MCID: GLC039
MIFTS: 19

Glucosephosphate Isomerase Deficiency malady

Categories: Rare diseases

Aliases & Classifications for Glucosephosphate Isomerase Deficiency

Aliases & Descriptions for Glucosephosphate Isomerase Deficiency:

Name: Glucosephosphate Isomerase Deficiency 50 29
Deficiency of Glucose-6-Phosphate Isomerase 69
Glucose Phosphate Isomerase Deficiency 69

Classifications:



Summaries for Glucosephosphate Isomerase Deficiency

MalaCards based summary : Glucosephosphate Isomerase Deficiency, also known as deficiency of glucose-6-phosphate isomerase, is related to glucose phosphate isomerase deficiency and hemolytic anemia. An important gene associated with Glucosephosphate Isomerase Deficiency is GPI (Glucose-6-Phosphate Isomerase), and among its related pathways/superpathways are Regulation of TP53 Activity and Glycosaminoglycan metabolism.

Related Diseases for Glucosephosphate Isomerase Deficiency

Diseases related to Glucosephosphate Isomerase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 glucose phosphate isomerase deficiency 11.1
2 hemolytic anemia 10.2
3 congenital nonspherocytic hemolytic anemia 10.2
4 hepatitis 10.0
5 goblet cell carcinoid 9.8 G6PD GPI
6 hepatitis b 9.8 G6PD GPI
7 nodular degeneration of cornea 9.8 G6PD GPI
8 meningeal melanocytoma 9.7 G6PD GPI

Graphical network of the top 20 diseases related to Glucosephosphate Isomerase Deficiency:



Diseases related to Glucosephosphate Isomerase Deficiency

Symptoms & Phenotypes for Glucosephosphate Isomerase Deficiency

Drugs & Therapeutics for Glucosephosphate Isomerase Deficiency

Search Clinical Trials , NIH Clinical Center for Glucosephosphate Isomerase Deficiency

Genetic Tests for Glucosephosphate Isomerase Deficiency

Genetic tests related to Glucosephosphate Isomerase Deficiency:

id Genetic test Affiliating Genes
1 Glucosephosphate Isomerase Deficiency 29

Anatomical Context for Glucosephosphate Isomerase Deficiency

Publications for Glucosephosphate Isomerase Deficiency

Articles related to Glucosephosphate Isomerase Deficiency:

(show all 21)
id Title Authors Year
1
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. ( 12737943 )
2003
2
GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency. ( 8218542 )
1993
3
Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden. ( 2115718 )
1990
4
Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family. ( 7353078 )
1980
5
Red cell glucosephosphate isomerase deficiency: two new mutant enzymes. ( 6780416 )
1980
6
Erythrocyte membrane proteins in hereditary glucosephosphate isomerase deficiency. ( 438320 )
1979
7
Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency. ( 391302 )
1979
8
A new variant of glucosephosphate isomerase deficiency with mild haemolytic anemia (GPI-MYTHO). ( 625628 )
1978
9
Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report. ( 870323 )
1977
10
Glucosephosphate isomerase deficiency type LiA"ge: a new variant with congenital nonspherocytic hemolytic anemia. ( 912103 )
1977
11
Excessive hepatic glycogen storage in glucosephosphate isomerase deficiency. ( 868511 )
1977
12
Decreased deformability of erythrocytes in haemolytic anaemia associated with glucosephosphate isomerase deficiency. ( 19031 )
1977
13
A new variant of glucosephosphate isomerase deficiency: GPI-Kortrijk. ( 18297 )
1977
14
Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn. ( 859289 )
1977
15
Haematological studies in a new variant of glucosephosphate isomerase deficiency (GPI Utrecht). ( 1270325 )
1976
16
A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht). ( 241517 )
1975
17
Unique phenotypic expression of glucosephosphate isomerase deficiency. ( 1155451 )
1975
18
A new variant of glucosephosphate isomerase deficiency. ( 1339 )
1975
19
Glucosephosphate isomerase deficiency in a Dutch family. ( 1189910 )
1975
20
Hereditary glucosephosphate isomerase deficiency. A review. ( 4611197 )
1974
21
Glucosephosphate isomerase deficiency: evidence for in vivo instability of an enzyme variant with hemolysis. ( 4694084 )
1973

Variations for Glucosephosphate Isomerase Deficiency

Expression for Glucosephosphate Isomerase Deficiency

Search GEO for disease gene expression data for Glucosephosphate Isomerase Deficiency.

Pathways for Glucosephosphate Isomerase Deficiency

GO Terms for Glucosephosphate Isomerase Deficiency

Biological processes related to Glucosephosphate Isomerase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 8.96 G6PD GPI
2 glucose 6-phosphate metabolic process GO:0051156 8.62 G6PD GPI

Sources for Glucosephosphate Isomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....