MCID: GLC081
MIFTS: 19

Glucose Phosphate Isomerase Deficiency

Categories: Infectious diseases

Aliases & Classifications for Glucose Phosphate Isomerase Deficiency

MalaCards integrated aliases for Glucose Phosphate Isomerase Deficiency:

Name: Glucose Phosphate Isomerase Deficiency 43 70
Nonspherocytic Hemolytic Anemia Due to Glucose Phosphate Isomerase Deficiency 43
Anemia Due to Glucose Phosphate Isomerase Deficiency 70
Deficiency of Glucose-6-Phosphate Isomerase 70
Glucose-6-Phosphate Isomerase Deficiency 43
Glycosylphosphatidylinositol Deficiency 70
Glucosephosphate Isomerase Deficiency 43
Gpi Deficiency 43

Classifications:



External Ids:

UMLS 70 C0398561 C1291611 C1853205 more

Summaries for Glucose Phosphate Isomerase Deficiency

MedlinePlus Genetics : 43 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.Hemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.A small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).

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). The drugs Pancrelipase and pancreatin have been mentioned in the context of this disorder. Affiliated tissues include spleen.

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

Drugs for Glucose Phosphate Isomerase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational 53608-75-6
2 pancreatin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study Completed NCT00499070

Search 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:

40
Spleen

Publications for Glucose Phosphate Isomerase Deficiency

Articles related to Glucose Phosphate Isomerase Deficiency:

(show all 34)
# 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
Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia. 61
9266190 1997
10
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
11
Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 61
8822954 1996
12
Hematologically important mutations: molecular abnormalities of glucose phosphate isomerase deficiency. 61
8931949 1996
13
The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia. 61
7989588 1994
14
[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia]. 61
7927011 1994
15
Enzymatic diagnosis in non-spherocytic hemolytic anemia. 61
3352512 1988
16
Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. 61
3796702 1987
17
First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency. 61
3703821 1986
18
Successful long-term phenobarbital therapy of hyperbilirubinemia in congenital hemolytic anemia due to glucose phosphate isomerase deficiency. 61
7449787 1980
19
[Two cases in a family with new variants of glucose phosphate isomerase deficiency (author's transl)]. 61
7411886 1980
20
A combined system for the study of glutathione metabolism in erythrocytes. 61
7440224 1980
21
Glucose phosphate isomerase deficiency. Unusual acute hemolytic crisis in a middle-aged woman. 61
7263280 1980
22
Hemodialysis and kidney transplantation in a patient with glucose phosphate isomerase deficiency. 61
388765 1979
23
Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis. 61
469896 1979
24
Three variants of glucose-phosphate isomerase deficiency. 61
732850 1978
25
Priapism caused by glucose phosphate isomerase deficiency. 61
1003664 1976
26
Mechanisms of the acquired erythrocyte enzyme deficiencies in blood diseases. 61
134855 1976
27
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
28
Glucose phosphate isomerase deficiency with hereditary hemolytic anemia in a Spanish family: clinical and familial studies. 61
240775 1975
29
[Serum iron in hemolytic anemia (author's transl)]. 61
1123896 1975
30
Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia. 61
4443856 1974
31
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). II. Purification and biochemical properties of the defective enzyme. 61
4809304 1974
32
Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies. 61
4809302 1974
33
Characterization of two new variants of glucose-phosphate-isomerase deficiency with hereditary nonspherocytic hemolytic anemia. 61
5025461 1972
34
Detection of glucose-phosphate isomerase deficiency by a screening procedure. 61
5022716 1972

Variations for Glucose Phosphate Isomerase Deficiency

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

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
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