NSHA
MCID: ANM045
MIFTS: 49

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 56 29 6
Favism 56 12 54 43 15 71
Favism, Susceptibility to 56 39
Anemia, Non-Spherocytic Hemolytic, Due to G6pd Deficiency 73
Class I Glucose-6-Phosphate Dehydrogenase Deficiency 58
Severe Hemolytic Anemia Due to G6pd Deficiency 58
Hemolytic Anemia, G6pd Deficient 56
Class I G6pd Deficiency 58
Nsha 73

Characteristics:

OMIM:

56
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 56 300908
NCIt 49 C34607
SNOMED-CT 67 191172001
ICD10 32 D55.0
ICD10 via Orphanet 33 D55.0
Orphanet 58 ORPHA466026
UMLS 71 C0015702

Summaries for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

OMIM : 56 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 anemia, x-linked, with or without neutropenia and/or platelet abnormalities. 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 Parkinson disease. The drugs Primaquine and Antiparasitic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and neutrophil, 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 : 73 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 32.5 HP G6PD CLIC1 ACP1
2 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 31.2 HP G6PD
3 deficiency anemia 30.7 IKBKG HP G6PD
4 methemoglobinemia 29.9 HP G6PD
5 hemolytic anemia, nonspherocytic, due to hexokinase deficiency 11.5
6 hemolytic anemia 10.7
7 thalassemia 10.5
8 hemoglobinuria 10.5
9 acute kidney failure 10.4
10 kidney disease 10.4
11 immunodeficiency without anhidrotic ectodermal dysplasia 10.4 IKBKG G6PD
12 ectodermal dysplasia and immunodeficiency 1 10.3 IKBKG G6PD
13 invasive pneumococcal disease, recurrent isolated 10.3 IKBKG G6PD
14 pharyngeal-cervical-brachial variant of guillain-barre syndrome 10.3 HP ACP1
15 trimethoprim allergy 10.3 HP G6PD
16 anemia, congenital dyserythropoietic, type ib 10.3 HP G6PD
17 bilirubin metabolic disorder 10.3
18 pigmentation disease 10.2 IKBKG G6PD
19 malaria 10.2
20 blackwater fever 10.1 HP G6PD CLIC1
21 anemia, autoimmune hemolytic 10.1 HP G6PD
22 alacrima, achalasia, and mental retardation syndrome 10.1
23 mental retardation, autosomal dominant 45 10.1
24 autosomal dominant non-syndromic intellectual disability 10.1
25 x-linked recessive disease 10.1
26 plasmodium falciparum malaria 10.1
27 epileptic encephalopathy, early infantile, 8 10.1 IKBKG CLIC2 CASK
28 pernicious anemia 10.0
29 glycogen storage disease ia 10.0
30 sickle cell anemia 10.0
31 alpha-thalassemia 10.0
32 coronary heart disease 1 10.0
33 cyanosis, transient neonatal 10.0
34 beta-thalassemia 10.0
35 acute kidney tubular necrosis 10.0
36 neonatal jaundice 10.0
37 glycogen storage disease 10.0
38 hemoglobinopathy 10.0
39 congenital nonspherocytic hemolytic anemia 10.0
40 diabetes mellitus 10.0
41 48,xyyy 10.0
42 lathyrism 10.0
43 syncope 10.0
44 hyperoxaluria, primary, type ii 10.0 HP GRHPR
45 photokeratitis 9.9 GPX8 GPX6 GPX5
46 ileocolitis 9.7 GPX3 GPX2
47 carbohydrate metabolic disorder 9.6 LCT HP GRHPR G6PD

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 abdominal pain 31 HP:0002027
4 pallor 31 HP:0000980
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 poikilocytosis 31 HP:0004447
11 anisocytosis 31 HP:0011273
12 heinz bodies 31 HP:0020082
13 fava bean-induced hemolytic anemia 31 HP:0004814

Symptoms via clinical synopsis from OMIM:

56
Metabolic Features:
fever

Skin Nails Hair Skin:
pallor
jaundice

Hematology:
reticulocytosis
poikilocytosis
anisocytosis
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)

Abdomen:
abdominal pain

Abdomen Liver:
jaundice

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

Clinical features from OMIM:

300908

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 Antiprotozoal Agents
4 Anti-Infective Agents
5 Antimalarials

