MCID: FVS001
MIFTS: 38

Favism malady

Categories: Genetic diseases (common), Metabolic diseases

Aliases & Classifications for Favism

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Summaries for Favism

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OMIM:50 Hemolytic anemia following ingestion of the bean of Vicia faba or exposure to its pollen is conditioned primarily by a... (134700) more...

MalaCards based summary: Favism is related to malaria and g6pd-related altered drug metabolism, and has symptoms including fava bean-induced hemolytic anemia An important gene associated with Favism is G6PD (Glucose-6-Phosphate Dehydrogenase), and among its related pathways are Binding and Uptake of Ligands by Scavenger Receptors and FoxO family signaling. Affiliated tissues include testes, kidney and breast.

Disease Ontology:11 A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.

Wikipedia:69 Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency), also known as favism (after the fava... more...

Related Diseases for Favism

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Graphical network of diseases related to Favism:



Diseases related to favism

Symptoms for Favism

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Symptoms by clinical synopsis from OMIM:

134700

Clinical features from OMIM:

134700

HPO human phenotypes related to Favism:

id Description Frequency HPO Source Accession
1 fava bean-induced hemolytic anemia HP:0004814

Drugs & Therapeutics for Favism

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Drugs for Favism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Primaquine7590-34-64908
Synonyms:
()-Primaquine
(+)-N4-(6-Methoxy-8-quinolinyl)-1,4-pentanediamine
(+)-Primaquine
(+/-)-Primaquine
(-)-N4-(6-Methoxy-8-quinolinyl)-1,4-pentanediamine
(-)-Primaquine
1,4-Pentanediamine, N4-(6-methoxy-8-quinolinyl)- (9CI)
4-22-00-05817 (Beilstein Handbook Reference)
4-N-(6-methoxyquinolin-8-yl)pentane-1,4-diamine
6-Methoxy-8-(4-amino-1-methylbutylamino)quinoline
6-Methoxy-8-[(4-amino-1-methylbutyl)amino]quinoline
6-Methoxy-8-[4-amino-1-methylbutylamino]quinoline
63-45-6
63-45-6 (1:2 PO4)
8-((4-Amino-1-methylbutyl)amino)-6-methoxyquinoline
8-(4-Amino-1-m
8-(4-Amino-1-methylbutylamino)-6-methoxyquinoline
8-[(4-Amino-1-methylbutyl)amino]-6-methoxyquinoline
90-34-6
AB00053529
AC1L1J80
AC1Q4F0C
AC1Q4F4Q
BPBio1_000674
BRN 0019337
BSPBio_000612
BSPBio_002223
C07627
CCRIS 4109
CHEBI:8405
CHEMBL506
CID4908
D08420
DB01087
DivK1c_000806
EINECS 201-987-2
HMS2090J17
HSDB 6516
I08-0048
IDI1_000806
KBio1_000806
KBio2_001310
KBio2_003878
KBio2_006446
KBio3_001723
KBioGR_000967
KBioSS_001310
Kanaprim
Kanaprim (TN)
LS-141312
MolPort-001-794-628
 
N(4)-(6-methoxyquinolin-8-yl)pentane-1,4-diamine
N-(5-aminopentan-2-yl)-6-methoxyquinolin-8-amine
N4-(6-Methoxy-8-quinolinyl)-1,4-pentanediamine
NCGC00178754-01
NCGC00178754-02
NCI60_001035
NCI60_005887
NINDS_000806
NSC 27296
NSC27296
Neo-Quipenyl
Neo-quipenyl
N~4~-[6-(methyloxy)quinolin-8-yl]pentane-1,4-diamine
Oprea1_546209
PQ
PRIMAQUINE
Prestwick0_000476
Prestwick1_000476
Prestwick2_000476
Prestwick3_000476
Primachin
Primachina
Primachina [DCIT]
Primachinum
Primaquin
Primaquina
Primaquina [INN-Spanish]
Primaquine (INN)
Primaquine Bis-Phosphoric Acid
Primaquine [INN:BAN]
Primaquinum
Primaquinum [INN-Latin]
Quinoline, 8-(4-amino-1-methylbutylamino)-6-methoxy
Quinoline, 8-[(4-amino-1-methylbutyl)amino]-6-methoxy- (6CI,8CI)
S. N. 13272
SMP1_000263
SN 13,272
SN 13272
SPBio_000674
SPBio_002551
STOCK5S-90838
Spectrum2_000887
Spectrum3_000552
Spectrum4_000484
Spectrum5_001363
Spectrum_000830
TG1-296
TG1-297
UNII-MVR3634GX1
WLN: T66 BNJ HO1 JMY1&3Z
WR 2975
dl-Primaquine
ethylbutylamino)-6-methoxyquinoline

