NSHA
MCID: ANM045
MIFTS: 39

Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency (NSHA)

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

Aliases & Classifications for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

MalaCards integrated aliases for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:

Name: Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 58 30 6
Favism 58 12 13 56 45 15 74
Favism, Susceptibility to 58 41
Anemia, Non-Spherocytic Hemolytic, Due to G6pd Deficiency 76
Class I Glucose-6-Phosphate Dehydrogenase Deficiency 60
Severe Hemolytic Anemia Due to G6pd Deficiency 60
Hemolytic Anemia, G6pd Deficient 58
Class I G6pd Deficiency 60
Nsha 76

Characteristics:

OMIM:

58
Inheritance:
x-linked dominant

Miscellaneous:
anemia may follow ingestion of fava beans (vicia faba) or treatment with antimalarial drugs such as primaquine
g6pd deficiency prevalence is increased in greece, italy, the middle east, and north africa, thailand, and china


HPO:

33
anemia, nonspherocytic hemolytic, due to g6pd deficiency:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13628
OMIM 58 300908
NCIt 51 C34607
SNOMED-CT 69 76500009
ICD10 34 D55.0
Orphanet 60 ORPHA466026
UMLS 74 C0015702

Summaries for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

OMIM : 58 G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see 611162) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008). (300908)

MalaCards based summary : Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency, also known as favism, is related to glucosephosphate dehydrogenase deficiency and methemoglobinemia. An important gene associated with Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency is G6PD (Glucose-6-Phosphate Dehydrogenase), and among its related pathways/superpathways are Protein-protein interactions at synapses and ATM Signaling Network in Development and Disease. Affiliated tissues include neutrophil and testis, and related phenotypes are pallor and hemoglobinuria

Disease Ontology : 12 A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.

UniProtKB/Swiss-Prot : 76 Anemia, non-spherocytic hemolytic, due to G6PD deficiency: A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life.

Related Diseases for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Diseases related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 glucosephosphate dehydrogenase deficiency 30.8 G6PD HP
2 methemoglobinemia 30.2 G6PD HP
3 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 11.3
4 hemolytic anemia 10.3
5 thalassemia 10.3
6 blackwater fever 10.1 G6PD HP
7 bilirubin metabolic disorder 10.1 G6PD HP
8 congenital hemolytic anemia 10.0 G6PD HP
9 plasmodium falciparum malaria 10.0 G6PD HP
10 malaria 10.0
11 beta-thalassemia 10.0
12 syncope 10.0
13 alpha-thalassemia 10.0 G6PD HP
14 parasitic protozoa infectious disease 9.9 FARSA HP
15 hereditary spherocytosis 9.9 EPB41 G6PD
16 deficiency anemia 9.8 G6PD HP

Graphical network of the top 20 diseases related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:



Diseases related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Symptoms & Phenotypes for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Human phenotypes related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 pallor 33 HP:0000980
2 hemoglobinuria 33 HP:0003641
3 reticulocytosis 33 HP:0001923
4 leukocytosis 33 HP:0001974
5 unconjugated hyperbilirubinemia 33 HP:0008282
6 prolonged neonatal jaundice 33 HP:0006579
7 poikilocytosis 33 HP:0004447
8 anisocytosis 33 HP:0011273
9 fava bean-induced hemolytic anemia 33 HP:0004814

Symptoms via clinical synopsis from OMIM:

58
Metabolic Features:
fever

Abdomen:
abdominal pain

Abdomen Liver:
jaundice

Abdomen Spleen:
splenomegaly (in some patients)

Skin Nails Hair Skin:
pallor
jaundice

Laboratory Abnormalities:
hemoglobinuria
hyperbilirubinemia
glucose-6-phosphate dehydrogenase (g6pd) deficiency
elevated serum unconjugated bilirubin

Hematology:
reticulocytosis
poikilocytosis
anisocytosis
hemolytic anemia, acute (drug-induced or following ingestion of fava beans)
heinz bodies seen on methyl violet staining
more

Clinical features from OMIM:

300908

Drugs & Therapeutics for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Search Clinical Trials , NIH Clinical Center for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Cochrane evidence based reviews: favism

Genetic Tests for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Genetic tests related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:

# Genetic test Affiliating Genes
1 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 30 CASK G6PD

Anatomical Context for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

MalaCards organs/tissues related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:

42
Neutrophil, Testis

Publications for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Articles related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:

# Title Authors Year
1
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. ( 29298156 )
2018
2
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. ( 29539289 )
2018
3
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. ( 29542307 )
2018
4
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. ( 29542310 )
2018
5
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. ( 29542311 )
2018
6
Evaluating of β-carotene role in ameliorating of favism-induced disturbances in blood and testis. ( 29570451 )
2018
7
Supplementation of α-Tocopherol Attenuates Minerals Disturbance, Oxidative Stress and Apoptosis Occurring in Favism. ( 29062176 )
2017
8
The first case of a class I glucose-6-phosphate dehydrogenase deficiency, G6PD Santiago de Cuba (1339 G > A), in a Chinese population as found in a survey for G6PD deficiency in northeastern and central China. ( 20200584 )
2010
9
Favism-inducing toxins in broad beans (Vicia faba). Determination of vicine content and investigation of other non-protein nitrogenous compounds in different broad bean cultivars. ( 642461 )
1978

Variations for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:

76 (show top 50) (show all 61)
# Symbol AA change Variation ID SNP ID
1 G6PD p.His32Arg VAR_002451 rs137852340
2 G6PD p.Ala44Gly VAR_002453 rs78478128
3 G6PD p.Ile48Thr VAR_002454 rs76645461
4 G6PD p.Asp58Asn VAR_002455 rs137852315
5 G6PD p.Val68Met VAR_002456 rs1050828
6 G6PD p.Tyr70His VAR_002457 rs137852349
7 G6PD p.Leu75Pro VAR_002458
8 G6PD p.Arg81His VAR_002459 rs782308266
9 G6PD p.Arg81Cys VAR_002460 rs138687036
10 G6PD p.Ser106Cys VAR_002461 rs267606835
11 G6PD p.Leu128Pro VAR_002463 rs78365220
12 G6PD p.Glu156Lys VAR_002465 rs137852313
13 G6PD p.Gly163Ser VAR_002466 rs137852314
14 G6PD p.Gly163Asp VAR_002467
15 G6PD p.Asn165Asp VAR_002468 rs137852331
16 G6PD p.Arg166His VAR_002469
17 G6PD p.Asp176Gly VAR_002470
18 G6PD p.Asp181Val VAR_002471 rs5030872
19 G6PD p.Arg182Trp VAR_002472 rs267606836
20 G6PD p.Ser188Phe VAR_002473 rs5030868
21 G6PD p.Arg198Cys VAR_002474 rs137852330
22 G6PD p.Arg198Pro VAR_002475 rs137852332
23 G6PD p.Met212Val VAR_002476 rs782754619
24 G6PD p.Val213Leu VAR_002477 rs137852326
25 G6PD p.Phe216Leu VAR_002478 rs137852319
26 G6PD p.Arg227Gln VAR_002479 rs137852328
27 G6PD p.Arg227Leu VAR_002480 rs137852328
28 G6PD p.Arg257Gly VAR_002482
29 G6PD p.Glu274Lys VAR_002483
30 G6PD p.Ser278Phe VAR_002484
31 G6PD p.Thr279Ser VAR_002485
32 G6PD p.Asp282His VAR_002486 rs137852318
33 G6PD p.Arg285His VAR_002487 rs74575103
34 G6PD p.Val291Met VAR_002488 rs137852327
35 G6PD p.Glu317Lys VAR_002489 rs137852339
36 G6PD p.Leu323Pro VAR_002490 rs76723693
37 G6PD p.Ala335Thr VAR_002491 rs5030869
38 G6PD p.Pro353Ser VAR_002493 rs137852333
39 G6PD p.Asn363Lys VAR_002494 rs137852329
40 G6PD p.Cys385Arg VAR_002495 rs137852322
41 G6PD p.Lys386Glu VAR_002496 rs137852320
42 G6PD p.Arg387His VAR_002497 rs137852321
43 G6PD p.Arg387Cys VAR_002498 rs137852334
44 G6PD p.Arg393His VAR_002499 rs137852316
45 G6PD p.Val394Leu VAR_002500 rs137852335
46 G6PD p.Pro396Leu VAR_002501
47 G6PD p.Glu398Lys VAR_002502 rs137852325
48 G6PD p.Gly410Cys VAR_002503 rs137852323
49 G6PD p.Gly410Asp VAR_002504 rs137852336
50 G6PD p.Glu416Lys VAR_002505

ClinVar genetic disease variations for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency:

6 (show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 G6PD NM_001042351.2(G6PD): c.1288-10_1288-9delTC deletion Conflicting interpretations of pathogenicity rs199586268 GRCh37 Chromosome X, 153760686: 153760687
2 G6PD NM_001042351.2(G6PD): c.1288-10_1288-9delTC deletion Conflicting interpretations of pathogenicity rs199586268 GRCh38 Chromosome X, 154532471: 154532472
3 G6PD NM_000402.4(G6PD): c.466A> G (p.Asn156Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1050829 GRCh37 Chromosome X, 153763492: 153763492
4 G6PD NM_000402.4(G6PD): c.466A> G (p.Asn156Asp) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1050829 GRCh38 Chromosome X, 154535277: 154535277
5 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh37 Chromosome X, 153764217: 153764217
6 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh38 Chromosome X, 154536002: 154536002
7 G6PD NM_000402.4(G6PD): c.1093G> A (p.Ala365Thr) single nucleotide variant Pathogenic rs5030869 GRCh37 Chromosome X, 153761205: 153761205
8 G6PD NM_000402.4(G6PD): c.1093G> A (p.Ala365Thr) single nucleotide variant Pathogenic rs5030869 GRCh38 Chromosome X, 154532990: 154532990
9 G6PD NM_000402.4(G6PD): c.577G> A (p.Gly193Ser) single nucleotide variant Pathogenic rs137852314 GRCh37 Chromosome X, 153762710: 153762710
10 G6PD NM_000402.4(G6PD): c.577G> A (p.Gly193Ser) single nucleotide variant Pathogenic rs137852314 GRCh38 Chromosome X, 154534495: 154534495
11 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Conflicting interpretations of pathogenicity, other rs5030868 GRCh37 Chromosome X, 153762634: 153762634
12 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Conflicting interpretations of pathogenicity, other rs5030868 GRCh38 Chromosome X, 154534419: 154534419
13 G6PD NM_000402.4(G6PD): c.1268G> A (p.Arg423His) single nucleotide variant Pathogenic rs137852316 GRCh37 Chromosome X, 153760891: 153760891
14 G6PD NM_000402.4(G6PD): c.1268G> A (p.Arg423His) single nucleotide variant Pathogenic rs137852316 GRCh38 Chromosome X, 154532676: 154532676
15 G6PD NM_000402.4(G6PD): c.1429G> A (p.Gly477Arg) single nucleotide variant Pathogenic rs137852317 GRCh37 Chromosome X, 153760626: 153760626
16 G6PD NM_000402.4(G6PD): c.1429G> A (p.Gly477Arg) single nucleotide variant Pathogenic rs137852317 GRCh38 Chromosome X, 154532411: 154532411
17 G6PD NM_000402.4(G6PD): c.934G> C (p.Asp312His) single nucleotide variant Pathogenic rs137852318 GRCh37 Chromosome X, 153761811: 153761811
18 G6PD NM_000402.4(G6PD): c.934G> C (p.Asp312His) single nucleotide variant Pathogenic rs137852318 GRCh38 Chromosome X, 154533596: 154533596
19 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh37 Chromosome X, 153760484: 153760484
20 G6PD NM_000402.4(G6PD): c.1466G> T (p.Arg489Leu) single nucleotide variant Pathogenic rs72554665 GRCh38 Chromosome X, 154532269: 154532269
21 G6PD NM_000402.4(G6PD): c.1192G> A (p.Glu398Lys) single nucleotide variant Pathogenic rs387906468 GRCh37 Chromosome X, 153760967: 153760967
22 G6PD NM_000402.4(G6PD): c.1192G> A (p.Glu398Lys) single nucleotide variant Pathogenic rs387906468 GRCh38 Chromosome X, 154532752: 154532752
23 G6PD NM_000402.4(G6PD): c.632A> T (p.Asp211Val) single nucleotide variant Pathogenic rs5030872 GRCh37 Chromosome X, 153762655: 153762655
24 G6PD NM_000402.4(G6PD): c.632A> T (p.Asp211Val) single nucleotide variant Pathogenic rs5030872 GRCh38 Chromosome X, 154534440: 154534440
25 G6PD NM_000402.4(G6PD): c.727G> T (p.Val243Leu) single nucleotide variant Pathogenic rs137852326 GRCh37 Chromosome X, 153762560: 153762560
26 G6PD NM_000402.4(G6PD): c.727G> T (p.Val243Leu) single nucleotide variant Pathogenic rs137852326 GRCh38 Chromosome X, 154534345: 154534345
27 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh37 Chromosome X, 153761337: 153761337
28 G6PD NM_000402.4(G6PD): c.961G> A (p.Val321Met) single nucleotide variant Pathogenic rs137852327 GRCh38 Chromosome X, 154533122: 154533122
29 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh37 Chromosome X, 153761240: 153761240
30 G6PD NM_000402.4(G6PD): c.1058T> C (p.Leu353Pro) single nucleotide variant Pathogenic rs76723693 GRCh38 Chromosome X, 154533025: 154533025
31 G6PD NM_000402.4(G6PD): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs72554664 GRCh37 Chromosome X, 153760472: 153760472
32 G6PD NM_000402.4(G6PD): c.1478G> A (p.Arg493His) single nucleotide variant Pathogenic rs72554664 GRCh38 Chromosome X, 154532257: 154532257
33 G6PD NM_000402.4(G6PD): c.1179C> A (p.Asn393Lys) single nucleotide variant Pathogenic rs137852329 GRCh37 Chromosome X, 153760980: 153760980
34 G6PD NM_000402.4(G6PD): c.1179C> A (p.Asn393Lys) single nucleotide variant Pathogenic rs137852329 GRCh38 Chromosome X, 154532765: 154532765
35 G6PD NM_000402.4(G6PD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic/Likely pathogenic rs137852331 GRCh37 Chromosome X, 153762704: 153762704
36 G6PD NM_000402.4(G6PD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic/Likely pathogenic rs137852331 GRCh38 Chromosome X, 154534489: 154534489
37 G6PD NM_000402.4(G6PD): c.683G> C (p.Arg228Pro) single nucleotide variant Pathogenic rs137852332 GRCh37 Chromosome X, 153762604: 153762604
38 G6PD NM_000402.4(G6PD): c.683G> C (p.Arg228Pro) single nucleotide variant Pathogenic rs137852332 GRCh38 Chromosome X, 154534389: 154534389
39 G6PD NM_000402.4(G6PD): c.1249C> T (p.Arg417Cys) single nucleotide variant Pathogenic rs137852334 GRCh37 Chromosome X, 153760910: 153760910
40 G6PD NM_000402.4(G6PD): c.1249C> T (p.Arg417Cys) single nucleotide variant Pathogenic rs137852334 GRCh38 Chromosome X, 154532695: 154532695
41 G6PD NM_000402.4(G6PD): c.1270G> C (p.Val424Leu) single nucleotide variant Pathogenic rs137852335 GRCh37 Chromosome X, 153760889: 153760889
42 G6PD NM_000402.4(G6PD): c.1270G> C (p.Val424Leu) single nucleotide variant Pathogenic rs137852335 GRCh38 Chromosome X, 154532674: 154532674
43 G6PD NM_000402.4(G6PD): c.1319G> A (p.Gly440Asp) single nucleotide variant Pathogenic rs137852336 GRCh37 Chromosome X, 153760840: 153760840
44 G6PD NM_000402.4(G6PD): c.1319G> A (p.Gly440Asp) single nucleotide variant Pathogenic rs137852336 GRCh38 Chromosome X, 154532625: 154532625
45 G6PD NM_000402.4(G6PD): c.1406G> C (p.Arg469Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137852337 GRCh37 Chromosome X, 153760649: 153760649
46 G6PD NM_000402.4(G6PD): c.1406G> C (p.Arg469Pro) single nucleotide variant Pathogenic/Likely pathogenic rs137852337 GRCh38 Chromosome X, 154532434: 154532434
47 G6PD NM_000402.4(G6PD): c.193_195delATC (p.Ile66del) deletion Pathogenic rs137852338 GRCh37 Chromosome X, 153774266: 153774268
48 G6PD NM_000402.4(G6PD): c.193_195delATC (p.Ile66del) deletion Pathogenic rs137852338 GRCh38 Chromosome X, 154546051: 154546053
49 G6PD NM_000402.4(G6PD): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs76645461 GRCh37 Chromosome X, 153764371: 153764371
50 G6PD NM_000402.4(G6PD): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs76645461 GRCh38 Chromosome X, 154536156: 154536156

Expression for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Search GEO for disease gene expression data for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency.

Pathways for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Pathways related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.27 CASK EPB41
2 10.62 G6PD IKBKG
3 10.14 CASK EPB41

GO Terms for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

Cellular components related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of plasma membrane GO:0009898 8.62 EPB41 G6PD

Biological processes related to Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to oxidative stress GO:0034599 8.96 G6PD GPX8
2 cellular oxidant detoxification GO:0098869 8.62 GPX8 HP

Sources for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

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