Muscle Glycogenosis malady

MalaCards: Muscle Glycogenosis, also known as glycogen storage disease, is related to glycogen storage disease and glycogen storage disease i. An important gene associated with Muscle Glycogenosis is PHKA1 (phosphorylase kinase, alpha 1 (muscle)), and among its related pathways are Development Beta-adrenergic receptors signaling via cAMP and Glycogen metabolism. The compounds adp and glycogen have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle.

OMIM: 300559

muscle glycogenosis 7 33 glycogen storage disease 43

Diseases related to muscle glycogenosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 75)

id	Related Disease	Score	Top Affiliating Genes
1	glycogen storage disease	36.7	PHKA2, PHKB, PHKG1, PGM1, NEK3, PHKA1
2	glycogen storage disease i	34.7	NEK3, PHKA2
3	hypoglycemia	31.1	PYGM, PHKB, NEK3, DGUOK
4	myopathy	27.3	PHKA2, PYGM, NEK3, PGM1, DGUOK
5	cramps	12.8	PHKA1, PYGM
6	fanconi syndrome	12.1	NEK3, PHKA2
7	glycogen storage disease type ia	11.8
8	glycogen storage disease type 1a	11.5
9	glycogen storage disease vi	11.1
10	glycogen storage disease v	11.1
11	glycogen storage disease type 1b	10.9
12	bilirubin metabolic disorder	10.9	PYGM, PGM1, PHKB, PHKA2, PHKA1
13	glycogen storage disease ii	10.8
14	glycogen storage disease iii	10.6
15	glycogen storage disease iv	10.3
16	hepatitis	10.3
17	glycogen storage disease type 0	10.2
18	glycogen storage disease ix	10.1
19	danon disease	10.0
20	glycogen storage disease vii	9.9
21	glycogen storage disease viii	9.8
22	glycogen storage disease type 13	9.6
23	fanconi-bickel syndrome	9.3
24	glycogen storage disease type 0, muscle	9.3
25	glycogen storage disease type 12	9.3
26	neutropenia	9.3
27	phka2-related phosphorylase kinase deficiency	9.3
28	adenoma	9.1
29	cardiomyopathy	9.1
30	glycogen storage disease ib	9.1
31	glycogen storage disease xv	8.9
32	phkg2-related phosphorylase kinase deficiency	8.9
33	phosphoglycerate mutase deficiency	8.9
34	glycogen storage disease ic	8.6
35	glycogen storage disease iiia	8.6
36	glycogen storage disease iiib	8.6
37	glycogen storage disease of heart, lethal congenital	8.6
38	phka1-related phosphorylase kinase deficiency	8.6
39	phkb-related phosphorylase kinase deficiency	8.6
40	glycogen storage disease type 14	8.2
41	glycogen storage disease type 6, due to phosphorylation	8.2
42	glycogen storage disease, type ixa1	8.2
43	glycogen storage disease, type ixa2	8.2
44	hypertrophic cardiomyopathy	8.2
45	cholesterol	7.7
46	glycogen storage disease iib	7.7
47	glycogen storage disease multi-gene panels	7.7
48	hepatic adenoma	7.7
49	hypertension	7.7
50	aldolase a deficiency	7.7

Clinical features from OMIM: 300559

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to muscle glycogenosis:

²²

Articles related to muscle glycogenosis:

id	Title	Authors	Year	Affiliating Genes
1	Muscle glycogenosis due to phosphoglucomutase 1 deficiency. (19625727)	Stojkovic T.... Laforet P.	2009	PGM1
2	Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. (14568816)	Mancuso M.... DiMauro S.	2003	PYGM, DGUOK
3	Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. (12825073)	Burwinkel B.... Kilimann M.W.	2003	PYGM, PHKA2, PHKG1
4	Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency. (10832587)	Buhrer C.... Obladen M.	2000	NEK3
5	Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. (7874115)	Wehner M.... Kilimann M.W.	1994	PHKA2, PHKG1, PHKA1

Genes related to muscle glycogenosis according to GeneCards:

(show all 12)

id	Symbol	Description	Score	GeneCards Section Context
1	PHKA1	phosphorylase kinase, alpha 1 (muscle)	11.1	Summaries, Aliases & Descriptions, Publications
2	PHKG1P3	phosphorylase kinase, gamma 1 pseudogene 3	11.0	Publications
3	PHKG1P1	phosphorylase kinase, gamma 1 pseudogene 1	11.0	Publications
4	PHKG1P2	phosphorylase kinase, gamma 1 pseudogene 2	11.0	Publications
5	PHKA1P1	phosphorylase kinase, alpha 1 pseudogene 1	11.0	Publications
6	PHKG1	phosphorylase kinase, gamma 1 (muscle)	11.0	Publications
7	NEK3	NIMA (never in mitosis gene a)-related kinase 3	11.0	Publications
8	PYGM	phosphorylase, glycogen, muscle	11.0	Publications
9	PHKA2	phosphorylase kinase, alpha 2 (liver)	11.0	Publications
10	DGUOK	deoxyguanosine kinase	11.0	Publications
11	PHKB	phosphorylase kinase, beta	11.0	Publications
12	PGM1	phosphoglucomutase 1	11.0	Publications

Pathways related to muscle glycogenosis according to GeneDecks:

(show all 16)

id	Pathway	Score	Top Affiliating Genes
1	Development Beta-adrenergic receptors signaling via cAMP10	9.6	PYGM, PHKA1, PHKG1
2	Glycogen metabolism41	9.6	PGM1, PYGM
3	Development_Beta-adrenergic receptors signaling via cAMP41	9.6	PYGM, PHKA1, PHKG1
4	Glycogen metabolism10	9.5	PGM1, PYGM
5	Starch and sucrose metabolism20	9.5	PYGM, PGM1
6	Signal transduction cAMP signaling10	9.5	PHKG1, PHKA1, PHKA2
7	Signal transduction_cAMP signaling41	9.4	PHKA1, PHKA2, PHKG1
8	Galactose metabolism41	9.4	PYGM, PGM1
9	Galactose metabolism10	9.2	PYGM, PGM1
10	Alpha-Adrenergic Signaling36	8.8	PHKG1, PHKA2, PHKB, PHKA1
11	Calcium signaling pathway20	8.7	PHKA2, PHKA1, PHKG1, PHKB
12	Insulin signaling pathway20	8.3	PYGM, PHKA1, PHKA2, PHKB, PHKG1
13	PKA Signaling36	8.3	PHKB, PHKA2, PHKA1, PYGM, PHKG1
14	Activation of cAMP-Dependent PKA36	8.3	PHKA2, PHKG1, PHKB, PYGM, PHKA1
15	cAMP Pathway36	8.3	PHKA1, PYGM, PHKG1, PHKB, PHKA2
16	Glucose metabolism38	7.8	PHKA2, PHKB, PYGM, PHKA1, PHKG1, PGM1

Compounds related to muscle glycogenosis according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	adp32 18	9.5	PHKA2, PHKG1, DGUOK, NEK3
2	glycogen32 18	9.0	PYGM, PHKA2, PHKB, NEK3

Cellular components related to muscle glycogenosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphorylase kinase complex	GO:005964	8.2	PHKG1, PHKB, PHKA2, PHKA1
2	cytosol	GO:005829	6.9	PGM1, DGUOK, PHKG1, PHKB, PHKA2, PHKA1

Biological processes related to muscle glycogenosis according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	glycogen biosynthetic process	GO:005978	9.6	PHKG1, PGM1
2	glycogen metabolic process	GO:005977	8.9	PYGM, PHKA1, PHKB
3	generation of precursor metabolites and energy	GO:006091	8.6	PHKB, PHKA2, PHKA1
4	glycogen catabolic process	GO:005980	7.7	PGM1, PYGM, PHKA2, PHKB, PHKG1, PHKA1
5	glucose metabolic process	GO:006006	7.6	PHKA1, PHKA2, PHKB, PHKG1, PGM1, PYGM
6	carbohydrate metabolic process	GO:005975	7.6	PYGM, PHKB, PHKA1, PHKA2, PHKG1, PGM1
7	small molecule metabolic process	GO:044281	6.8	PHKA2, PYGM, PHKB, PHKG1, PGM1, DGUOK

Molecular functions related to muscle glycogenosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:004553	8.6	PHKA1, PHKB, PHKA2
2	calmodulin binding	GO:005516	8.5	PHKA1, PHKA2, PHKB, PHKG1
3	phosphorylase kinase activity	GO:004689	8.4	PHKB, PHKG1, PHKA1, PHKA2