NSHA
MCID: ANM045
MIFTS: 50

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 57 29 6
Favism 57 12 54 44 15 70
Hemolytic Anemia, G6pd Deficient 57 6
Favism, Susceptibility to 57 39
Anemia, Non-Spherocytic Hemolytic, Due to G6pd Deficiency 72
Class I Glucose-6-Phosphate Dehydrogenase Deficiency 58
Severe Hemolytic Anemia Due to G6pd Deficiency 58
G6pd Deficient Hemolytic Anemia 6
Class I G6pd Deficiency 58
Nsha 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
anemia, nonspherocytic hemolytic, due to g6pd deficiency:
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:13628
OMIM® 57 300908
NCIt 50 C34607
SNOMED-CT 67 154801000
ICD10 32 D55.0
ICD10 via Orphanet 33 D55.0
Orphanet 58 ORPHA466026
UMLS 70 C0015702

Summaries for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency, also known as favism, is related to glucosephosphate dehydrogenase deficiency and hemolytic anemia, nonspherocytic, due to hexokinase deficiency. 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 Metabolism and Pathways of neurodegeneration - multiple diseases. The drugs Primaquine and Antiparasitic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, neutrophil and bone marrow, and related phenotypes are splenomegaly and fever

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

UniProtKB/Swiss-Prot : 72 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 47)
# Related Disease Score Top Affiliating Genes
1 glucosephosphate dehydrogenase deficiency 30.9 LY6G6D LCT IKBKG HP G6PD CASK
2 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 11.1
3 hemolytic anemia 10.5
4 deficiency anemia 10.4
5 hemoglobinuria 10.3
6 thalassemia 10.3
7 immunodeficiency without anhidrotic ectodermal dysplasia 10.3 IKBKG G6PD
8 pharyngeal-cervical-brachial variant of guillain-barre syndrome 10.3 HP ACP1
9 alacrima, achalasia, and mental retardation syndrome 10.3
10 mental retardation, autosomal dominant 45 10.3
11 autosomal dominant non-syndromic intellectual disability 10.3
12 x-linked recessive disease 10.3
13 plasmodium falciparum malaria 10.3
14 ectodermal dysplasia and immunodeficiency 1 10.2 IKBKG G6PD
15 trimethoprim allergy 10.2 HP G6PD
16 blackwater fever 10.2 HP G6PD
17 acute kidney failure 10.2
18 anemia, congenital dyserythropoietic, type ib 10.2 HP G6PD
19 xq28 duplication syndrome, int22h1/int22h2 mediated 10.1 RAB39B CLIC2
20 kidney disease 10.1
21 chromosome xq28 duplication syndrome 10.1 RAB39B CLIC2
22 anemia, autoimmune hemolytic 10.1 HP G6PD
23 bilirubin metabolic disorder 10.1
24 photokeratitis 10.0 GPX8 GPX6 GPX5
25 pigmentation disease 10.0 IKBKG G6PD
26 carbohydrate metabolic disorder 10.0 LCT HP GRHPR
27 developmental and epileptic encephalopathy 8 9.9 RAB39B IKBKG CLIC2 CASK
28 ileocolitis 9.9 GPX3 GPX2
29 pernicious anemia 9.8
30 glycogen storage disease ia 9.8
31 sickle cell anemia 9.8
32 alpha-thalassemia 9.8
33 coronary heart disease 1 9.8
34 malaria 9.8
35 cyanosis, transient neonatal 9.8
36 beta-thalassemia 9.8
37 thalassemia minor 9.8
38 methemoglobinemia 9.8
39 acute kidney tubular necrosis 9.8
40 neonatal jaundice 9.8
41 glycogen storage disease 9.8
42 hemoglobinopathy 9.8
43 congenital nonspherocytic hemolytic anemia 9.8
44 diabetes mellitus 9.8
45 48,xyyy 9.8
46 lathyrism 9.8
47 syncope 9.8

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 very rare (1%) HP:0001744
2 fever 31 HP:0001945
3 pallor 31 HP:0000980
4 abdominal pain 31 HP:0002027
5 reticulocytosis 31 HP:0001923
6 prolonged neonatal jaundice 31 HP:0006579
7 leukocytosis 31 HP:0001974
8 unconjugated hyperbilirubinemia 31 HP:0008282
9 hemoglobinuria 31 HP:0003641
10 anisocytosis 31 HP:0011273
11 poikilocytosis 31 HP:0004447
12 heinz bodies 31 HP:0020082
13 fava bean-induced hemolytic anemia 31 HP:0004814

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Metabolic Features:
fever

Abdomen Liver:
jaundice

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

Skin Nails Hair Skin:
pallor
jaundice

Abdomen:
abdominal pain

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

Clinical features from OMIM®:

300908 (Updated 20-May-2021)

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

Drugs for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Primaquine Approved 90-34-6 4908
2 Antiparasitic Agents
3 Antimalarials
4 Antiprotozoal Agents
5 Anti-Infective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A New Test to Predict the Hemolytic Potential of Drugs in G6PD Deficiency Completed NCT00076323 Primaquine

Search 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 29 CASK G6PD

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

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

40
Kidney, Neutrophil, Bone Marrow, Spleen, Heart, Testis, Monocytes

Publications for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

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

(show top 50) (show all 630)
# Title Authors PMID Year
1
Glucose-6-Phosphate Dehydrogenase Deficiency. 57 6
27040960 2016
2
Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. 6 57
10666231 2000
3
G6PD deficiency. 57 6
7949118 1994
4
Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene. 54 6 61
8956035 1996
5
At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria. 6 54 61
7959686 1994
6
G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism. 54 6 61
8490627 1993
7
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. 57 61
29298156 2018
8
Favism, the commonest form of severe hemolytic anemia in Palestinian children, varies in severity with three different variants of G6PD deficiency within the same community. 6 61
27519946 2016
9
Unsuspected glucose-6-phosphate dehydrogenase deficiency presenting as symptomatic methemoglobinemia with severe hemolysis after fava bean ingestion in a 6-year-old boy. 6 61
21479984 2011
10
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. 61 6
3393536 1988
11
Favism: association with erythrocyte acid phosphatase phenotype. 61 57
5538937 1971
12
On the familial predisposition to favism. 57 61
5944419 1966
13
Assessment of glucose-6-phosphate dehydrogenase activity using CareStart G6PD rapid diagnostic test and associated genetic variants in Plasmodium vivax malaria endemic setting in Mauritania. 6
31525211 2019
14
Analysis of Glucose-6-Phosphate Dehydrogenase Genetic Polymorphism in the Hakka Population in Southern China. 6
30315739 2018
15
High resolution melting curve analysis enables rapid and reliable detection of G6PD variants in heterozygous females. 6
30097005 2018
16
Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian. 6
30045279 2018
17
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates. 6
29339739 2018
18
Biochemical Analysis of Two Single Mutants that Give Rise to a Polymorphic G6PD A-Double Mutant. 6
29072585 2017
19
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
20
Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PDViangchan and G6PDViangchan+Mahidol: Decreased stability and catalytic efficiency contribute to the clinical phenotype. 6
27053284 2016
21
Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan. 6
27213370 2016
22
[Molecular epidemiology of G6PD deficiency in Chaozhou area of eastern Guangdong Province]. 6
26829728 2016
23
Molecular Analysis of Glucose-6-Phosphate Dehydrogenase Gene Mutations in Bangladeshi Individuals. 6
27880809 2016
24
Molecular Characterization of G6PD Deficient Variants in Nineveh Province, Northwestern Iraq. 6
25548459 2015
25
Prevalence and Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency at the China-Myanmar Border. 6
26226515 2015
26
Large cohort screening of G6PD deficiency and the mutational spectrum in the Dongguan District in Southern China. 6
25775246 2015
27
Molecular epidemiological investigation of G6PD deficiency by a gene chip among Chinese Hakka of southern Jiangxi province. 6
26823837 2015
28
Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya. 6
25201310 2014
29
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening. 6
24460025 2014
30
A population survey of the glucose-6-phosphate dehydrogenase (G6PD) 563C>T (Mediterranean) mutation in Afghanistan. 6
24586352 2014
31
Field trial evaluation of the performances of point-of-care tests for screening G6PD deficiency in Cambodia. 6
25541721 2014
32
A randomized comparison of dihydroartemisinin-piperaquine and artesunate-amodiaquine combined with primaquine for radical treatment of vivax malaria in Sumatera, Indonesia. 6
23926329 2013
33
Impact of glucose-6-phosphate dehydrogenase deficiency on sickle cell anaemia expression in infancy and early childhood: a prospective study. 6
24117340 2013
34
Identification of Mutation of Glucose-6-Phosphate Dehy-drogenase (G6PD) in Iran: Meta- analysis Study. 6
26060661 2013
35
Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency. 6
23965028 2013
36
Glucose-6-phosphate dehydrogenase deficient variants are associated with reduced susceptibility to malaria in the Brazilian Amazon. 6
23479361 2013
37
Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia. 6
22963789 2013
38
Prevalence of G6PD Deficiency in Iran. 6
24505519 2013
39
Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity. 6
23006493 2012
40
Neonatal hyperbilirubinemia in infants with G6PD c.563C > T Variant. 6
22906047 2012
41
Glucose-6-phosphate dehydrogenase qingzhen: identification of a novel splice mutation (IVS5-1 G>A). 6
21989994 2012
42
Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations. 6
22293322 2012
43
G6PD genotype and its associated enzymatic activity in a Chinese population. 6
21874587 2012
44
Candidate human genetic polymorphisms and severe malaria in a Tanzanian population. 6
23144702 2012
45
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency among Jordanians. 6
22906837 2012
46
Enzyme kinetics and molecular modeling studies of G6PD(Mahidol) associated with acute hemolytic anemia. 6
22165289 2011
47
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Jeddah, Kingdom of Saudi Arabia. 6
22018328 2011
48
Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi. 6
21302115 2011
49
Molecular identification of G6PD Chatham (G1003A) in Khuzestan province of Iran. 6
21677401 2011
50
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. 6
21153663 2011

Variations for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

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

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 G6PD NM_000402.4(G6PD):c.683G>C (p.Arg228Pro) SNV Pathogenic 10394 rs137852332 GRCh37: X:153762604-153762604
GRCh38: X:154534389-154534389
2 G6PD NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys) SNV Pathogenic 10396 rs137852334 GRCh37: X:153760910-153760910
GRCh38: X:154532695-154532695
3 G6PD NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) SNV Pathogenic 10397 rs137852335 GRCh37: X:153760889-153760889
GRCh38: X:154532674-154532674
4 G6PD NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp) SNV Pathogenic 10398 rs137852336 GRCh37: X:153760840-153760840
GRCh38: X:154532625-154532625
5 G6PD NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) SNV Pathogenic 10399 rs137852337 GRCh37: X:153760649-153760649
GRCh38: X:154532434-154532434
6 G6PD NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr) SNV Pathogenic 10412 rs137852346 GRCh37: X:153761849-153761849
GRCh38: X:154533634-154533634
7 G6PD NM_000402.4(G6PD):c.1268G>A (p.Arg423His) SNV Pathogenic 10370 rs137852316 GRCh37: X:153760891-153760891
GRCh38: X:154532676-154532676
8 G6PD NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys) SNV Pathogenic 10381 rs387906468 GRCh37: X:153760967-153760967
GRCh38: X:154532752-154532752
9 G6PD NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys) SNV Pathogenic 10390 rs137852329 GRCh37: X:153760980-153760980
GRCh38: X:154532765-154532765
10 G6PD NM_000402.4(G6PD):c.1054T>C (p.Tyr352His) SNV Pathogenic 10414 rs137852347 GRCh37: X:153761244-153761244
GRCh38: X:154533029-154533029
11 G6PD G6PD Amsterdam Deletion Pathogenic 10419 GRCh37:
GRCh38:
12 G6PD NM_000402.4(G6PD):c.1172C>T (p.Ala391Val) SNV Pathogenic 10410 rs137852345 GRCh37: X:153760987-153760987
GRCh38: X:154532772-154532772
13 G6PD NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) SNV Pathogenic 10393 rs137852331 GRCh37: X:153762704-153762704
GRCh38: X:154534489-154534489
14 G6PD NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter) SNV Pathogenic 804133 rs1603411214 GRCh37: X:153760482-153760482
GRCh38: X:154532267-154532267
15 G6PD NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys) SNV Pathogenic 804134 rs137852325 GRCh37: X:153760877-153760877
GRCh38: X:154532662-154532662
16 G6PD NM_000402.4(G6PD):c.683G>A (p.Arg228His) SNV Pathogenic 10417 rs137852332 GRCh37: X:153762604-153762604
GRCh38: X:154534389-154534389
17 G6PD NM_000402.4(G6PD):c.607T>C (p.Phe203Leu) SNV Pathogenic 10407 rs137852343 GRCh37: X:153762680-153762680
GRCh38: X:154534465-154534465
18 G6PD NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) SNV Pathogenic 10422 rs72554665 GRCh37: X:153760484-153760484
GRCh38: X:154532269-154532269
19 G6PD NM_001360016.2(G6PD):c.1347G>C (p.Gln449His) SNV Pathogenic 958165 GRCh37: X:153760618-153760618
GRCh38: X:154532403-154532403
20 G6PD G6PD NARA Deletion Pathogenic 10411 rs587776730 GRCh37: X:153761228-153761251
GRCh38: X:154533013-154533036
21 G6PD NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg) SNV Pathogenic 968939 GRCh37: X:153763485-153763485
GRCh38: X:154535270-154535270
22 G6PD NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr) SNV Pathogenic 854215 GRCh37: X:153763464-153763464
GRCh38: X:154535249-154535249
23 G6PD NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) SNV Pathogenic 10367 rs137852314 GRCh37: X:153762710-153762710
GRCh38: X:154534495-154534495
24 G6PD NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) SNV Pathogenic 10367 rs137852314 GRCh37: X:153762710-153762710
GRCh38: X:154534495-154534495
25 G6PD , IKBKG NM_000402.4(G6PD):c.193_195delATC (p.Ile66del) Microsatellite Pathogenic 10400 rs137852338 GRCh37: X:153774261-153774263
GRCh38: X:154546046-154546048
26 CASK NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) SNV Pathogenic 434588 rs886128077 GRCh37: X:41495900-41495900
GRCh38: X:41636647-41636647
27 G6PD NM_000402.4(G6PD):c.292G>A (p.Val98Met) SNV Pathogenic 37123 rs1050828 GRCh37: X:153764217-153764217
GRCh38: X:154536002-154536002
28 G6PD NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) SNV Pathogenic 93493 rs398123546 GRCh37: X:153760605-153760605
GRCh38: X:154532390-154532390
29 G6PD NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) SNV Pathogenic 100058 rs72554665 GRCh37: X:153760484-153760484
GRCh38: X:154532269-154532269
30 G6PD NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) SNV Pathogenic 10371 rs137852317 GRCh37: X:153760626-153760626
GRCh38: X:154532411-154532411
31 G6PD NM_000402.4(G6PD):c.934G>C (p.Asp312His) SNV Pathogenic 10372 rs137852318 GRCh37: X:153761811-153761811
GRCh38: X:154533596-154533596
32 G6PD NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) SNV Pathogenic 10363 rs5030869 GRCh37: X:153761205-153761205
GRCh38: X:154532990-154532990
33 G6PD NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) SNV Pathogenic 100057 rs5030868 GRCh37: X:153762634-153762634
GRCh38: X:154534419-154534419
34 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) SNV Pathogenic 100055 rs1050829 GRCh37: X:153763492-153763492
GRCh38: X:154535277-154535277
35 G6PD NM_000402.4(G6PD):c.1478G>A (p.Arg493His) SNV Pathogenic 100059 rs72554664 GRCh37: X:153760472-153760472
GRCh38: X:154532257-154532257
36 G6PD NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) SNV Pathogenic 10363 rs5030869 GRCh37: X:153761205-153761205
GRCh38: X:154532990-154532990
37 G6PD NM_000402.4(G6PD):c.961G>A (p.Val321Met) SNV Pathogenic 10386 rs137852327 GRCh37: X:153761337-153761337
GRCh38: X:154533122-154533122
38 G6PD NM_000402.4(G6PD):c.934G>C (p.Asp312His) SNV Pathogenic 10372 rs137852318 GRCh37: X:153761811-153761811
GRCh38: X:154533596-154533596
39 G6PD NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro) SNV Pathogenic 93499 rs78365220 GRCh37: X:153763485-153763485
GRCh38: X:154535270-154535270
40 G6PD NM_000402.4(G6PD):c.1478G>A (p.Arg493His) SNV Pathogenic 100059 rs72554664 GRCh37: X:153760472-153760472
GRCh38: X:154532257-154532257
41 G6PD NM_000402.4(G6PD):c.632A>T (p.Asp211Val) SNV Pathogenic 37203 rs5030872 GRCh37: X:153762655-153762655
GRCh38: X:154534440-154534440
42 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) SNV Pathogenic 100055 rs1050829 GRCh37: X:153763492-153763492
GRCh38: X:154535277-154535277
43 G6PD NM_000402.4(G6PD):c.292G>A (p.Val98Met) SNV Pathogenic 37123 rs1050828 GRCh37: X:153764217-153764217
GRCh38: X:154536002-154536002
44 G6PD NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) SNV Pathogenic 100057 rs5030868 GRCh37: X:153762634-153762634
GRCh38: X:154534419-154534419
45 G6PD NM_000402.4(G6PD):c.961G>A (p.Val321Met) SNV Pathogenic 10386 rs137852327 GRCh37: X:153761337-153761337
GRCh38: X:154533122-154533122
46 G6PD NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) SNV Pathogenic 100057 rs5030868 GRCh37: X:153762634-153762634
GRCh38: X:154534419-154534419
47 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) SNV Pathogenic 1065168 rs1050829 GRCh37: X:153763492-153763492
GRCh38: X:154535277-154535277
48 G6PD NM_000402.4(G6PD):c.961G>A (p.Val321Met) SNV Pathogenic/Likely pathogenic 10386 rs137852327 GRCh37: X:153761337-153761337
GRCh38: X:154533122-154533122
49 G6PD NM_000402.4(G6PD):c.298T>C (p.Tyr100His) SNV Likely pathogenic 10416 rs137852349 GRCh37: X:153764211-153764211
GRCh38: X:154535996-154535996
50 G6PD NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) SNV Conflicting interpretations of pathogenicity 10402 rs76645461 GRCh37: X:153764371-153764371
GRCh38: X:154536156-154536156

