MCID: HML021
MIFTS: 21

Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency

Categories: Genetic diseases, Metabolic diseases, Blood 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 75
Hemolytic Anemia Due to Glucophosphate Isomerase Deficiency 59
Ha-Gpid 75

Characteristics:

Orphanet epidemiological data:

59
hemolytic anemia due to glucophosphate isomerase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613470
Orphanet 59 ORPHA712
ICD10 via Orphanet 34 D55.2
MedGen 42 C3150730
MeSH 44 D000746

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

UniProtKB/Swiss-Prot : 75 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 jaundice and cholecystitis

Description from OMIM: 613470

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

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

Symptoms via clinical synopsis from OMIM:

57
Muscle:
muscle weakness

Skin:
jaundice

Heme:
nonspherocytic hemolytic anemia
spontaneous hemolytic crises

Misc:
response to splenectomy
stillbirth or early neonatal death ( ? recessive)

GI:
splenomegaly
pigment gallstones
cholecystitis

Neuro:
mental retardation
mixed sensory and cerebellar ataxia

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


Clinical features from OMIM:

613470

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 cholecystitis 32 HP:0001082
3 intellectual disability 32 HP:0001249
4 ataxia 32 HP:0001251
5 muscle weakness 32 HP:0001324
6 splenomegaly 32 HP:0001744
7 nonspherocytic hemolytic anemia 32 HP:0001930
8 decreased glucosephosphate isomerase activity 32 HP:0003568
9 spontaneous hemolytic crises 32 HP:0005525
10 sensory ataxia 32 HP:0010871
11 pigment gallstones 32 HP:0011981
12 impaired neutrophil bactericidal activity 32 HP:0011993

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:

41
Neutrophil

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

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

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

75 (show all 23)
# 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
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
8 GPI p.Thr224Met VAR_002523 rs61754634
9 GPI p.Arg273His VAR_002524
10 GPI p.Ser278Leu VAR_002525 rs34306618
11 GPI p.Ala300Pro VAR_002526
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

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

6
(show all 16)
# 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.475G> A (p.Gly159Ser) single nucleotide variant Pathogenic rs137853582 GRCh38 Chromosome 19, 34377575: 34377575
3 GPI NM_000175.4(GPI): c.1040G> A (p.Arg347His) single nucleotide variant Pathogenic rs137853583 GRCh37 Chromosome 19, 34884949: 34884949
4 GPI NM_000175.4(GPI): c.1040G> A (p.Arg347His) single nucleotide variant Pathogenic rs137853583 GRCh38 Chromosome 19, 34394044: 34394044
5 GPI NM_000175.4(GPI): c.1574T> C (p.Ile525Thr) single nucleotide variant Pathogenic rs137853584 GRCh37 Chromosome 19, 34890838: 34890838
6 GPI NM_000175.4(GPI): c.1574T> C (p.Ile525Thr) single nucleotide variant Pathogenic rs137853584 GRCh38 Chromosome 19, 34399933: 34399933
7 GPI NM_000175.4(GPI): c.1615G> A (p.Asp539Asn) single nucleotide variant Pathogenic rs137853585 GRCh37 Chromosome 19, 34890879: 34890879
8 GPI NM_000175.4(GPI): c.1615G> A (p.Asp539Asn) single nucleotide variant Pathogenic rs137853585 GRCh38 Chromosome 19, 34399974: 34399974
9 GPI NM_000175.4(GPI): c.671C> T (p.Thr224Met) single nucleotide variant Pathogenic rs61754634 GRCh37 Chromosome 19, 34869876: 34869876
10 GPI NM_000175.4(GPI): c.671C> T (p.Thr224Met) single nucleotide variant Pathogenic rs61754634 GRCh38 Chromosome 19, 34378971: 34378971
11 GPI NM_000175.4(GPI): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs267606851 GRCh37 Chromosome 19, 34884937: 34884937
12 GPI NM_000175.4(GPI): c.1028A> G (p.Gln343Arg) single nucleotide variant Pathogenic rs267606851 GRCh38 Chromosome 19, 34394032: 34394032
13 GPI NM_000175.4(GPI): c.14C> T (p.Thr5Ile) single nucleotide variant Pathogenic rs267606852 GRCh37 Chromosome 19, 34856185: 34856185
14 GPI NM_000175.4(GPI): c.14C> T (p.Thr5Ile) single nucleotide variant Pathogenic rs267606852 GRCh38 Chromosome 19, 34365280: 34365280
15 GPI NM_000175.4(GPI): c.1124C> G (p.Thr375Arg) single nucleotide variant Pathogenic rs267606853 GRCh37 Chromosome 19, 34887267: 34887267
16 GPI NM_000175.4(GPI): c.1124C> G (p.Thr375Arg) single nucleotide variant Pathogenic rs267606853 GRCh38 Chromosome 19, 34396362: 34396362

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...

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