MCID: FVS001
MIFTS: 42

Favism malady

Categories: Genetic diseases (common), Metabolic diseases

Aliases & Classifications for Favism

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Aliases & Descriptions for Favism:

Name: Favism 49 10 11 47 36 24 65
 
Glucose-6-Phosphate Dehydrogenase Deficiency 12

Characteristics:

HPO:

61
favism:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 134700
Disease Ontology10 DOID:13628
ICD1027 D55.0
MeSH36 D005236
NCIt42 C34607
UMLS65 C0015702

Summaries for Favism

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OMIM:49 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, also known as glucose-6-phosphate dehydrogenase deficiency, is related to neonatal jaundice and malaria, 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 FoxO family signaling and Carbon metabolism. Affiliated tissues include prostate, breast and testes.

Disease Ontology:10 A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.

Related Diseases for Favism

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Diseases related to Favism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1neonatal jaundice31.2G6PD, UGT1A1
2malaria29.0G6PD, HBA1, HBB, HP
3glucosephosphate dehydrogenase deficiency11.8
4g6pd-related altered drug metabolism11.1
5vestibular nystagmus10.6G6PD, HP
6corneal disease10.3G6PD, UGT1A1
7brill-zinsser disease10.3CAT, G6PD
8bronchus cancer10.3HBA1, HBE1
9lacrimal gland adenocarcinoma10.3G6PC, G6PD
10bilirubin metabolic disorder10.3G6PD, UGT1A1
11wernicke encephalopathy10.2G6PD, UGT1A1
12immunodeficiency, centromere instability and facial anomalies syndrome10.2CAT, G6PD
13auditory system disease10.2G6PD, HP, UGT1A1
14hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities10.1HBB, HP
15actinic prurigo10.1HBA1, HBB
16hemolytic anemia10.1
17thalassemia10.1
18gaba-transaminase deficiency10.1HBA1, HBB
19rheumatic fever10.1G6PD, HBB
20degenerative disc disease10.0G6PD, PGD
21pulmonary alveolar proteinosis10.0HBA1, HBB
22composite lymphoma10.0G6PD, HP
23queensland tick typhus9.9G6PD, HBB, HP
24methemoglobinemia9.9
25thalassemia minor9.9
26syncope9.9
27thbd-related atypical hemolytic-uremic syndrome9.9HBB, UGT1A1
28blackwater fever9.9G6PD, HBB, HP
29hypotrichosis-deafness syndrome9.8HBB, HBD
30hemoglobin e disease9.8HBB, HBD
31cyanosis, transient neonatal9.8HBB, HBD
32hepatic adenoma, somatic9.8ACP1, CAT, HBA1, HP
33panophthalmitis9.8HBB, HBD
34chronic congestive splenomegaly9.8HBB, HBD
35basal cell carcinoma9.8HBB, HBD
36active peptic ulcer disease9.8HBB, HBD
37marantic endocarditis9.8HBB, HBD
38swayback9.8HBB, HBD
39malignant hypertension9.8HBB, HBD
40generalized anxiety disorder9.7HBB, HBD
41diabetes mellitus, noninsulin-dependent9.7ACP1, CAT, G6PC, HBA1
42intrapelvic lymph node leukemic reticuloendotheliosis9.6G6PD, HBB, UGT1A1
43internuclear ophthalmoplegia9.6HBA1, HBB, HBE1
44tendinitis9.6G6PD, HBA1, HBB, HP
45snyder-robinson syndrome9.6G6PD, HBB, HBD
46pinta disease9.5HBB, UGT1A1
47protoporphyria, erythropoietic, x-linked9.5HBB, HBD
48thalassemia-beta, dominant inclusion-body9.4G6PD, HBA1, HBB, UGT1A1
49qazi markouizos syndrome9.0HBA1, HBB, HBD, HBE1
50malignant adult ependymoma8.8G6PD, HBB, HBD, HBE1, HP

Graphical network of the top 20 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
Primaquineapproved6490-34-64908
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 Phosphate
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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Anatomical Context for Favism

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MalaCards organs/tissues related to Favism:

33
Prostate, Breast, Testes, Endothelial, Heart, Tonsil, Myeloid

Animal Models for Favism or affiliated genes

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MGI Mouse Phenotypes related to Favism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Favism

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Articles related to Favism:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
The Protective Role of Anise Oil in Oxidative Stress and Genotoxicity Produced in Favism. (26745557)
2016
2
Acute Favism: Methemoglobinemia May Cause Cyanosis and Low Pulse Oximetry Readings. (23697341)
2013
3
Do favic patients resume fava beans ingestion later in their life, a study for this, and a new hypothesis for favism etiology. (23664599)
2013
4
Evaluation of liver and kidney function in favism patients. (23483616)
2013
5
Favism: effect of divicine on rat erythrocyte sulfhydryl status, hexose monophosphate shunt activity, morphology, and membrane skeletal proteins. (11452148)
2001
6
Favism: divicine hemotoxicity in the rat. (10543033)
1999
7
Active involvement of catalase during hemolytic crises of favism. (8704218)
1996
8
Haptoglobin therapy for acute favism: a Japanese boy with glucose-6-phosphate dehydrogenase Guadalajara. (7873396)
1995
9
Variation of favism-inducing factors (vicine, convicine and L-DOPA) during pod development in Vicia faba L. (7659704)
1995
10
Mechanisms of perturbation of erythrocyte calcium homeostasis in favism. (1337501)
1992
11
Recent advances in the biochemistry of favism. (2201290)
1990
12
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in southern Italy: a case of G6PD A(-) associated with favism. (2498187)
1989
13
Pathophysiology of favism. (2481620)
1989
14
Desferrioxamine and favism. (3718878)
1986
15
Favism: disordered erythrocyte calcium homeostasis. (2410063)
1985
16
Deferoxamine and favism. (3990722)
1985
17
Biological activities of broad bean (Vicia faba L.) extracts cultivated in South Anatolia in favism sensitive subjects. (6740693)
1984
18
Lymphocyte changes in favism: in vitro evidence of a modifying effect of bilirubin and hemoglobin on T-lymphocyte receptors. (6402878)
1983
19
Hemoglobin A1 in subjects with G-6-PD deficiency during and after hemolytic crises due to favism. (6401888)
1983
20
A novel method for quantitation of favism-inducing agents in legumes. (6846790)
1983
21
Favism and hemolytic anemia in glucose-6-phosphate dehydrogenase-deficient subjects in North Sardinia. (6408883)
1983
22
Favism--a natural model for the study of hemolytic mechanisms. (6760258)
1982
23
The chemistry of favism-inducing compounds. The properties of isouramil and divicine and their reaction with glutathione. (7140776)
1982
24
Effect of divicine and isouramil on red cell metabolism in normal and G6PD-deficient (Mediterranean variant) subjects. Possible role in the genesis of favism. (7291203)
1981
25
Favism in GdMediterranean heterozygous females. (481952)
1979
26
A serum defect in favism. (4816791)
1974
27
Serum concentrations of haptoglobin and hemopexin in favism and thalassemia. (4214606)
1974
28
Investigations on favism-inducing toxins in broad beans (Vicia faba L.). (4794968)
1973
29
The epidemiology of favism. (4541143)
1973
30
Biochemical characterization of a glucose-6-phosphate dehydrogenase variant with favism: G-6-PD ZAohringen. (5011553)
1972
31
Favism in Singapore. (5051872)
1972
32
On the pathogenesis of favism. (5149530)
1971
33
Favism in breast-fed infants. (5555486)
1971
34
Some clinical and biochemical aspects of favism in childhood. (5351939)
1969
35
Glucose-6-phosphate-dehydrogenase deficiency and favism. (4187209)
1969
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
On the familial predisposition to favism. (5944419)
1966
38
Favism in Britain. (5833616)
1965
39
FAVISM IN ENGLAND--TWO MORE CASES. (14294749)
1965
40
Favism in a white South African child. (13941936)
1963
41
Studies on favism. I. Isolation of an active principle from faba beans (Vicia faba). (13930699)
1962
42
Favism. (20326465)
1960
43
Favism in a Cypriot child. (13828644)
1960
44
Favism--report of a case. (14400102)
1959
45
Nature of favism; case presentation]. (13211128)
1954
46
Favism in Cyprus; analysis of 67 cases admitted to Nicosia General Hospital during the last 3 years. (14926361)
1952
47
Favism. (14887294)
1951
48
Favism in childhood; a case report. (14884561)
1951
49
Favism in Israel. (14888076)
1951
50
Favism. (18879460)
1948

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 variantPathogenicrs1050828GRCh37Chr X, 153764217: 153764217
2G6PDNM_000402.4(G6PD): c.1058T> C (p.Leu353Pro)single nucleotide variantPathogenicrs76723693GRCh37Chr X, 153761240: 153761240
3G6PDNM_000402.4(G6PD): c.583A> G (p.Asn195Asp)single nucleotide variantPathogenicrs137852331GRCh37Chr X, 153762704: 153762704
4G6PDNM_000402.4(G6PD): c.292G> A (p.Val98Met)single nucleotide variantPathogenicrs1050828GRCh37Chr X, 153764217: 153764217
5G6PDNM_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:00318389.3HBA1, HBB

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1pentose-phosphate shuntGO:000609810.2G6PD, PGD
2acute-phase responseGO:000695310.1HP, UGT1A1
3triglyceride metabolic processGO:000664110.1CAT, G6PC
4response to hydrogen peroxideGO:00425429.8HBB, HP
5protein heterooligomerizationGO:00512919.6HBA1, HBB
6steroid metabolic processGO:00082029.5G6PC, UGT1A1
7receptor-mediated endocytosisGO:00068989.3HBA1, HBB, HP
8small molecule metabolic processGO:00442818.4G6PC, G6PD, HBA1, PGD, UGT1A1

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

idNameGO IDScoreTop Affiliating Genes
1antioxidant activityGO:001620910.1CAT, HP
2haptoglobin bindingGO:00317209.7HBA1, HBB
3peroxidase activityGO:00046019.3HBA1, HBB
4oxygen bindingGO:00198259.3HBD, HBE1
5oxygen transporter activityGO:00053449.1HBA1, HBD, HBE1

Sources for Favism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet