MCID: MSC006
MIFTS: 39

Muscle Glycogenosis malady

Genetic diseases, Neuronal diseases, Rare diseases categories
Download this MalaCard

Summaries for Muscle Glycogenosis

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 300559

Aliases & Classifications for Muscle Glycogenosis

About this section
Sources:
47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
See all sources

Classifications:

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


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 62
glycogen storage disease type ixe 49
glycogen storage disease type ixd 49
glycogen storage disease type 9d 49
glycogen storage disease type 9e 49
glycogen storage disease 62
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
SNOMED-CT via Orphanet59 40191005

Related Diseases for Muscle Glycogenosis

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Muscle Glycogenosis:



Diseases related to muscle glycogenosis

Symptoms for Muscle Glycogenosis

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

300559

Clinical features from OMIM:

300559

Drugs & Therapeutics for Muscle Glycogenosis

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Muscle Glycogenosis

Search NIH Clinical Center for Muscle Glycogenosis

Genetic Tests for Muscle Glycogenosis

About this section

Anatomical Context for Muscle Glycogenosis

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Muscle Glycogenosis:

33
Skeletal muscle

Animal Models for Muscle Glycogenosis or affiliated genes

About this section

Publications for Muscle Glycogenosis

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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:

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN
See all sources

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 I38
galactose degradation I (Leloir pathway)38
Cori Cycle38
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 events38
ErbB2/ErbB3 signaling events38
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 shuttle38
glycogen biosynthesis II (from UDP-D-Glucose)38
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

About this section
Sources:
45Novoseek, 24HMDB, 29IUPHAR
See all sources

Compounds related to Muscle Glycogenosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate45 2410.8PGM1, PYGM
2Glucose 1-phosphate249.7PGM1, PYGM
3glycogen45 2410.0PHKB, PHKA2, NEK3, PYGM
4adp45 29 2410.9NEK3, DGUOK, PHKA2, PHKG1

GO Terms for genes affiliated with Muscle Glycogenosis

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscle Glycogenosis

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet