HA-GPID
MCID: HML021
MIFTS: 26

Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency (HA-GPID)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

MalaCards integrated aliases for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency:

Name: Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 57 29 13 6
Hemolytic Anemia, Non-Spherocytic, Due to Glucose Phosphate Isomerase Deficiency 72
Anemia, Hemolytic, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 39
Hemolytic Anemia Due to Glucophosphate Isomerase Deficiency 58
Ha-Gpid 72

Characteristics:

Orphanet epidemiological data:

58
hemolytic anemia due to glucophosphate isomerase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
response to splenectomy
stillbirth or early neonatal death


HPO:

31
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


External Ids:

OMIM® 57 613470
MeSH 44 D000746
ICD10 via Orphanet 33 D55.2
Orphanet 58 ORPHA712
MedGen 41 C3150730

Summaries for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

UniProtKB/Swiss-Prot : 72 Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency: A form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency.

MalaCards based summary : Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency, is also known as hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency. An important gene associated with Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency is GPI (Glucose-6-Phosphate Isomerase). Affiliated tissues include neutrophil, and related phenotypes are intellectual disability and ataxia

More information from OMIM: 613470

Related Diseases for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

Symptoms & Phenotypes for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

Human phenotypes related to Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 ataxia 31 HP:0001251
3 muscle weakness 31 HP:0001324
4 splenomegaly 31 HP:0001744
5 jaundice 31 HP:0000952
6 cholecystitis 31 HP:0001082
7 sensory ataxia 31 HP:0010871
8 pigment gallstones 31 HP:0011981
9 spontaneous hemolytic crises 31 HP:0005525
10 nonspherocytic hemolytic anemia 31 HP:0001930
11 impaired neutrophil bactericidal activity 31 HP:0011993
12 decreased glucosephosphate isomerase level 31 HP:0003568

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscle weakness

Skin Nails Hair Skin:
jaundice

Hematology:
spontaneous hemolytic crises
nonspherocytic hemolytic anemia

Laboratory Abnormalities:
phosphohexose isomerase deficiency
glucosephosphate isomerase deficiency
normal osmotic fragility
reduced leukocyte superoxide anion production
reduced leukocyte bactericidal activity

Abdomen Spleen:
splenomegaly

Abdomen Biliary Tract:
cholecystitis
pigment gallstones

Neurologic Central Nervous System:
mental retardation
mixed sensory and cerebellar ataxia

Clinical features from OMIM®:

613470 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

Search Clinical Trials , NIH Clinical Center for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency

Genetic Tests for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

Genetic tests related to Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency:

# Genetic test Affiliating Genes
1 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 29 GPI

Anatomical Context for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

MalaCards organs/tissues related to Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency:

40
Neutrophil

Publications for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

Articles related to Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency:

(show all 32)
# Title Authors PMID Year
1
DNA sequence abnormalities in human glucose 6-phosphate isomerase deficiency. 57 6
8499925 1993
2
Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency. 57
9856489 1998
3
Molecular analysis of glucose phosphate isomerase deficiency associated with hereditary hemolytic anemia. 6
8822954 1996
4
GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency. 57
8218542 1993
5
Glucose-6-phosphate isomerase deficiency associated with nonspherocytic hemolytic anemia in the mouse: an animal model for the human disease. 57
8417789 1993
6
PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system. 57
3476458 1987
7
Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. 57
3796702 1987
8
Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg). 57
4076245 1985
9
Glucosephosphate-isomerase type Kaiserslautern. A new variant causing congenital nonspherocytic hemolytic anemia. 57
6839028 1983
10
Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an Italian family. 57
7228040 1981
11
Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family. 57
7353078 1980
12
The first stable variant of erythrocyte glucose-phosphate isomerase associated with severe hemolytic anemia. 57
7435496 1980
13
Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency. 57
391302 1979
14
Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis. 57
469896 1979
15
'GPI Roma', a new glucose phosphate isomerase deficient variant: in vivo occurrence of postsynthetic modifications of the mutant enzyme. 57
422204 1979
16
Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis. 57
631848 1978
17
A new variant of glucosephosphate isomerase deficiency with mild haemolytic anemia (GPI-MYTHO). 57
625628 1978
18
A new mutant erythrocyte glucosephosphate isomerase (GPI) associated with GSH abnormality. 57
747179 1978
19
Glucosephosphate isomerase deficiency, a new variant in a Dutch family. Case report. 57
870323 1977
20
A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht). 57
241517 1975
21
A new variant of glucosephosphate isomerase deficiency. 57
1339 1975
22
Unique phenotypic expression of glucosephosphate isomerase deficiency. 57
1155451 1975
23
Hereditary glucosephosphate isomerase deficiency. A review. 57
4611197 1974
24
Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia. 57
4443856 1974
25
Glucosephosphate-isomerase (GPI) deficiency: GPI elyria. 57
4832160 1974
26
Electrophoretic and kinetic studies of glucosephosphate isomerase (GPI) in two different Japanese families with GPI deficiency. 57
4704861 1973
27
Characterization of two new variants of glucose-phosphate-isomerase deficiency with hereditary nonspherocytic hemolytic anemia. 57
5025461 1972
28
Detection of glucose-phosphate isomerase deficiency by a screening procedure. 57
5022716 1972
29
Linkage analyses using biochemical variants in mice. I. Linkage of the hemoglobin beta-chain and glucosephosphate isomerase loci. 57
5358143 1969
30
Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes. 57
5782480 1969
31
Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes. 57
5672849 1968
32
Inherited variations in human phosphohexose isomerase. 57
5673159 1968

Variations for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

ClinVar genetic disease variations for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPI NM_000175.5(GPI):c.475G>A (p.Gly159Ser) SNV Pathogenic 13639 rs137853582 GRCh37: 19:34868480-34868480
GRCh38: 19:34377575-34377575
2 GPI NM_000175.5(GPI):c.1574T>C (p.Ile525Thr) SNV Pathogenic 13641 rs137853584 GRCh37: 19:34890838-34890838
GRCh38: 19:34399933-34399933
3 GPI NM_000175.5(GPI):c.1615G>A (p.Asp539Asn) SNV Pathogenic 13642 rs137853585 GRCh37: 19:34890879-34890879
GRCh38: 19:34399974-34399974
4 GPI NM_000175.5(GPI):c.671C>T (p.Thr224Met) SNV Pathogenic 13643 rs61754634 GRCh37: 19:34869876-34869876
GRCh38: 19:34378971-34378971
5 GPI NM_000175.5(GPI):c.1028A>G (p.Gln343Arg) SNV Pathogenic 13646 rs267606851 GRCh37: 19:34884937-34884937
GRCh38: 19:34394032-34394032
6 GPI NM_000175.5(GPI):c.14C>T (p.Thr5Ile) SNV Pathogenic 13647 rs267606852 GRCh37: 19:34856185-34856185
GRCh38: 19:34365280-34365280
7 GPI NM_000175.5(GPI):c.1124C>G (p.Thr375Arg) SNV Pathogenic 13648 rs267606853 GRCh37: 19:34887267-34887267
GRCh38: 19:34396362-34396362
8 GPI NM_000175.5(GPI):c.1040G>A (p.Arg347His) SNV Pathogenic 13640 rs137853583 GRCh37: 19:34884949-34884949
GRCh38: 19:34394044-34394044
9 GPI NM_000175.5(GPI):c.-9A>G SNV Pathogenic 993840 GRCh37: 19:34856163-34856163
GRCh38: 19:34365258-34365258
10 GPI NM_000175.5(GPI):c.1336C>T (p.Arg446Ter) SNV Likely pathogenic 504899 rs774419705 GRCh37: 19:34890178-34890178
GRCh38: 19:34399273-34399273
11 GPI NM_000175.5(GPI):c.1270-9G>A SNV Uncertain significance 994261 GRCh37: 19:34890103-34890103
GRCh38: 19:34399198-34399198
12 GPI NM_000175.5(GPI):c.572A>G (p.His191Arg) SNV Uncertain significance 811712 rs758281551 GRCh37: 19:34868725-34868725
GRCh38: 19:34377820-34377820
13 GPI NM_000175.5(GPI):c.640A>G (p.Thr214Ala) SNV Uncertain significance 1029693 GRCh37: 19:34869845-34869845
GRCh38: 19:34378940-34378940
14 GPI NM_000175.5(GPI):c.1498G>A (p.Val500Ile) SNV Uncertain significance 1031447 GRCh37: 19:34890647-34890647
GRCh38: 19:34399742-34399742
15 GPI NM_000175.5(GPI):c.1595G>C (p.Ser532Thr) SNV Uncertain significance 1031448 GRCh37: 19:34890859-34890859
GRCh38: 19:34399954-34399954
16 GPI NM_000175.5(GPI):c.751-5dup Duplication Benign 993977 GRCh37: 19:34872355-34872356
GRCh38: 19:34381450-34381451
17 GPI NM_000175.5(GPI):c.948C>A (p.Ala316=) SNV Benign 994193 GRCh37: 19:34884857-34884857
GRCh38: 19:34393952-34393952
18 GPI NM_000175.5(GPI):c.762G>A (p.Lys254=) SNV Benign 439764 rs1864139 GRCh37: 19:34872382-34872382
GRCh38: 19:34381477-34381477
19 GPI NM_000175.5(GPI):c.122+20G>A SNV Benign 811678 rs8191360 GRCh37: 19:34856313-34856313
GRCh38: 19:34365408-34365408
20 GPI NM_000175.5(GPI):c.489A>G (p.Gly163=) SNV Benign 255472 rs1801015 GRCh37: 19:34868642-34868642
GRCh38: 19:34377737-34377737

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency:

72 (show all 24)
# Symbol AA change Variation ID SNP ID
1 GPI p.Thr5Ile VAR_002516 rs267606852
2 GPI p.His20Pro VAR_002517 rs137853586
3 GPI p.Arg75Gly VAR_002518 rs124698011
4 GPI p.Arg83Trp VAR_002519 rs983725326
5 GPI p.Gly159Ser VAR_002520 rs137853582
6 GPI p.Val101Met VAR_002521 rs757341382
7 GPI p.Thr195Ile VAR_002522 rs142686933
8 GPI p.Thr224Met VAR_002523 rs61754634
9 GPI p.Arg273His VAR_002524 rs125002951
10 GPI p.Ser278Leu VAR_002525 rs34306618
11 GPI p.Ala300Pro VAR_002526 rs143539822
12 GPI p.Leu339Pro VAR_002527 rs137853587
13 GPI p.Gln343Arg VAR_002528 rs267606851
14 GPI p.Arg347Cys VAR_002529 rs758132799
15 GPI p.Arg347His VAR_002530 rs137853583
16 GPI p.Thr375Arg VAR_002531 rs267606853
17 GPI p.His389Arg VAR_002532 rs139382538
18 GPI p.Arg472His VAR_002533 rs148811525
19 GPI p.Leu487Phe VAR_002534 rs374583873
20 GPI p.Glu495Lys VAR_002535 rs900848255
21 GPI p.Leu517Val VAR_002536
22 GPI p.Ile525Thr VAR_002537 rs137853584
23 GPI p.Asp539Asn VAR_002538 rs137853585
24 GPI p.Arg472Cys VAR_082093 rs136438218

Expression for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

Search GEO for disease gene expression data for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency.

Pathways for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

GO Terms for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

Sources for Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate...

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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61 PubMed
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71 UMLS via Orphanet
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