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Test to Predict the Hemolytic Potential of Drugs in G6PD DeficiencyCompletedNCT00076323

Search NIH Clinical Center for Favism


Cochrane evidence based reviews: favism

Genetic Tests for Favism

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Genetic tests related to Favism:

id Genetic test Affiliating Genes
1 Favism, Susceptibility to25

Anatomical Context for Favism

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MalaCards organs/tissues related to Favism:

34
Testes, Kidney, Breast, Liver

Animal Models for Favism or affiliated genes

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Publications for Favism

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Articles related to Favism:

(show top 50)    (show all 161)
idTitleAuthorsYear
1
Dental Considerations in Children with Glucose-6-phosphate Dehydrogenase Deficiency (Favism): A Review of the Literature and Case Report. (26435857)
2015
2
Oxidative stress and antioxidant defense in Egyptian favism patients. (23690191)
2013
3
Acute renal failure in favism revealing familial glucose-6-phosphate dehydrogenase deficiency. (22279353)
2012
4
Association between ACP(1) genetic polymorphism and favism. (21644204)
2011
5
Drug-eluting stents in a patient with favism: is the aspirin administration safe? (18852594)
2008
6
Several mutations including two novel mutations of the glucose-6-phosphate dehydrogenase gene in Polish G6PD deficient subjects with chronic nonspherocytic hemolytic anemia, acute hemolytic anemia, and favism. (10571945)
1999
7
Association between ACP1 and favism: a possible biochemical mechanism. (9116311)
1997
8
Variation of favism-inducing factors (vicine, convicine and L-DOPA) during pod development in Vicia faba L. (7659704)
1995
9
Glucose-6-phosphate: a key compound in glycogenosis I and favism leading to hyper- or hypolipidaemia. (8319730)
1993
10
Mechanisms of perturbation of erythrocyte calcium homeostasis in favism. (1337501)
1992
11
Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the northern Sardinian experience. (1585769)
1992
12
Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-). (2106932)
1990
13
Pathophysiology of favism. (2481620)
1989
14
Favism: disordered erythrocyte calcium homeostasis. (2410063)
1985
15
Deferoxamine and favism. (3990722)
1985
16
Biological activities of broad bean (Vicia faba L.) extracts cultivated in South Anatolia in favism sensitive subjects. (6740693)
1984
17
Favism: looking for an autosomal gene associated with glucose-6-phosphate dehydrogenase deficiency. (6436490)
1984
18
The effects of isouramil on erythrocyte mechanics: implications for favism. (6546147)
1984
19
Lymphocyte changes in favism: in vitro evidence of a modifying effect of bilirubin and hemoglobin on T-lymphocyte receptors. (6402878)
1983
20
Favism and hemolytic anemia in glucose-6-phosphate dehydrogenase-deficient subjects in North Sardinia. (6408883)
1983
21
The chemistry of favism-inducing compounds. The properties of isouramil and divicine and their reaction with glutathione. (7140776)
1982
22
Hemoglobin Koelliker (alpha 2 minus 141 arg beta 2) in favism. (6805217)
1982
23
Gd(-) Muret and gd(-) Colomiers, two new variants of glucose-6-phosphate dehydrogenase associated with favism. (7250973)
1981
24
Favism: erythrocyte metabolism during haemolysis and reticulocytosis. (41565)
1979
25
Prevention of favism in the rural areas. (411638)
1977
26
Salicylamide-Glucuronide formation in children with favism and in their parents. (821294)
1976
27
A serum defect in favism. (4816791)
1974
28
Serum concentrations of haptoglobin and hemopexin in favism and thalassemia. (4214606)
1974
29
The prelevance of immune reactions in acute favism. (4136243)
1974
30
Favism: current problems and investigations. (4714581)
1973
31
Favism in Singapore. (5051872)
1972
32
Glucose-6-phosphate dehydrogenase activity during cytodifferentiation of the haemopoietic system. Studies on red and white cells in patients with favism. (4660274)
1972
33
On the pathogenesis of favism. (5149530)
1971
34
Favism in breast-fed infants. (5118085)
1971
35
Abnormal glucose tolerance in favism. (5452391)
1970
36
The oxidant effect of isouramil on red cell glutathione and its synergistic enhancement by ascorbic acid or 3,4-dihydroxyphenylalanine. Possible relation to the pathogenesis of favism. (5707783)
1968
37
FAVISM IN ENGLAND--TWO MORE CASES. (14294749)
1965
38
Immunologic studies in a case of favism. (14453671)
1962
39
Favism and thalassemia minor in a pregnant woman. (13875561)
1962
40
Favism. (13720117)
1961
41
Favism. (20326465)
1960
42
Favism--report of a case. (14400102)
1959
43
Serologic studies on favism. (13630642)
1959
44
Bilateral cortical necrosis of the kidneys in an infant with favism. (13292383)
1956
45
Favism; a case report. (14365222)
1955
46
Nature of favism; case presentation]. (13211128)
1954
47
Treatment of favism with cortisone. (13174371)
1954
48
Favism. (14887294)
1951
49
Favism in childhood; a case report. (14884561)
1951
50
Favism in two children in California. (15430105)
1950

