
8glycogen storage disease iii11.0
9adenoma10.9
10glycogen storage disease iiia10.8
11glycogen storage disease type 010.7
12glycogen storage disease vii10.7
13hepatocellular adenoma10.7
14danon disease10.7
15glycogen storage disease type 1310.7
16glycogen storage disease xv10.7
17fanconi bickel syndrome10.7
18phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.7
19glycogen storage disease type 0, muscle10.6
20lip disease10.6
21glycogen storage disease viii10.6
22glycogen storage disease type 1210.6
23glycogen storage disease, type ixa110.6
24phosphoglycerate mutase deficiency10.6
25glycogen storage disease type 1b10.5
26lethal congenital glycogen storage disease of the heart10.5
27gout10.5
28crohn's disease10.5
29hypertrophic cardiomyopathy10.5
30atherosclerosis10.5
31glycogen storage disease due to acid maltase deficiency, adult onset10.5
32nephrolithiasis10.4
33brain disease10.4
34juvenile hereditary hemochromatosis10.4
35glycogen storage disease xii10.4
36nutrition disease10.4
37glycogen storage disease due to acid maltase deficiency, juvenile onset10.4
38glycogen storage disease due to acid maltase deficiency, infantile onset10.4
39fanconi syndrome10.4
40dent's disease10.4
41glycogen storage disease type 1410.4
42glycogen storage disease iiib10.4
43glycogen storage disease ic10.4
44glycogen storage disease ixc10.4
45niemann-pick disease10.3
46biliary atresia10.3
47glycogen storage disease ix10.3
48biotin deficiency10.3
49pick's disease10.3
50n syndrome10.3

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



Diseases related to muscle glycogenosis

Clinical Features for Muscle Glycogenosis

Sources:
47OMIM
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Clinical features from OMIM:

300559

Clinical synopsis from OMIM:

300559

Drugs & Therapeutics for Muscle Glycogenosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Muscle Glycogenosis

Drug clinical trials:

Search ClinicalTrials for Muscle Glycogenosis

Search NIH Clinical Center for Muscle Glycogenosis

Search CenterWatch for Muscle Glycogenosis

Genetic Tests for Muscle Glycogenosis

Anatomical Context for Muscle Glycogenosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Muscle Glycogenosis:

33
Spinal cord, Skeletal muscle, Liver, Skin, Fetal liver

Animal Models for Muscle Glycogenosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Muscle Glycogenosis

Sources:
51PubMed
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Articles related to Muscle Glycogenosis:

(show all 29)
idTitleAuthorsYear
1
Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II. (23180563)
2013
2
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. (20833045)
2010
3
Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. (19696889)
2009
4
Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (19625727)
2009
5
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. (18358695)
2008
6
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene. (18661138)
2008
7
Correction of glycogenosis type 2 by muscle-specific lentiviral vector. (18810562)
2008
8
Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity. (18176891)
2007
9
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. (14568816)
2003
10
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (12825073)
2003
11
Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease)]. (11596390)
2001
12
Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency. (10832587)
2000
13
Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle. (10382906)
1999
14
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). (9215682)
1997
15
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. (8941265)
1996
16
Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. (8659544)
1996
17
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. (7874115)
1994
18
Low glucose-1, 6-bisphosphate and high fructose-2, 6-bisphosphate concentrations in muscles of patients with glycogenosis types VII and V. (2018547)
1991
19
Muscle glycogenosis. (2122112)
1990
20
Genetic aspects of muscle glycogenosis. (2500668)
1989
21
Persistent elevation of transaminases as the presenting finding in an adolescent with an unsuspected muscle glycogenosis. (3478168)
1987
22
Glycogenosis due to liver and muscle phosphorylase kinase deficiency. (6938920)
1981
23
The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study. (172619)
1975
24
Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case. (4112649)
1972
25
Activities of glycogen synthetase and UDPG-pyrophosphorylase in muscle of a patient with a new type of muscle glycogenosis caused by phosphofructokinase deficiency. (21090428)
1966
26
Muscle glycogenosis. (4226180)
1966
27
Glycogenic myopathy. A case of skeletal muscle-glycogenosis in twins. (4232619)
1965
28
SKELETAL MUSCLE GLYCOGENOSIS IN INDENTICAL TWINS. (14173855)
1964
29
Skeletal muscle glycogenosis: an investigation of two dissimilar cases. (13981250)
1963

Genetic Variations for Muscle Glycogenosis

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Muscle Glycogenosis:

63
id Symbol AA change Variation SNP ID
1PHKA1p.Asp299ValVAR_020856

Expression for genes affiliated with Muscle Glycogenosis

Sources:
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

Sources:
30KEGG, 12EMD Millipore, 54Reactome, 52QIAGEN, 38NCBI BioSystems Database
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Compounds for genes affiliated with Muscle Glycogenosis

Sources:
45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Muscle Glycogenosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adp45 29 2411.2NEK3, PHKG1, PHKA2, DGUOK
2glycogen45 249.7NEK3, PHKB, PHKA2, PYGM

GO Terms for genes affiliated with Muscle Glycogenosis

Sources:
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:0060919.1PHKB, PHKA2, PHKA1
4glycogen catabolic processGO:0059808.5PGM1, PHKG1, PHKB, PHKA2, PHKA1, PYGM
5glucose metabolic processGO:0060068.5PYGM, PHKA1, PHKA2, PHKB, PHKG1, PGM1
6carbohydrate metabolic processGO:0059758.5PYGM, PHKA1, PHKA2, PHKB, PHKG1, PGM1
7small molecule metabolic processGO:0442817.9PYGM, DGUOK, PHKA1, PHKA2, PHKB, PHKG1

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

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

Products for genes affiliated with Muscle Glycogenosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscle Glycogenosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet