Aldolase a Deficiency malady

Wikipedia: Aldolase A deficiency, also called ALDOA deficiency and red cell aldolase deficiency, is an autosomal...⁴⁴ more...

MalaCards: Aldolase a Deficiency, also known as glycogen storage disease xii, is related to renal cell carcinoma and fructose intolerance. An important gene associated with Aldolase a Deficiency is ALDOA (aldolase A, fructose-bisphosphate), and among its related pathways are Glycolysis and Pentose phosphate pathway. The compounds 1,6-Fructose Diphosphate (Linear Form) and 1,3-Dihydroxyacetonephosphate have been mentioned in the context of this disorder.

OMIM: 611881

aldolase a deficiency 7 16 glycogen storage disease xii 16 33

hereditary nonspherocytic hemolytic anemia (hnsha) due to aldolase a deficiency 43 gsd12 16

Diseases related to aldolase a deficiency by text searches and GeneDecks gene sharing:

(show all 32)

id	Related Disease	Score	Top Affiliating Genes
1	renal cell carcinoma	12.3	ALDOB, ALDOA
2	fructose intolerance	11.4	ALDOC, ALDOB, ALDOA
3	eumycotic mycetoma	11.2	ALDOC, ALDOB, ALDOA
4	glycogen storage disease vi	7.9
5	glycogen storage disease ib	7.9
6	glycogen storage disease type 0	7.9
7	glycogen storage disease i	7.7
8	glycogen storage disease type ia	7.7
9	glycogen storage disease v	7.5
10	glycogen storage disease iv	7.5
11	glycogen storage disease ii	7.5
12	glycogen storage disease iii	7.3
13	glycogen storage disease type 13	7.3
14	glycogen storage disease ix	7.0
15	glycogen storage disease viii	7.0
16	glycogen storage disease	7.0
17	phosphoglycerate mutase deficiency	7.0
18	danon disease	6.6
19	glycogen storage disease vii	6.6
20	glycogen storage disease type 0, muscle	6.6
21	phka2-related phosphorylase kinase deficiency	6.6
22	phkb-related phosphorylase kinase deficiency	6.6
23	phkg2-related phosphorylase kinase deficiency	6.6
24	glycogen storage disease type 12	6.5
25	hemolytic anemia	6.5
26	anemia	6.5
27	glycogen storage disease type 1b	6.1
28	asthma	5.2
29	glycogen storage disease type 14	5.2
30	glycogen storage disease type 1a	5.2
31	glycogen storage disease multi-gene panels	5.2
32	lysosomal storage disease	5.2

Clinical features from OMIM: 611881

Approved drugs:

Drug clinical trials:

Genetic tests related to aldolase a deficiency:

id	Genetic test	Affiliating Genes
1	Aldolase A Deficiency clinical/research	ALDOA

Articles related to aldolase a deficiency:

id	Title	Authors	Year	Affiliating Genes
1	Aldolase A deficiency (11596407)	Tsujino S.	2001	ALDOA
2	Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. (2825199)	Kishi H.... Hori K.	1987	ALDOA

Genes related to aldolase a deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ALDOA	aldolase A, fructose-bisphosphate	11.1	Publications, Orthologs, Summaries
2	ALDOC	aldolase C, fructose-bisphosphate	11.0	Orthologs
3	ALDOB	aldolase B, fructose-bisphosphate	11.0	Orthologs

Pathways related to aldolase a deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glycolysis38	8.7	ALDOA, ALDOB, ALDOC
2	Pentose phosphate pathway20	8.6	ALDOC, ALDOB, ALDOA
3	Glycolysis and gluconeogenesis (short map)10	8.6	ALDOA, ALDOB, ALDOC
4	Glycolysis and gluconeogenesis (short map)41	8.5	ALDOC, ALDOB, ALDOA
5	Metabolic pathways20	8.5	ALDOA, ALDOB, ALDOC
6	Fructose and mannose metabolism20	8.4	ALDOA, ALDOB, ALDOC
7	Glycolysis / Gluconeogenesis20	8.2	ALDOC, ALDOB, ALDOA

Compounds related to aldolase a deficiency according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	1,6-Fructose Diphosphate (Linear Form)9 9	10.5	ALDOA, ALDOB
2	1,3-Dihydroxyacetonephosphate9 9	10.4	ALDOB, ALDOA
3	fructose-1,6-bisphosphate32	9.4	ALDOA, ALDOB
4	fructose32 9 9	11.3	ALDOB, ALDOA
5	pyruvate32	9.3	ALDOA, ALDOB
6	glyceraldehyde 3-phosphate32	9.0	ALDOA, ALDOB
7	fructose 1-phosphate32 18	9.7	ALDOA, ALDOB, ALDOC
8	zinc32 18	9.4	ALDOA, ALDOB, ALDOC

Cellular components related to aldolase a deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytosol	GO:005829	8.5	ALDOA, ALDOB, ALDOC

Biological processes related to aldolase a deficiency according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	protein homotetramerization	GO:051289	8.9	ALDOC, ALDOA
2	response to organic cyclic compound	GO:014070	8.8	ALDOB, ALDOC
3	fructose 1,6-bisphosphate metabolic process	GO:030388	8.7	ALDOA, ALDOB, ALDOC
4	fructose metabolic process	GO:006000	8.7	ALDOA, ALDOB, ALDOC
5	gluconeogenesis	GO:006094	8.7	ALDOC, ALDOB, ALDOA
6	glycolysis	GO:006096	8.6	ALDOA, ALDOB, ALDOC
7	glucose metabolic process	GO:006006	8.6	ALDOC, ALDOB, ALDOA
8	carbohydrate metabolic process	GO:005975	8.5	ALDOA, ALDOB, ALDOC
9	small molecule metabolic process	GO:044281	8.5	ALDOA, ALDOB, ALDOC

Molecular functions related to aldolase a deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:042802	9.3	ALDOA, ALDOB
2	fructose binding	GO:070061	9.0	ALDOA, ALDOB
3	fructose-bisphosphate aldolase activity	GO:004332	8.5	ALDOA, ALDOB, ALDOC
4	cytoskeletal protein binding	GO:008092	8.4	ALDOC, ALDOB, ALDOA