MCID: MSC006
MIFTS: 34

Muscle Glycogenosis malady

Genetic diseases (common) category

Aliases & Classifications for Muscle Glycogenosis

About this section

Muscle Glycogenosis, Aliases & Descriptions:

Name: Muscle Glycogenosis 45 10
Glycogen Storage Disease, Type Ixd 45 60
 
Muscle Phosphorylase Kinase Deficiency 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 300559

Summaries for Muscle Glycogenosis

About this section


OMIM:45 Glycogen storage disease type IXd is an X-linked recessive, relatively mild metabolic disorder characterized by... (300559) more...

MalaCards based summary: Muscle Glycogenosis, also known as glycogen storage disease, type ixd, is related to myopathy and muscular phosphorylase kinase deficiency, and has symptoms including muscle weakness, x-linked recessive inheritance and amyotrophy. 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.

Related Diseases for Muscle Glycogenosis

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1myopathy29.8PYGM, DGUOK, PHKA2
2muscular phosphorylase kinase deficiency10.7
3galactosemia10.7
4mcardle disease10.1
5ischemia10.1
6phosphorylase kinase deficiency10.1
7glycogen storage disease ia9.9PHKA2, NEK3
8glycogen storage disease9.3PYGM, NEK3, PHKA2, PHKA1, PHKB, PHKG1

Graphical network of diseases related to Muscle Glycogenosis:



Diseases related to muscle glycogenosis

Symptoms for Muscle Glycogenosis

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Muscle Glycogenosis

Search NIH Clinical Center for Muscle Glycogenosis

Genetic Tests for Muscle Glycogenosis

About this section

Genetic tests related to Muscle Glycogenosis:

id Genetic test Affiliating Genes
1 Muscle Phosphorylase Kinase Deficiency20

Anatomical Context for Muscle Glycogenosis

About this section

MalaCards organs/tissues related to Muscle Glycogenosis:

31
Skeletal muscle

Animal Models for Muscle Glycogenosis or affiliated genes

About this section

Publications for Muscle Glycogenosis

About this section

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

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

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

Clinvar genetic disease variations for Muscle Glycogenosis:

6
id Gene Variation 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
Search GEO for disease gene expression data for Muscle Glycogenosis.

Pathways for genes affiliated with Muscle Glycogenosis

About this section

Pathways related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

(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 I36
galactose degradation I (Leloir pathway)36
Cori Cycle36
9.8PGM1, PYGM
39.5PHKG1, PHKB
4
Show member pathways
9.4PYGM, PHKA1, PHKG1
5
Show member pathways
Signal transduction cAMP signaling58
9.3PHKG1, PHKA1, PHKA2
68.9PHKG1, PHKB, PHKA1, PHKA2
7
Show member pathways
8.9PHKA2, PHKA1, PHKB, PHKG1
8
Show member pathways
8.6PYGM, PHKA2, PHKA1, PHKB, PHKG1
9
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
8.6PYGM, PHKA2, PHKA1, PHKB, PHKG1
108.3PYGM, PGM1, PHKA2, PHKA1, PHKB, PHKG1
11
Show member pathways
7.5PYGM, PGM1, PHKA2, PHKA1, PHKB, PHKG1
12
Show member pathways
malate-aspartate shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
7.5PHKA1P1, PYGM, PGM1, PHKA2, PHKA1, PHKB
13
Show member pathways
7.1PYGM, PGM1, DGUOK, PHKA2, PHKA1, PHKB

Compounds for genes affiliated with Muscle Glycogenosis

About this section
Sources:
43Novoseek, 24HMDB, 28IUPHAR
See all sources

Compounds related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate43 2410.8PGM1, PYGM
2Glucose 1-phosphate249.7PGM1, PYGM
3glycogen43 2410.1PHKB, PHKA2, NEK3, PYGM
4adp43 28 2410.7NEK3, DGUOK, PHKA2, PHKG1

GO Terms for genes affiliated with Muscle Glycogenosis

About this section

Cellular components related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphorylase kinase complexGO:00059648.9PHKA2, PHKB, PHKG1
2cytosolGO:00058298.0PYGM, PGM1, DGUOK, PHKA2, PHKA1, PHKB

Biological processes related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:00059789.6PHKG1, PGM1
2glycogen metabolic processGO:00059779.5PHKB, PHKA1, PYGM
3generation of precursor metabolites and energyGO:00060919.4PHKA2, PHKA1, PHKB
4protein phosphorylationGO:00064688.9DGUOK, NEK3, PHKA2, PHKA1
5glycogen catabolic processGO:00059808.5PHKB, PHKG1, PHKA1, PHKA2, PGM1, PYGM
6glucose metabolic processGO:00060068.4PHKG1, PHKA1, PHKA2, PGM1, PYGM, PHKB
7carbohydrate metabolic processGO:00059758.4PHKG1, PHKA2, PYGM, PGM1, PHKB, PHKA1
8small molecule metabolic processGO:00442818.0PHKB, PHKA1, PHKA2, DGUOK, PYGM, PGM1

Molecular functions related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.2PHKB, PHKA2, PHKA1
2calmodulin bindingGO:00055168.9PHKG1, PHKB, PHKA1, PHKA2
3phosphorylase kinase activityGO:00046898.8PHKA1, PHKA2, PHKG1, PHKB

Products for genes affiliated with Muscle Glycogenosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Muscle Glycogenosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet