MCID: FVS001
MIFTS: 39

Favism malady

Categories: Genetic diseases (common), Metabolic diseases

Aliases & Classifications for Favism

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Summaries for Favism

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OMIM:52 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 signaling pathway. Affiliated tissues include testes, kidney and liver.

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

Wikipedia:71 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 & Phenotypes for Favism

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Symptoms by clinical synopsis from OMIM:

134700

Clinical features from OMIM:

134700

Human phenotypes related to Favism:

 64
id Description HPO Frequency HPO Source Accession
1 fava bean-induced hemolytic anemia64 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
Primaquineapproved7690-34-64908
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
2Antiprotozoal Agents1986
3Antiparasitic Agents2127
4Antimalarials1216
5Anti-Infective Agents21402

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 to27

Anatomical Context for Favism

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MalaCards organs/tissues related to Favism:

36
Testes, Kidney, Liver

Publications for Favism

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Articles related to Favism:

(show top 50)    (show all 161)
idTitleAuthorsYear
1
The Protective Role of Anise Oil in Oxidative Stress and Genotoxicity Produced in Favism. (26745557)
2016
2
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. (27519946)
2016
3
Dental Considerations in Children with Glucose-6-phosphate Dehydrogenase Deficiency (Favism): A Review of the Literature and Case Report. (26435857)
2015
4
Identification of Mediterranean mutation in Egyptian favism patients. (25339475)
2014
5
Medical expenses of patients with Favism admitted to 17th Shahrivar Hospital compared to G6PD enzyme screening cost, in north of Iran. (25002925)
2014
6
Oxidative stress and antioxidant defense in Egyptian favism patients. (23690191)
2013
7
Acute Favism: Methemoglobinemia May Cause Cyanosis and Low Pulse Oximetry Readings. (23697341)
2013
8
Do favic patients resume fava beans ingestion later in their life, a study for this, and a new hypothesis for favism etiology. (23664599)
2013
9
Evaluation of liver and kidney function in favism patients. (23483616)
2013
10
Favism in a 15-month-old baby. (24312948)
2013
11
Acute renal failure in favism revealing familial glucose-6-phosphate dehydrogenase deficiency. (22279353)
2012
12
Molecular mediators of favism-induced acute kidney injury. (23006341)
2012
13
Association between ACP(1) genetic polymorphism and favism. (21644204)
2011
14
Diospyros lotus L. fruit extract protects G6PD-deficient erythrocytes from hemolytic injury in vitro and in vivo: prevention of favism disorder. (22195359)
2011
15
An unusual syncope cause in the ED: favism. (20930025)
2011
16
Drug-eluting stents in a patient with favism: is the aspirin administration safe? (18852594)
2008
17
Glucose-6-phosphate dehydrogenase variants associated with favism in Thai children. (16513531)
2006
18
An Ashkenazi Jewish woman presenting with favism. (15735168)
2005
19
Molecular identification of mutations in G6PD gene in patients with favism in Iran. (15957246)
2004
20
Favism: effect of divicine on rat erythrocyte sulfhydryl status, hexose monophosphate shunt activity, morphology, and membrane skeletal proteins. (11452148)
2001
21
Favism]. (11155491)
2000
22
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
23
Favism: divicine hemotoxicity in the rat. (10543033)
1999
24
Favism by proxy in nursing glucose-6-phosphate dehydrogenase-deficient neonates. (9848766)
1998
25
Association between ACP1 and favism: a possible biochemical mechanism. (9116311)
1997
26
Active involvement of catalase during hemolytic crises of favism. (8704218)
1996
27
Lactose absorption in patients with glucose 6-phosphate dehydrogenase deficiency with and without favism. (8991858)
1996
28
Variation of favism-inducing factors (vicine, convicine and L-DOPA) during pod development in Vicia faba L. (7659704)
1995
29
Favism in a female newborn infant whose mother ingested fava beans before delivery. (7472841)
1995
30
Haptoglobin therapy for acute favism: a Japanese boy with glucose-6-phosphate dehydrogenase Guadalajara. (7873396)
1995
31
Glucose-6-phosphate: a key compound in glycogenosis I and favism leading to hyper- or hypolipidaemia. (8319730)
1993
32
G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism. (8490627)
1993
33
Mechanisms of perturbation of erythrocyte calcium homeostasis in favism. (1337501)
1992
34
Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the northern Sardinian experience. (1585769)
1992
35
Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-). (2106932)
1990
36
Epidemiologic study of acute favism cases (G6PD deficiency) in the Autonomous Community of Murcia during 1983-1987. Report of a case]. (2131603)
1990
37
Recent advances in the biochemistry of favism. (2201290)
1990
38
Pathophysiology of favism. (2481620)
1989
39
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism. (2498187)
1989
40
The erythroenzymopathies. With particular reference to glucose-6-phosphate dehydrogenase deficiency and favism. (3152863)
1988
41
Alterations of red blood cell proteolysis in favism. (3036108)
1987
42
Favism: impairment of proteolytic systems in red blood cells. (3034353)
1987
43
Evidence for superoxide generation from the autoxidation of the favism-inducing aglycone divicine. (2825804)
1987
44
Contributions of superoxide, hydrogen peroxide, and transition metal ions to auto-oxidation of the favism-inducing pyrimidine aglycone, divicine, and its reactions with haemoglobin. (3013207)
1986
45
Desferrioxamine and favism. (3718878)
1986
46
Favism: disordered erythrocyte calcium homeostasis. (2410063)
1985
47
Deferoxamine and favism. (3990722)
1985
48
Ahaptoglobinemia in Favism patients from Iran. (3870884)
1985
49
Favism in two British women. (2865483)
1985
50
Inactivation of red cell glutathione peroxidase by divicine and its relation to the hemolysis of favism. (4063400)
1985

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.583A> G (p.Asn195Asp)SNVPathogenicrs137852331GRCh37Chr X, 153762704: 153762704
2G6PDNM_000402.4(G6PD): c.292G> A (p.Val98Met)SNVdrug responsers1050828GRCh37Chr X, 153764217: 153764217
3G6PDNM_000402.4(G6PD): c.1450C> T (p.Arg484Cys)SNVPathogenicrs398123546GRCh37Chr 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
1blood microparticleGO:007256210.3HBA1, HP
2endocytic vesicle lumenGO:007168210.3HBA1, HP
3haptoglobin-hemoglobin complexGO:003183810.2HBA1, HP
4cytoplasmic side of plasma membraneGO:000989810.0ACP1, G6PD
5intracellular membrane-bounded organelleGO:00432318.9CAT, G6PC, G6PD
6extracellular exosomeGO:00700628.3ACP1, 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:005115610.2G6PC, G6PD
2positive regulation of cell deathGO:001094210.1HBA1, HP
3receptor-mediated endocytosisGO:000689810.1HBA1, HP
4response to foodGO:003209410.1G6PC, G6PD
5response to ethanolGO:004547110.0CAT, G6PD
6hydrogen peroxide catabolic processGO:004274410.0CAT, HBA1
7cellular oxidant detoxificationGO:00988699.5CAT, HBA1, HP
8triglyceride metabolic processGO:00066419.3CAT, G6PC
9response to hydrogen peroxideGO:00425429.3CAT, HBA1, HP

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

idNameGO IDScoreTop Affiliating Genes
1antioxidant activityGO:001620910.0CAT, HP
2heme bindingGO:00200379.7CAT, HBA1
3NADP bindingGO:00506619.4CAT, G6PD

Sources for Favism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet