MCID: GLC039
MIFTS: 17

Glucosephosphate Isomerase Deficiency

Categories: Rare diseases

Aliases & Classifications for Glucosephosphate Isomerase Deficiency

MalaCards integrated aliases for Glucosephosphate Isomerase Deficiency:

Name: Glucosephosphate Isomerase Deficiency 20
Deficiency of Glucose-6-Phosphate Isomerase 70
Glucose Phosphate Isomerase Deficiency 70

Classifications:



External Ids:

UMLS 70 C0398561 C1291611

Summaries for Glucosephosphate Isomerase Deficiency

MalaCards based summary : Glucosephosphate Isomerase Deficiency, also known as deficiency of glucose-6-phosphate isomerase, is related to hemolytic anemia and congenital nonspherocytic 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 hemolytic anemia 30.4 GPI G6PD
2 congenital nonspherocytic hemolytic anemia 30.2 GPI G6PD
3 congenital hemolytic anemia 29.4 GPI G6PD
4 glucose phosphate isomerase deficiency 11.3
5 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 10.6
6 autosomal recessive disease 10.3
7 splenic sequestration 10.1
8 cutaneous leishmaniasis 9.6 GPI G6PD

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

Anatomical Context for Glucosephosphate Isomerase Deficiency

Publications for Glucosephosphate Isomerase Deficiency

Articles related to Glucosephosphate Isomerase Deficiency:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene. 61
31415279 2020
2
Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach. 61
31401766 2019
3
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction. 61
31030358 2019
4
Glucose phosphate isomerase (GPI) Tadikonda: Characterization of a novel Pro340Ser mutation. 61
29227722 2017
5
Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report. 61
26509025 2015
6
Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene. 61
22782259 2012
7
Red blood cell disorders in Rwandese neonates: screening for sickle cell disease and glucose-6-phosphate dehydrogenase deficiency. 61
17007653 2006
8
Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation. 61
15949716 2005
9
Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome. 61
12737943 2003
10
Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia. 61
9266190 1997
11
Erythrocyte pyruvate kinase- and glucose phosphate isomerase deficiency: perturbation of glycolysis by structural defects and functional alterations of defective enzymes and its relation to the clinical severity of chronic hemolytic anemia. 61
9362562 1997
12
Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 61
8822954 1996
13
Hematologically important mutations: molecular abnormalities of glucose phosphate isomerase deficiency. 61
8931949 1996
14
Red cell enzymopathies as a model of inborn errors of metabolism. 61
8629088 1995
15
The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. 61
7989588 1994
16
[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]. 61
7927011 1994
17
GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency. 61
8218542 1993
18
Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden. 61
2115718 1990
19
Enzymatic diagnosis in non-spherocytic hemolytic anemia. 61
3352512 1988
20
Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. 61
3796702 1987
21
Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants. 61
3719111 1986
22
First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency. 61
3703821 1986
23
Red cell glucosephosphate isomerase deficiency: two new mutant enzymes. 61
6780416 1980
24
Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency. 61
7449787 1980
25
[Two cases in a family with new variants of glucose phosphate isomerase deficiency (author's transl)]. 61
7411886 1980
26
[Glucosephosphate isomerase deficiency]. 61
7360287 1980
27
Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family. 61
7353078 1980
28
Glucose phosphate isomerase deficiency. Unusual acute hemolytic crisis in a middle-aged woman. 61
7263280 1980
29
A combined system for the study of glutathione metabolism in erythrocytes. 61
7440224 1980
30
Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency. 61
391302 1979
31
Hemodialysis and kidney transplantation in a patient with glucose phosphate isomerase deficiency. 61
388765 1979
32
Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis. 61
469896 1979
33
Erythrocyte membrane proteins in hereditary glucosephosphate isomerase deficiency. 61
438320 1979
34
Three variants of glucose-phosphate isomerase deficiency. 61
732850 1978
35
A new variant of glucosephosphate isomerase deficiency with mild haemolytic anemia (GPI-MYTHO). 61
625628 1978
36
Glucosephosphate isomerase deficiency type Liège: a new variant with congenital nonspherocytic hemolytic anemia. 61
912103 1977
37
Decreased deformability of erythrocytes in haemolytic anaemia associated with glucosephosphate isomerase deficiency. 61
19031 1977
38
A new variant of glucosephosphate isomerase deficiency: GPI-Kortrijk. 61
18297 1977
39
Excessive hepatic glycogen storage in glucosephosphate isomerase deficiency. 61
868511 1977
40
Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn. 61
859289 1977
41
Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report. 61
870323 1977
42
Priapism caused by glucose phosphate isomerase deficiency. 61
1003664 1976
43
Mechanisms of the acquired erythrocyte enzyme deficiencies in blood diseases. 61
134855 1976
44
Haematological studies in a new variant of glucosephosphate isomerase deficiency (GPI Utrecht). 61
1270325 1976
45
[Phospho-hexo-isomerase deficiency]. 61
1070290 1976
46
Glucose-phosphate isomerase deficiency due to a new variant (GP I Barcelona) and to a silent gene: biochemical, immunological and genetic studies. 61
1164 1976
47
[Immunological studies on glucosephosphate isomerase deficiency: instability and impaired synthesis of the defective enzyme (author's transl)]. 61
1206972 1975
48
A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht). 61
241517 1975
49
Glucosephosphate isomerase deficiency in a Dutch family. 61
1189910 1975
50
Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: clinical and familial studies. 61
240775 1975

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 GPI G6PD
2 glucose 6-phosphate metabolic process GO:0051156 8.62 GPI G6PD

Sources for Glucosephosphate Isomerase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....