Aliases & Classifications for Favism

Summaries for Favism

OMIM : 54 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 g6pd-related altered drug metabolism and glucosephosphate dehydrogenase deficiency, 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/superpathways are FoxO signaling pathway and DNA Damage Response (only ATM dependent). The drugs Primaquine and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, breast and liver.

Disease Ontology : 12 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

Graphical network of the top 20 diseases related to Favism:



Diseases related to Favism

Symptoms & Phenotypes for Favism

Symptoms by clinical synopsis from OMIM:

134700

Clinical features from OMIM:

134700

Human phenotypes related to Favism:

32
id Description HPO Frequency HPO Source Accession
1 fava bean-induced hemolytic anemia 32 HP:0004814

Drugs & Therapeutics for Favism

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


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

Interventional clinical trials:


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

Search NIH Clinical Center for Favism

Cochrane evidence based reviews: favism

Genetic Tests for Favism

Genetic tests related to Favism:

id Genetic test Affiliating Genes
1 Favism, Susceptibility to 29

Anatomical Context for Favism

MalaCards organs/tissues related to Favism:

39
Kidney, Breast, Liver

Publications for Favism

Articles related to Favism:

(show top 50) (show all 161)
id Title Authors Year
1
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
2
The Protective Role of Anise Oil in Oxidative Stress and Genotoxicity Produced in Favism. ( 26745557 )
2016
3
Dental Considerations in Children with Glucose-6-phosphate Dehydrogenase Deficiency (Favism): A Review of the Literature and Case Report. ( 26435857 )
2015
4
Medical expenses of patients with Favism admitted to 17th Shahrivar Hospital compared to G6PD enzyme screening cost, in north of Iran. ( 25002925 )
2014
5
Identification of Mediterranean mutation in Egyptian favism patients. ( 25339475 )
2014
6
Evaluation of liver and kidney function in favism patients. ( 23483616 )
2013
7
Oxidative stress and antioxidant defense in Egyptian favism patients. ( 23690191 )
2013
8
Favism in a 15-month-old baby. ( 24312948 )
2013
9
Do favic patients resume fava beans ingestion later in their life, a study for this, and a new hypothesis for favism etiology. ( 23664599 )
2013
10
Acute Favism: Methemoglobinemia May Cause Cyanosis and Low Pulse Oximetry Readings. ( 23697341 )
2013
11
Molecular mediators of favism-induced acute kidney injury. ( 23006341 )
2012
12
Acute renal failure in favism revealing familial glucose-6-phosphate dehydrogenase deficiency. ( 22279353 )
2012
13
An unusual syncope cause in the ED: favism. ( 20930025 )
2011
14
Association between ACP(1) genetic polymorphism and favism. ( 21644204 )
2011
15
Diospyros lotus L. fruit extract protects G6PD-deficient erythrocytes from hemolytic injury in vitro and in vivo: prevention of favism disorder. ( 22195359 )
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
Favism: divicine hemotoxicity in the rat. ( 10543033 )
1999
23
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
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
Lactose absorption in patients with glucose 6-phosphate dehydrogenase deficiency with and without favism. ( 8991858 )
1996
27
Active involvement of catalase during hemolytic crises of favism. ( 8704218 )
1996
28
Haptoglobin therapy for acute favism: a Japanese boy with glucose-6-phosphate dehydrogenase Guadalajara. ( 7873396 )
1995
29
Variation of favism-inducing factors (vicine, convicine and L-DOPA) during pod development in Vicia faba L. ( 7659704 )
1995
30
Favism in a female newborn infant whose mother ingested fava beans before delivery. ( 7472841 )
1995
31
G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism. ( 8490627 )
1993
32
Glucose-6-phosphate: a key compound in glycogenosis I and favism leading to hyper- or hypolipidaemia. ( 8319730 )
1993
33
Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the northern Sardinian experience. ( 1585769 )
1992
34
Mechanisms of perturbation of erythrocyte calcium homeostasis in favism. ( 1337501 )
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
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism. ( 2498187 )
1989
39
Pathophysiology of favism. ( 2481620 )
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
Evidence for superoxide generation from the autoxidation of the favism-inducing aglycone divicine. ( 2825804 )
1987
43
Favism: impairment of proteolytic systems in red blood cells. ( 3034353 )
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 in two British women. ( 2865483 )
1985
47
Deferoxamine and favism. ( 3990722 )
1985
48
Inactivation of red cell glutathione peroxidase by divicine and its relation to the hemolysis of favism. ( 4063400 )
1985
49
Favism: disordered erythrocyte calcium homeostasis. ( 2410063 )
1985
50
Ahaptoglobinemia in Favism patients from Iran. ( 3870884 )
1985

Variations for Favism

ClinVar genetic disease variations for Favism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 G6PD NM_000402.4(G6PD): c.292G> A (p.Val98Met) single nucleotide variant drug response rs1050828 GRCh37 Chromosome X, 153764217: 153764217
2 G6PD NM_000402.4(G6PD): c.653C> T (p.Ser218Phe) single nucleotide variant Pathogenic/Likely pathogenic rs5030868 GRCh37 Chromosome X, 153762634: 153762634
3 G6PD NM_000402.4(G6PD): c.583A> G (p.Asn195Asp) single nucleotide variant Pathogenic rs137852331 GRCh37 Chromosome X, 153762704: 153762704
4 G6PD NM_000402.4(G6PD): c.1450C> T (p.Arg484Cys) single nucleotide variant Pathogenic rs398123546 GRCh37 Chromosome X, 153760605: 153760605

Expression for Favism

Search GEO for disease gene expression data for Favism.

Pathways for Favism

GO Terms for Favism

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 ACP1 CAT G6PD HBA1 HP
2 cytoplasmic side of plasma membrane GO:0009898 9.16 ACP1 G6PD
3 endocytic vesicle lumen GO:0071682 8.96 HBA1 HP
4 haptoglobin-hemoglobin complex GO:0031838 8.62 HBA1 HP

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

id Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.46 CAT G6PD
2 cellular response to oxidative stress GO:0034599 9.43 CAT G6PD
3 positive regulation of cell death GO:0010942 9.4 HBA1 HP
4 triglyceride metabolic process GO:0006641 9.37 CAT G6PC
5 response to food GO:0032094 9.32 G6PC G6PD
6 hydrogen peroxide catabolic process GO:0042744 9.26 CAT HBA1
7 glucose 6-phosphate metabolic process GO:0051156 9.16 G6PC G6PD
8 cellular oxidant detoxification GO:0098869 9.13 CAT HBA1 HP
9 response to hydrogen peroxide GO:0042542 8.8 CAT HBA1 HP

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

id Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.26 CAT HBA1
2 NADP binding GO:0050661 9.16 CAT G6PD
3 peroxidase activity GO:0004601 8.96 CAT HBA1
4 antioxidant activity GO:0016209 8.62 CAT HP

Sources for Favism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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