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, Testes, Neutrophil, Liver, Bone Marrow, Bone, Breast

Publications for Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency

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

(show top 50) (show all 504)
# Title Authors PMID Year
1
Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. 6 56
10666231 2000
2
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency. 56 61
29298156 2018
3
Favism: association with erythrocyte acid phosphatase phenotype. 56 61
5538937 1971
4
On the familial predisposition to favism. 61 56
5944419 1966
5
Glucose-6-Phosphate Dehydrogenase Deficiency. 56
27040960 2016
6
Glucose-6-phosphate dehydrogenase deficiency. 56
18177777 2008
7
Maternally transmitted severe glucose 6-phosphate dehydrogenase deficiency is an embryonic lethal. 56
12169625 2002
8
Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections. 6
12130518 2002
9
A single dose of Sn-mesoporphyrin prevents development of severe hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient newborns. 56
11433050 2001
10
A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes. 6
11112389 2000
11
Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia. 56
9674740 1998
12
X-linked Wiskott-Aldrich syndrome in a girl. 56
9634368 1998
13
X inactivation in females with X-linked disease. 56
9445416 1998
14
Mortality in a cohort of men expressing the glucose-6-phosphate dehydrogenase deficiency. 56
9427729 1998
15
Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency. 56
8808605 1996
16
Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes. 56
8579052 1996
17
Muscle expression of glucose-6-phosphate dehydrogenase deficiency in different variants. 56
8825599 1995
18
G6PD deficiency. 56
7949118 1994
19
Equine glucose-6-phosphate dehydrogenase deficiency. 56
7801429 1994
20
G6PD Nara: a new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion. 6
8241497 1993
21
New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. 56
1611091 1992
22
Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in vivo instability. 6
1536798 1992
23
Deficiency in red blood cells. 6
2005960 1991
24
DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. 56
1999409 1991
25
Glucose 6-phosphate dehydrogenase deficiency and cataract of patients in northern Sardinia. 56
2248331 1990
26
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. 6
1978554 1990
27
Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase. 6
2758468 1989
28
G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. 6
2503817 1989
29
Glucose 6-phosphate dehydrogenase deficiency and incidence of hematologic malignancy. 56
3348216 1988
30
X-linked glucose-6-phosphate dehydrogenase deficiency in Mus musculus. 56
3377761 1988
31
Bacterial infections in children with glucose-6-phosphate dehydrogenase deficiency. 56
3681550 1987
32
Selectivity of proteases as a basis for tissue distribution of enzymes in hereditary deficiencies. 6
6344088 1983
33
G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia. 6
7129446 1982
34
G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. 6
7160841 1982
35
Mosaicism in female hybrid hares heterozygous for glucose-6-phosphate dehydrogenase (G-6-PD). I. General properties of a hybrid hare model with special reference to atherogenesis. 56
7202686 1981
36
Increased incidence of cataracts in male subjects deficient in glucose-6-phosphate dehydrogenase. 56
7458742 1981
37
Imbalance in X-chromosome expression: evidence for a human X-linked gene affecting growth of hemopoietic cells. 56
472761 1979
38
Variability of red cell phenotypes between and within individuals in an unbiased sample of 77 heterozygotes for G6PD deficiency in Sardinia. 56
984045 1976
39
Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase. 56
4125296 1973
40
Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity. 56
4401271 1972
41
The potential use of xylitol in glucose-6-phosphate dehydrogenase deficiency anemia. 56
4397414 1971
42
Metabolic effects of pyrimidines derived from fava bean glycosides on human erythrocytes deficient in glucose-6-phosphate dehydrogenase. 56
5850686 1965
43
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND THE INCIDENCE OF CANCER. 56
14285010 1965
44
The hemolytic effect of primaquine and related compounds: a review. 56
13618370 1959
45
Perioperative management of the glucose-6-phosphate dehydrogenase deficient patient: a review of literature. 61 54
19769422 2009
46
A comprehensive study on the major mutations in glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in the coastal provinces of Caspian Sea in the north of Iran. 61 54
17499234 2007
47
Glucose-6-phosphate dehydrogenase--from oxidative stress to cellular functions and degenerative diseases. 61 54
17623517 2007
48
Prevalence of erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency in the population of western Turkey. 54 61
16971229 2006
49
High incidence of glucose-6-phosphate dehydrogenase deficiency in Croatian island isolate: example from Vis island, Croatia. 61 54
16909453 2006
50
Glucose-6-phosphate dehydrogenase variants associated with favism in Thai children. 61 54
16513531 2006

