MCID: GLC039
MIFTS: 20

Glucosephosphate Isomerase Deficiency

Categories: Rare diseases

Aliases & Classifications for Glucosephosphate Isomerase Deficiency

MalaCards integrated aliases for Glucosephosphate Isomerase Deficiency:

Name: Glucosephosphate Isomerase Deficiency 49 28
Deficiency of Glucose-6-Phosphate Isomerase 69
Glucose Phosphate Isomerase Deficiency 69

Classifications:



External Ids:

Summaries for Glucosephosphate Isomerase Deficiency

MalaCards based summary : Glucosephosphate Isomerase Deficiency, also known as deficiency of glucose-6-phosphate isomerase, is related to congenital nonspherocytic hemolytic anemia 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:

# Related Disease Score Top Affiliating Genes
1 congenital nonspherocytic hemolytic anemia 29.9 G6PD GPI
2 hemolytic anemia 29.5 G6PD GPI
3 glucose phosphate isomerase deficiency 11.2
4 hepatitis 10.1
5 congenital hemolytic anemia 9.5 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:

# Genetic test Affiliating Genes
1 Glucosephosphate Isomerase Deficiency 28

Anatomical Context for Glucosephosphate Isomerase Deficiency

Publications for Glucosephosphate Isomerase Deficiency

Articles related to Glucosephosphate Isomerase Deficiency:

(show all 21)
# 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
Red cell glucosephosphate isomerase deficiency: two new mutant enzymes. ( 6780416 )
1980
5
Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family. ( 7353078 )
1980
6
Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency. ( 391302 )
1979
7
Erythrocyte membrane proteins in hereditary glucosephosphate isomerase deficiency. ( 438320 )
1979
8
A new variant of glucosephosphate isomerase deficiency with mild haemolytic anemia (GPI-MYTHO). ( 625628 )
1978
9
Excessive hepatic glycogen storage in glucosephosphate isomerase deficiency. ( 868511 )
1977
10
Glucosephosphate isomerase deficiency type LiA"ge: a new variant with congenital nonspherocytic hemolytic anemia. ( 912103 )
1977
11
A new variant of glucosephosphate isomerase deficiency: GPI-Kortrijk. ( 18297 )
1977
12
Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report. ( 870323 )
1977
13
Decreased deformability of erythrocytes in haemolytic anaemia associated with glucosephosphate isomerase deficiency. ( 19031 )
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
Glucosephosphate isomerase deficiency in a Dutch family. ( 1189910 )
1975
18
A new variant of glucosephosphate isomerase deficiency. ( 1339 )
1975
19
Unique phenotypic expression of glucosephosphate isomerase deficiency. ( 1155451 )
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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....