MCID: GLC081
MIFTS: 26

Glucose Phosphate Isomerase Deficiency

Categories: Immune diseases, Blood diseases

Aliases & Classifications for Glucose Phosphate Isomerase Deficiency

MalaCards integrated aliases for Glucose Phosphate Isomerase Deficiency:

Name: Glucose Phosphate Isomerase Deficiency 24 69
Nonspherocytic Hemolytic Anemia Due to Glucose Phosphate Isomerase Deficiency 24
Anemia Due to Glucose Phosphate Isomerase Deficiency 69
Deficiency of Glucose-6-Phosphate Isomerase 69
Glucose-6-Phosphate Isomerase Deficiency 24
Glycosylphosphatidylinositol Deficiency 69
Glucosephosphate Isomerase Deficiency 24
Gpi Deficiency 24

Classifications:



Summaries for Glucose Phosphate Isomerase Deficiency

Genetics Home Reference : 24 Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.

MalaCards based summary : Glucose Phosphate Isomerase Deficiency, also known as nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency, is related to hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency and glucosephosphate isomerase deficiency, and has symptoms including absence seizures An important gene associated with Glucose Phosphate Isomerase Deficiency is GPI (Glucose-6-Phosphate Isomerase). Affiliated tissues include skin, eye and heart.

Related Diseases for Glucose Phosphate Isomerase Deficiency

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



Diseases related to Glucose Phosphate Isomerase Deficiency

Symptoms & Phenotypes for Glucose Phosphate Isomerase Deficiency

UMLS symptoms related to Glucose Phosphate Isomerase Deficiency:


absence seizures

Drugs & Therapeutics for Glucose Phosphate Isomerase Deficiency

Search Clinical Trials , NIH Clinical Center for Glucose Phosphate Isomerase Deficiency

Genetic Tests for Glucose Phosphate Isomerase Deficiency

Anatomical Context for Glucose Phosphate Isomerase Deficiency

MalaCards organs/tissues related to Glucose Phosphate Isomerase Deficiency:

38
Skin, Eye, Heart, Spleen, Kidney

Publications for Glucose Phosphate Isomerase Deficiency

Articles related to Glucose Phosphate Isomerase Deficiency:

(show all 23)
# Title Authors Year
1
Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report. ( 26509025 )
2015
2
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. ( 22782259 )
2012
3
Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation. ( 15949716 )
2005
4
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. ( 9362562 )
1997
5
Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia. ( 9266190 )
1997
6
Hematologically important mutations: molecular abnormalities of glucose phosphate isomerase deficiency. ( 8931949 )
1996
7
Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. ( 8822954 )
1996
8
Study of the molecular defects in glucose phosphate isomerase- deficient patients affected by chronic hemolytic anemia. ( 8822952 )
1996
9
The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. ( 7989588 )
1994
10
[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]. ( 7927011 )
1994
11
Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. ( 3796702 )
1987
12
First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency. ( 3703821 )
1986
13
Glucose phosphate isomerase deficiency. Unusual acute hemolytic crisis in a middle-aged woman. ( 7263280 )
1980
14
Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency. ( 7449787 )
1980
15
Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis. ( 469896 )
1979
16
Hemodialysis and kidney transplantation in a patient with glucose phosphate isomerase deficiency. ( 388765 )
1979
17
Three variants of glucose-phosphate isomerase deficiency. ( 732850 )
1978
18
Glucose-phosphate isomerase deficiency due to a new variant (GP I Barcelona) and to a silent gene: biochemical, immunological and genetic studies. ( 1164 )
1976
19
Priapism caused by glucose phosphate isomerase deficiency. ( 1003664 )
1976
20
Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: clinical and familial studies. ( 240775 )
1975
21
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). II. Purification and biochemical properties of the defective enzyme. ( 4809304 )
1974
22
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies. ( 4809302 )
1974
23
Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia. ( 4443856 )
1974

Variations for Glucose Phosphate Isomerase Deficiency

ClinVar genetic disease variations for Glucose Phosphate Isomerase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPI NM_000175.4(GPI): c.475G> A (p.Gly159Ser) single nucleotide variant Pathogenic rs137853582 GRCh37 Chromosome 19, 34868480: 34868480
2 GPI NM_000175.4(GPI): c.1040G> A (p.Arg347His) single nucleotide variant Pathogenic rs137853583 GRCh37 Chromosome 19, 34884949: 34884949
3 GPI NM_000175.4(GPI): c.1574T> C (p.Ile525Thr) single nucleotide variant Pathogenic rs137853584 GRCh37 Chromosome 19, 34890838: 34890838
4 GPI NM_000175.4(GPI): c.1615G> A (p.Asp539Asn) single nucleotide variant Pathogenic rs137853585 GRCh37 Chromosome 19, 34890879: 34890879
5 GPI NM_000175.4(GPI): c.671C> T (p.Thr224Met) single nucleotide variant Pathogenic rs61754634 GRCh37 Chromosome 19, 34869876: 34869876
6 GPI NM_000175.4(GPI): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs267606851 GRCh37 Chromosome 19, 34884937: 34884937
7 GPI NM_000175.4(GPI): c.14C> T (p.Thr5Ile) single nucleotide variant Pathogenic rs267606852 GRCh37 Chromosome 19, 34856185: 34856185
8 GPI NM_000175.4(GPI): c.1124C> G (p.Thr375Arg) single nucleotide variant Pathogenic rs267606853 GRCh37 Chromosome 19, 34887267: 34887267

Expression for Glucose Phosphate Isomerase Deficiency

Search GEO for disease gene expression data for Glucose Phosphate Isomerase Deficiency.

Pathways for Glucose Phosphate Isomerase Deficiency

GO Terms for Glucose Phosphate Isomerase Deficiency

Sources for Glucose Phosphate Isomerase Deficiency

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10 dbSNP
11 DGIdb
16 ExPASy
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