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 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASK NM_003688.3(CASK):c.846C>G (p.Tyr282Ter)SNV Pathogenic 434588 rs886128077 X:41495900-41495900 X:41636647-41636647
2 G6PD NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)SNV Pathogenic 804133 X:153760482-153760482 X:154532267-154532267
3 G6PD NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)SNV Pathogenic 804134 X:153760877-153760877 X:154532662-154532662
4 G6PD NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)SNV Pathogenic 854215 X:153763464-153763464 X:154535249-154535249
5 G6PD NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)SNV Pathogenic 10363 rs5030869 X:153761205-153761205 X:154532990-154532990
6 G6PD NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)SNV Pathogenic 10367 rs137852314 X:153762710-153762710 X:154534495-154534495
7 G6PD NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)SNV Pathogenic 100058 rs72554665 X:153760484-153760484 X:154532269-154532269
8 G6PD NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)SNV Pathogenic 10381 rs387906468 X:153760967-153760967 X:154532752-154532752
9 G6PD NM_000402.4(G6PD):c.632A>T (p.Asp211Val)SNV Pathogenic 37203 rs5030872 X:153762655-153762655 X:154534440-154534440
10 G6PD NM_000402.4(G6PD):c.1268G>A (p.Arg423His)SNV Pathogenic 10370 rs137852316 X:153760891-153760891 X:154532676-154532676
11 G6PD NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)SNV Pathogenic 10371 rs137852317 X:153760626-153760626 X:154532411-154532411
12 G6PD NM_000402.4(G6PD):c.1478G>A (p.Arg493His)SNV Pathogenic 100059 rs72554664 X:153760472-153760472 X:154532257-154532257
13 G6PD NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)SNV Pathogenic 10390 rs137852329 X:153760980-153760980 X:154532765-154532765
14 G6PD NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)SNV Pathogenic 10394 rs137852332 X:153762604-153762604 X:154534389-154534389
15 G6PD NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)SNV Pathogenic 10396 rs137852334 X:153760910-153760910 X:154532695-154532695
16 G6PD NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)SNV Pathogenic 10397 rs137852335 X:153760889-153760889 X:154532674-154532674
17 G6PD NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)SNV Pathogenic 10398 rs137852336 X:153760840-153760840 X:154532625-154532625
18 G6PD NM_000402.4(G6PD):c.193_195delATC (p.Ile66del)short repeat Pathogenic 10400 rs137852338 X:153774261-153774263 X:154546046-154546048
19 G6PD NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)SNV Pathogenic 10407 rs137852343 X:153762680-153762680 X:154534465-154534465
20 G6PD NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)SNV Pathogenic 10410 rs137852345 X:153760987-153760987 X:154532772-154532772
21 G6PD G6PD NARAdeletion Pathogenic 10411 rs587776730 X:153761228-153761251 X:154533013-154533036
22 G6PD NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)SNV Pathogenic 10412 rs137852346 X:153761849-153761849 X:154533634-154533634
23 G6PD NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)SNV Pathogenic 10414 rs137852347 X:153761244-153761244 X:154533029-154533029
24 G6PD NM_000402.4(G6PD):c.683G>A (p.Arg228His)SNV Pathogenic 10417 rs137852332 X:153762604-153762604 X:154534389-154534389
25 G6PD G6PD Amsterdamdeletion Pathogenic 10419
26 G6PD NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)SNV Pathogenic 93493 rs398123546 X:153760605-153760605 X:154532390-154532390
27 G6PD NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)SNV Pathogenic 93499 rs78365220 X:153763485-153763485 X:154535270-154535270
28 G6PD NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)SNV Pathogenic/Likely pathogenic 10399 rs137852337 X:153760649-153760649 X:154532434-154532434
29 G6PD NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)SNV Pathogenic/Likely pathogenic 10393 rs137852331 X:153762704-153762704 X:154534489-154534489
30 G6PD NM_000402.4(G6PD):c.961G>A (p.Val321Met)SNV Pathogenic/Likely pathogenic 10386 rs137852327 X:153761337-153761337 X:154533122-154533122
31 G6PD NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)SNV Pathogenic/Likely pathogenic 100057 rs5030868 X:153762634-153762634 X:154534419-154534419
32 G6PD NM_000402.4(G6PD):c.292G>A (p.Val98Met)SNV drug response 37123 rs1050828 X:153764217-153764217 X:154536002-154536002
33 G6PD NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)SNV Conflicting interpretations of pathogenicity 10388 rs76723693 X:153761240-153761240 X:154533025-154533025
34 G6PD NM_000402.4(G6PD):c.934G>C (p.Asp312His)SNV Conflicting interpretations of pathogenicity 10372 rs137852318 X:153761811-153761811 X:154533596-154533596
35 G6PD NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)SNV Conflicting interpretations of pathogenicity 10364 rs137852313 X:153763402-153763402 X:154535187-154535187
36 G6PD NM_000402.4(G6PD):c.727G>T (p.Val243Leu)SNV Conflicting interpretations of pathogenicity 10383 rs137852326 X:153762560-153762560 X:154534345-154534345
37 G6PD NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)SNV Conflicting interpretations of pathogenicity 100055 rs1050829 X:153763492-153763492 X:154535277-154535277
38 G6PD NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)SNV Conflicting interpretations of pathogenicity 800212 X:153760829-153760829 X:154532614-154532614
39 G6PD NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)SNV Conflicting interpretations of pathogenicity 10401 rs137852339 X:153761259-153761259 X:154533044-154533044
40 G6PD NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)SNV Conflicting interpretations of pathogenicity 10402 rs76645461 X:153764371-153764371 X:154536156-154536156
41 G6PD NM_000402.4(G6PD):c.185A>G (p.His62Arg)SNV Conflicting interpretations of pathogenicity 10403 rs137852340 X:153774276-153774276 X:154546061-154546061
42 G6PD NM_000402.4(G6PD):c.482G>T (p.Gly161Val)SNV Conflicting interpretations of pathogenicity 10404 rs137852341 X:153763476-153763476 X:154535261-154535261
43 G6PD NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)SNV Conflicting interpretations of pathogenicity 10405 rs137852342 X:153761184-153761184 X:154532969-154532969
44 G6PD NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)SNV Conflicting interpretations of pathogenicity 10406 rs78478128 X:153764383-153764383 X:154536168-154536168
45 G6PD NM_001360016.2(G6PD):c.1398C>T (p.Thr466=)SNV Conflicting interpretations of pathogenicity 93495 rs398123547 X:153760462-153760462 X:154532247-154532247
46 G6PD NM_001360016.2(G6PD):c.1288-14TC[2]short repeat Conflicting interpretations of pathogenicity 193829 rs199586268 X:153760686-153760687 X:154532471-154532472
47 G6PD NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)SNV Conflicting interpretations of pathogenicity 368101 rs145247580 X:153762615-153762615 X:154534400-154534400
48 G6PD NM_001360016.2(G6PD):c.120+7A>CSNV Conflicting interpretations of pathogenicity 368103 rs369904290 X:153774244-153774244 X:154546029-154546029
49 G6PD NM_001360016.2(G6PD):c.813G>A (p.Val271=)SNV Uncertain significance 850954 X:153761842-153761842 X:154533627-154533627
50 G6PD NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)SNV Uncertain significance 835994 X:153762323-153762323 X:154534108-154534108

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

73 (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 TMLHE LCT GRHPR GPX8 GPX7 GPX6
2
Show member pathways
12.88 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
3
Show member pathways
12.79 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
4
Show member pathways
12.57 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
5
Show member pathways
12.01 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
6
Show member pathways
11.8 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
7 11.79 GPX3 GPX2 G6PD
8 11.41 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
9
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 oxidation-reduction process GO:0055114 9.91 TMLHE GRHPR GPX8 GPX7 GPX6 GPX5
2 response to oxidative stress GO:0006979 9.63 GPX8 GPX7 GPX6 GPX5 GPX3 GPX2
3 cellular response to oxidative stress GO:0034599 9.43 GPX8 GPX7 GPX5 GPX3 GPX2 G6PD
4 hydrogen peroxide catabolic process GO:0042744 9.32 GPX5 GPX3
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 selenium binding GO:0008430 9.26 GPX5 GPX3
4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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