Variations for Favism

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Clinvar genetic disease variations for Favism:

5
id Gene Variation Type Significance SNP ID Assembly Location
1G6PDNM_000402.4(G6PD): c.292G> A (p.Val98Met)single nucleotide variantdrug responsers1050828GRCh37Chr X, 153764217: 153764217
2G6PDNM_000402.4(G6PD): c.583A> G (p.Asn195Asp)single nucleotide variantPathogenicrs137852331GRCh37Chr X, 153762704: 153762704
3G6PDNM_000402.4(G6PD): c.292G> A (p.Val98Met)single nucleotide variantdrug responsers1050828GRCh37Chr X, 153764217: 153764217
4G6PDNM_000402.4(G6PD): c.1450C> T (p.Arg484Cys)single nucleotide variantPathogenicrs398123546GRCh37Chr X, 153760605: 153760605

Expression for genes affiliated with Favism

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Search GEO for disease gene expression data for Favism.

Pathways for genes affiliated with Favism

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GO Terms for genes affiliated with Favism

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Cellular components related to Favism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1haptoglobin-hemoglobin complexGO:003183810.3HBA1, HP
2endocytic vesicle lumenGO:007168210.1HBA1, HP
3blood microparticleGO:00725629.7HBA1, HP
4cytoplasmic side of plasma membraneGO:00098989.6ACP1, G6PD
5intracellular membrane-bounded organelleGO:00432318.9CAT, G6PC, G6PD
6extracellular exosomeGO:00700627.5ACP1, CAT, G6PD, HBA1, HP

Biological processes related to Favism according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1glucose 6-phosphate metabolic processGO:005115610.1G6PC, G6PD
2hydrogen peroxide catabolic processGO:00427449.8CAT, HBA1
3receptor-mediated endocytosisGO:00068989.7HBA1, HP
4positive regulation of cell deathGO:00109429.6HBA1, HP
5triglyceride metabolic processGO:00066419.6CAT, G6PC
6response to foodGO:00320949.4G6PC, G6PD
7response to ethanolGO:00454719.4CAT, G6PD
8cellular oxidant detoxificationGO:00988699.2CAT, HBA1, HP
9response to hydrogen peroxideGO:00425429.2CAT, HBA1, HP

Molecular functions related to Favism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1antioxidant activityGO:00162099.9CAT, HP
2NADP bindingGO:00506619.4CAT, G6PD
3heme bindingGO:00200379.2CAT, HBA1

Sources for Favism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet