MCID: MSC006
MIFTS: 39

Muscle Glycogenosis malady

Genetic diseases, Neuronal diseases, Rare diseases categories

Summaries for Muscle Glycogenosis

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48OMIM, 34MalaCards
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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 myopathy. An important gene associated with Muscle Glycogenosis is PHKA1 (phosphorylase kinase, alpha 1 (muscle)), and among its related pathways are Glucuronidation and Galactose metabolism. The compounds glucose 6-phosphate and Glucose 1-phosphate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle.

Description from OMIM:48 300559

Aliases & Classifications for Muscle Glycogenosis

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
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 48
glycogen storage disease due to muscle phosphorylase kinase deficiency 50
glycogenosis due to muscle phosphorylase kinase deficiency 50
gsd due to muscle phosphorylase kinase deficiency 50
glycogen storage disease, type ixd 63
glycogen storage disease type ixe 50
glycogen storage disease type ixd 50
glycogen storage disease type 9d 50
glycogen storage disease type 9e 50
glycogen storage disease 63
glycogenosis type ixd 50
glycogenosis type ixe 50
glycogenosis type 9d 50
glycogenosis type 9e 50
gsd type ixe 50
gsd type ixd 50
gsd type 9e 50
gsd type 9d 50


External Ids:

OMIM48 300559
ICD10 via Orphanet27 E74.0
SNOMED-CT via Orphanet60 40191005

Related Diseases for Muscle Glycogenosis

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Muscle Glycogenosis:



Diseases related to muscle glycogenosis

Symptoms for Muscle Glycogenosis

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48OMIM
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Symptoms by clinical synopsis from OMIM:

300559

Clinical features from OMIM:

300559

Drugs & Therapeutics for Muscle Glycogenosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Muscle Glycogenosis

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34MalaCards
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MalaCards organs/tissues related to Muscle Glycogenosis:

34
Skeletal muscle

Animal Models for Muscle Glycogenosis or affiliated genes

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Publications for Muscle Glycogenosis

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53PubMed
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Articles related to Muscle Glycogenosis:

(show all 18)
idTitleAuthorsYear
1
Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. (19696889)
2009
2
Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (19625727)
2009
3
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. (18358695)
2008
4
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. (14568816)
2003
5
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (12825073)
2003
6
Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency. (10832587)
2000
7
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. (8941265)
1996
8
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. (7874115)
1994
9
Muscle glycogenosis. (2122112)
1990
10
Genetic aspects of muscle glycogenosis. (2500668)
1989
11
Persistent elevation of transaminases as the presenting finding in an adolescent with an unsuspected muscle glycogenosis. (3478168)
1987
12
The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study. (172619)
1975
13
Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case. (4112649)
1972
14
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
15
Muscle glycogenosis. (4226180)
1966
16
Glycogenic myopathy. A case of skeletal muscle-glycogenosis in twins. (4232619)
1965
17
SKELETAL MUSCLE GLYCOGENOSIS IN INDENTICAL TWINS. (14173855)
1964
18
Skeletal muscle glycogenosis: an investigation of two dissimilar cases. (13981250)
1963

Variations for Muscle Glycogenosis

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Muscle Glycogenosis:

65
id Symbol AA change Variation ID SNP ID
1PHKA1p.Asp299ValVAR_020856

Clinvar genetic disease variations for Muscle Glycogenosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1PHKA1NM_002637.3(PHKA1): c.3334G> T (p.Glu1112Ter)single nucleotide variantPathogenicrs137852546GRCh37Chr X, 71802412: 71802412
2PHKA1PHKA1, IVSL, G-C, +1single nucleotide variantPathogenic
3PHKA1NM_002637.3(PHKA1): c.896A> T (p.Asp299Val)single nucleotide variantPathogenicrs137852547GRCh37Chr X, 71877460: 71877460
4PHKA1PHKA1, 1-BP DEL, 695CdeletionPathogenic
5PHKA1NM_002637.3(PHKA1): c.667G> A (p.Gly223Arg)single nucleotide variantPathogenicrs137852548GRCh37Chr X, 71887275: 71887275

Expression for genes affiliated with Muscle Glycogenosis

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN
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Pathways related to Muscle Glycogenosis according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8PGM1, PYGM
2
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I39
galactose degradation I (Leloir pathway)39
Cori Cycle39
9.8PGM1, PYGM
39.7PHKG1, PHKB
4
Show member pathways
9.6PYGM, PHKA1, PHKG1
5
Show member pathways
Signal transduction cAMP signaling61
9.6PHKG1, PHKA1, PHKA2
69.1PHKG1, PHKB, PHKA1, PHKA2
7
Show member pathways
9.1PHKA2, PHKA1, PHKB, PHKG1
8
Show member pathways
8.8PYGM, PHKA2, PHKA1, PHKB, PHKG1
9
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
8.8PYGM, PHKA2, PHKA1, PHKB, PHKG1
108.4PYGM, PGM1, PHKA2, PHKA1, PHKB, PHKG1
11
Show member pathways
malate-aspartate shuttle39
glycogen biosynthesis II (from UDP-D-Glucose)39
7.9PHKA1P1, PYGM, PGM1, PHKA2, PHKA1, PHKB
12
Show member pathways
7.9PYGM, PGM1, PHKA2, PHKA1, PHKB, PHKG1
13
Show member pathways
7.5PYGM, PGM1, DGUOK, PHKA2, PHKA1, PHKB

Compounds for genes affiliated with Muscle Glycogenosis

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46Novoseek, 25HMDB, 30IUPHAR
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Compounds related to Muscle Glycogenosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate46 2510.8PGM1, PYGM
2Glucose 1-phosphate259.7PGM1, PYGM
3glycogen46 2510.0PHKB, PHKA2, NEK3, PYGM
4adp46 30 2510.9NEK3, DGUOK, PHKA2, PHKG1

GO Terms for genes affiliated with Muscle Glycogenosis

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17Gene Ontology
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Cellular components related to Muscle Glycogenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase complexGO:0059649.1PHKG1, PHKB, PHKA2
2cytosolGO:0058298.0PGM1, DGUOK, PHKA2, PHKA1, PHKB, PHKG1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:0059789.8PHKG1, PGM1
2glycogen metabolic processGO:0059779.5PHKB, PHKA1, PYGM
3generation of precursor metabolites and energyGO:0060919.3PHKA2, PHKA1, PHKB
4protein phosphorylationGO:0064688.9PHKA1, PHKA2, DGUOK, NEK3
5glycogen catabolic processGO:0059808.6PHKG1, PHKB, PHKA1, PHKA2, PGM1, PYGM
6glucose metabolic processGO:0060068.5PYGM, PGM1, PHKA2, PHKA1, PHKB, PHKG1
7carbohydrate metabolic processGO:0059758.5PYGM, PGM1, PHKA2, PHKA1, PHKB, PHKG1
8small molecule metabolic processGO:0442818.1PYGM, PGM1, DGUOK, PHKA2, PHKA1, PHKB

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

idNameGO IDScoreTop Affiliating Genes
1calmodulin bindingGO:0055169.1PHKG1, PHKB, PHKA1, PHKA2
2hydrolase activity, hydrolyzing O-glycosyl compoundsGO:0045539.1PHKA2, PHKA1, PHKB
3phosphorylase kinase activityGO:0046899.0PHKG1, PHKB, 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet