Glycogen Storage Disease Vii malady

Wikipedia: Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui\'s disease, is...⁴⁴ more...

MalaCards: Glycogen Storage Disease Vii, also known as glycogen storage disease type vii, is related to glycogen storage disease and glycogen storage disease type ia. An important gene associated with Glycogen Storage Disease Vii is PFKM (phosphofructokinase, muscle), and among its related pathways are Glycolysis and Galactose metabolism. The compounds inosine triphosphate and Adenosine triphosphate have been mentioned in the context of this disorder.

OMIM: 232800

Aliases & Descriptions:

glycogen storage disease vii 6 7 33 glycogen storage disease type vii 6 43 glycogen storage disease type 7 30 16 phosphofructokinase deficiency 16 32 tarui disease 30 16 muscle phosphofructokinase deficiency (disorder) 6 glycogen storage disease, type vii (disorder) 6 muscle phosphofructokinase deficiency 30

phosphofructokinase myopathy 6 glycogen storage disease 43 pfkm deficiency 30 pfk deficiency 16 malnutrition 43 gsd vii 16 gsdvii 16 gsd7 30

Disease types for glycogen storage disease family:

glycogen storage disease vii	glycogen storage disease i
glycogen storage disease iii	glycogen storage disease v
glycogen storage disease vi	glycogen storage disease viii
glycogen storage disease iv	glycogen storage disease ii
glycogen storage disease ix	glycogen storage disease xv
glycogen storage disease ib	glycogen storage disease ic
glycogen storage disease iib	glycogen storage disease iiia
glycogen storage disease iiib	glycogen storage disease type 0
glycogen storage disease type 12	glycogen storage disease type 13
glycogen storage disease type 14	glycogen storage disease type 1a
glycogen storage disease type 1b	glycogen storage disease type ia

Diseases related to glycogen storage disease vii by text searches and GeneDecks gene sharing:

(show top 50)    (show all 374)

id	Related Disease	Score	Top Affiliating Genes
1	glycogen storage disease	29.8	PFKM, PFKP
2	glycogen storage disease type ia	12.2
3	pharyngitis	12.1	PFKM, PFKP
4	glycogen storage disease type 1a	11.8
5	glycogen storage disease type 1b	11.2
6	glycogen storage disease v	11.1
7	glycogen storage disease vi	10.9
8	glycogen storage disease iii	10.8
9	glycogen storage disease i	10.6
10	glycogen storage disease type 0	10.3
11	glycogen storage disease ii	10.3
12	glycogen storage disease ix	10.2
13	glycogen storage disease iv	9.7
14	neutropenia	9.7
15	hepatitis	9.5
16	hypoglycemia	9.5
17	phka2-related phosphorylase kinase deficiency	9.3
18	danon disease	9.0
19	glycogen storage disease viii	9.0
20	glycogen storage disease type 0, muscle	9.0
21	phkb-related phosphorylase kinase deficiency	9.0
22	protein-energy malnutrition	8.9
23	adenoma	8.6
24	glycogen storage disease type 13	8.6
25	phka1-related phosphorylase kinase deficiency	8.6
26	phkg2-related phosphorylase kinase deficiency	8.6
27	glycogen storage disease ic	8.6
28	glycogen storage disease iiia	8.6
29	glycogen storage disease iiib	8.6
30	glycogen storage disease of heart, lethal congenital	8.6
31	cardiomyopathy	8.1
32	glycogen storage disease type 12	8.1
33	glycogen storage disease type 14	8.1
34	glycogen storage disease type 6, due to phosphorylation	8.1
35	glycogen storage disease, type ixa1	8.1
36	glycogen storage disease, type ixa2	8.1
37	cholesterol	8.1
38	glycogen storage disease iib	7.7
39	hypertension	7.7
40	hemolytic anemia due to phosphofructokinase deficiency	7.6
41	peritonitis	7.5
42	hepatocellular carcinoma	7.2
43	hepatic adenoma	7.2
44	hydrops fetalis	7.2
45	hypertrophic cardiomyopathy	7.2
46	hypotonia	7.2
47	leukemia	7.2
48	acute myeloid leukemia	7.2
49	liver cirrhosis	7.2
50	atherosclerosis	7.2

Clinical features from OMIM: 232800

Approved drugs:

Drug clinical trials:

Genetic tests related to glycogen storage disease vii:

id	Genetic test	Affiliating Genes
1	Glycogen Storage Disease Vii clinical/research	PFKM

Genes related to glycogen storage disease vii according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PFKM	phosphofructokinase, muscle	11.0
2	PFKP	phosphofructokinase, platelet	11.0

Pathways related to glycogen storage disease vii according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glycolysis38	9.3	PFKM, PFKP
2	Galactose metabolism20	9.3	PFKM, PFKP
3	Pentose phosphate pathway20	9.3	PFKM, PFKP
4	Glycolysis and gluconeogenesis (short map)10	9.2	PFKM, PFKP
5	Glycolysis and gluconeogenesis (short map)41	9.2	PFKP, PFKM
6	Fructose and mannose metabolism20	9.1	PFKM, PFKP
7	Akt Signaling36	9.1	PFKM, PFKP
8	Glycolysis / Gluconeogenesis20	9.0	PFKM, PFKP
9	AMPK Enzyme Complex Pathway36	8.8	PFKM, PFKP

Compounds related to glycogen storage disease vii according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	inosine triphosphate32 18	10.1	PFKM, PFKP
2	Adenosine triphosphate9 18 9	11.1	PFKM, PFKP
3	magnesium32 9 18 9	12.0	PFKM, PFKP
4	adp32 18	9.8	PFKM, PFKP

Cellular components related to glycogen storage disease vii according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	6-phosphofructokinase complex	GO:005945	9.1	PFKM, PFKP

Biological processes related to glycogen storage disease vii according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	carbohydrate metabolic process	GO:005975	9.1	PFKM, PFKP
2	glycolysis	GO:006096	9.0	PFKM, PFKP
3	glucose metabolic process	GO:006006	8.8	PFKM, PFKP

Molecular functions related to glycogen storage disease vii according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	6-phosphofructokinase activity	GO:003872	9.1	PFKM, PFKP