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

72 (show top 50) (show all 58)
# 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.Arg198Pro VAR_002475 rs137852332
22 G6PD p.Met212Val VAR_002476 rs782754619
23 G6PD p.Val213Leu VAR_002477 rs137852326
24 G6PD p.Phe216Leu VAR_002478 rs137852319
25 G6PD p.Arg227Leu VAR_002480 rs137852328
26 G6PD p.Arg257Gly VAR_002482
27 G6PD p.Glu274Lys VAR_002483
28 G6PD p.Ser278Phe VAR_002484
29 G6PD p.Thr279Ser VAR_002485
30 G6PD p.Asp282His VAR_002486 rs137852318
31 G6PD p.Arg285His VAR_002487 rs74575103
32 G6PD p.Val291Met VAR_002488 rs137852327
33 G6PD p.Glu317Lys VAR_002489 rs137852339
34 G6PD p.Leu323Pro VAR_002490 rs76723693
35 G6PD p.Ala335Thr VAR_002491 rs5030869
36 G6PD p.Asn363Lys VAR_002494 rs137852329
37 G6PD p.Cys385Arg VAR_002495 rs137852322
38 G6PD p.Lys386Glu VAR_002496 rs137852320
39 G6PD p.Arg387His VAR_002497 rs137852321
40 G6PD p.Arg387Cys VAR_002498 rs137852334
41 G6PD p.Arg393His VAR_002499 rs137852316
42 G6PD p.Val394Leu VAR_002500 rs137852335
43 G6PD p.Pro396Leu VAR_002501 rs155722968
44 G6PD p.Glu398Lys VAR_002502 rs137852325
45 G6PD p.Gly410Cys VAR_002503 rs137852323
46 G6PD p.Gly410Asp VAR_002504 rs137852336
47 G6PD p.Glu416Lys VAR_002505
48 G6PD p.Arg439Pro VAR_002506 rs137852337
49 G6PD p.Leu440Phe VAR_002507 rs155722959
50 G6PD p.Gly447Arg VAR_002508 rs137852317

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
13.8 UQCRC1 TMLHE LCT GRHPR GPX8 GPX7
2
Show member pathways
13.1 UQCRC1 RAB39B GPX8 GPX7 GPX6 GPX5
3
Show member pathways
12.83 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
4
Show member pathways
12.5 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
5
Show member pathways
11.81 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
6 11.77 GPX3 GPX2 G6PD
7
Show member pathways
11.69 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
8
Show member pathways
10.84 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2

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

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 response to oxidative stress GO:0006979 9.73 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
2 oxidation-reduction process GO:0055114 9.65 UQCRC1 TMLHE GRHPR GPX8 GPX7 GPX6
3 cellular response to oxidative stress GO:0034599 9.63 GPX8 GPX7 GPX5 GPX3 GPX2 G6PD
4 negative regulation of oxidoreductase activity GO:0051354 9.32 TMLHE HP
5 cellular oxidant detoxification GO:0098869 9.23 HP GPX8 GPX7 GPX6 GPX5 GPX3

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.81 TMLHE GRHPR GPX8 GPX7 GPX6 GPX5
2 peroxidase activity GO:0004601 9.43 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
3 glutathione peroxidase activity GO:0004602 9.17 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2

Sources for Anemia, Nonspherocytic Hemolytic, Due to G6pd 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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