MCID: MSC006
MIFTS: 41

Muscle Glycogenosis malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Muscle Glycogenosis

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Genetics Home Reference:21 Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.

MalaCards based summary: Muscle Glycogenosis, also known as glycogen storage disease due to muscle phosphorylase kinase deficiency, is related to glycogen storage disease and myopathy, and has symptoms including 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 liver and skeletal muscle.

Description from OMIM:46 300559

Aliases & Classifications for Muscle Glycogenosis

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Muscle Glycogenosis, Aliases & Descriptions:

Name: 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 62
Glycogen Storage Disease Type Ixe 48
Glycogen Storage Disease Type Ixd 48
Glycogen Storage Disease Type 9d 48
Glycogen Storage Disease Type 9e 48
 
Glycogen Storage Disease 62
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


Classifications:



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


External Ids:

OMIM46 300559
ICD10 via Orphanet26 E74.0

Related Diseases for Muscle Glycogenosis

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

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease30.0PHKG1, PHKB, PHKA1, PHKA2, NEK3, PYGM
2myopathy29.8PHKA2, DGUOK, PYGM
3hepatitis10.4
4glycogen storage disease viii10.4
5hypoglycemia10.4
6glycogen storage disease, type ixa110.4
7hypertrophic cardiomyopathy10.3
8ischemia10.1
9phosphorylase kinase deficiency10.1
10glycogen storage disease type 1a9.9NEK3, PHKA2

Graphical network of diseases related to Muscle Glycogenosis:



Diseases related to muscle glycogenosis

Symptoms for Muscle Glycogenosis

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Symptoms by clinical synopsis from OMIM:

300559

Clinical features from OMIM:

300559

HPO human phenotypes related to Muscle Glycogenosis:

(show all 8)
id Description Frequency HPO Source Accession
1 muscle weakness HP:0001324
2 x-linked recessive inheritance HP:0001419
3 amyotrophy HP:0003202
4 elevated serum creatine phosphokinase HP:0003236
5 exercise intolerance HP:0003546
6 exercise-induced myalgia HP:0003738
7 exercise-induced myoglobinuria HP:0008305
8 exercise-induced muscle stiffness HP:0008967

Drugs & Therapeutics for Muscle Glycogenosis

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Drug clinical trials:

Search ClinicalTrials for Muscle Glycogenosis

Search NIH Clinical Center for Muscle Glycogenosis

Genetic Tests for Muscle Glycogenosis

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Anatomical Context for Muscle Glycogenosis

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MalaCards organs/tissues related to Muscle Glycogenosis:

32
Liver, Skeletal muscle

Animal Models for Muscle Glycogenosis or affiliated genes

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Publications for Muscle Glycogenosis

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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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UniProtKB/Swiss-Prot genetic disease variations for Muscle Glycogenosis:

64
id Symbol AA change Variation ID SNP ID
1PHKA1p.Asp299ValVAR_020856

Clinvar genetic disease variations for Muscle Glycogenosis:

6
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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Expression patterns in normal tissues for genes affiliated with Muscle Glycogenosis

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Pathways for genes affiliated with Muscle Glycogenosis

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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 I37
galactose degradation I (Leloir pathway)37
Cori Cycle37
9.8PGM1, PYGM
39.7PHKG1, PHKB
4
Show member pathways
9.6PYGM, PHKA1, PHKG1
5
Show member pathways
Signal transduction cAMP signaling60
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 regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.8PYGM, PHKA2, PHKA1, PHKB, PHKG1
108.4PYGM, PGM1, PHKA2, PHKA1, PHKB, PHKG1
11
Show member pathways
malate-aspartate shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
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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Sources:
44Novoseek, 24HMDB, 28IUPHAR
See all sources

Compounds related to Muscle Glycogenosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate44 2410.8PGM1, PYGM
2Glucose 1-phosphate249.7PGM1, PYGM
3glycogen44 2410.0PHKB, PHKA2, NEK3, PYGM
4adp44 28 2410.9NEK3, DGUOK, PHKA2, PHKG1

GO Terms for genes affiliated with Muscle Glycogenosis

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet