MCID: FVS001
MIFTS: 44

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 malaria 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 are FoxO family signaling and Carbon metabolism. Affiliated tissues include testes, lung and breast.

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 166)
idRelated DiseaseScoreTop Affiliating Genes
1malaria29.4G6PD, HBA1, HBB, HP
2glucosephosphate dehydrogenase deficiency12.1
3g6pd-related altered drug metabolism11.5
46-phosphogluconate dehydrogenase deficiency10.6
5breast cancer10.4
6vestibular nystagmus10.4G6PD, HP
7corneal disease10.2G6PD, UGT1A1
8brill-zinsser disease10.2CAT, G6PD
9bronchus cancer10.2HBA1, HBE1
10lacrimal gland adenocarcinoma10.2G6PC, G6PD
11neuronitis10.2
12neonatal jaundice10.2G6PD, UGT1A1
13bilirubin metabolic disorder10.2G6PD, UGT1A1
14wernicke encephalopathy10.2G6PD, UGT1A1
15immunodeficiency, centromere instability and facial anomalies syndrome10.1CAT, G6PD
16auditory system disease10.1G6PD, HP, UGT1A1
17rheumatoid arthritis10.1
18renal cell carcinoma10.1
19arthritis10.1
20prostatitis10.1
21keratosis10.1
22adenoma10.1
23chronic fatigue syndrome10.1
24measles10.1
25endotheliitis10.1
26hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities10.1HBB, HP
27actinic prurigo10.1HBA1, HBB
28gaba-transaminase deficiency10.1HBA1, HBB
29rheumatic fever10.0G6PD, HBB
30degenerative disc disease10.0G6PD, PGD
31pulmonary alveolar proteinosis10.0HBA1, HBB
32composite lymphoma10.0G6PD, HP
33parathyroid carcinoma10.0
34prostate cancer10.0
35ovarian hyperstimulation syndrome10.0
36hepatocellular carcinoma10.0
37bacteremia10.0
38hepatitis c virus10.0
39celiac disease10.0
40marfan syndrome10.0
41wiskott-aldrich syndrome10.0
42adrenoleukodystrophy10.0
43pulmonary hypertension10.0
44gas gangrene10.0
45hemangioma10.0
46hematopoietic stem cell transplantation10.0
47hepatitis10.0
48hydrocephalus10.0
49leukemia10.0
50sinusitis10.0

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
Testes, Lung, Breast, Endothelial, Heart, Prostate, 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 159)
idTitleAuthorsYear
1
Chronic tonsillitis is not associated with beta defensin 1 gene polymorphisms in Turkish population. (25683590)
2015
2
A genome-scale in vivo loss-of-function screen identifies Phf6 as a lineage-specific regulator of leukemia cell growth. (25737277)
2015
3
Safety and Patient Acceptability of Stellate Ganglion Blockade as a Treatment Adjunct for Combat-Related Post-Traumatic Stress Disorder: A Quality Assurance Initiative. (26487996)
2015
4
Identification and characterization of the interactive proteins with cytotoxic T-lymphocyte antigen-2I+. (25514977)
2015
5
Prenatally identified Pallister-Killian syndrome: Ultrasound pattern and diagnostic considerations. (26471928)
2015
6
Prognostic factors in patients with uterine carcinosarcoma: a multi-institutional retrospective study from the Japanese Gynecologic Oncology Group. (26084780)
2015
7
Comparative diagnostic and prognostic performances of the hematoxylin-eosin and phospho-histone H3 mitotic count and Ki-67 index in adrenocortical carcinoma. (24434900)
2014
8
Effects of Gentamicin Monotherapy for the Initial Treatment of Community-Onset Complicated Non-Obstructive Acute Pyelonephritis Due to Enterobacteriaceae in Elderly and Non-Elderly Women. (24909648)
2014
9
Neurobiology and treatment of adolescent female conduct disorder: FemNAT-CD consortium: a new European cooperation. (24682583)
2014
10
Common polymorphism in the cannabinoid type 1 receptor gene (CNR1) is associated with microvascular complications in type 2 diabetes. (24075694)
2014
11
TGM2: a cell surface marker in esophageal adenocarcinomas. (24828664)
2014
12
Pathogenicity of an H5N1 highly pathogenic avian influenza virus isolated in the 2010-2011 winter in Japan to mandarin ducks. (23318574)
2013
13
Effects of the FSH-I^-subunit promoter polymorphism -211G->T on the hypothalamic-pituitary-ovarian axis in normally cycling women indicate a gender-specific regulation of gonadotropin secretion. (23118424)
2013
14
Iatrogenic colorectal Kaposi sarcoma complicating a refractory ulcerative colitis in a human immunodeficiency negative-virus patient. (24396560)
2013
15
Fatigue, stress and coping in mothers of children with an autism spectrum disorder. (23124359)
2013
16
The dynamics of oral lichen planus: a retrospective clinicopathological study. (22160614)
2012
17
Leucine-rich protein 130 contributes to apoptosis resistance of human hepatocarcinoma cells. (21109938)
2011
18
Phase I safety and immunogenicity evaluation of MVA-CMDR, a multigenic, recombinant modified vaccinia Ankara-HIV-1 vaccine candidate. (21085591)
2010
19
Bezafibrate treatment of primary biliary cirrhosis following incomplete response to ursodeoxycholic acid. (19881358)
2010
20
Three common TP53 polymorphisms in susceptibility to breast cancer, evidence from meta-analysis. (19657731)
2010
21
Targeting antibiotics to households for trachoma control. (21072225)
2010
22
Leydig cell tumor: a report of two cases with unusual presentation. (21045421)
2010
23
alpha-Catenin as a tension transducer that induces adherens junction development. (20453849)
2010
24
Genetics of autoimmune and collagen diseases]. (19507500)
2009
25
RAKing in AKT: a tumor suppressor function for the intracellular tyrosine kinase FRK. (19652529)
2009
26
Does effective management of sleep disorders reduce substance dependence? (20047351)
2009
27
Spinal angiolipoma: case report and literature review. (18795485)
2008
28
Detection of EGFR gene mutations using the wash fluid of CT-guided biopsy needle in NSCLC patients. (18448998)
2008
29
Vascular endothelial growth factor production by circulating immune cells is elevated in ovarian hyperstimulation syndrome. (17356124)
2007
30
Novel human pathological mutations. Gene symbol: FZD4. Disease: exudative vitreoretinopathy. (18350654)
2007
31
Apoptosis induction by Bid requires unconventional ubiquitination and degradation of its N-terminal fragment. (18166654)
2007
32
Psychophysiological and behavioural characteristics of individuals comorbid for antisocial personality disorder and schizophrenia-spectrum personality disorder. (17978320)
2007
33
Human albumin solution for resuscitation and volume expansion in critically ill patients. (17120476)
2006
34
Lower Extremity Arterial Occlusive Disease: Role of Percutaneous Revascularization. (15935118)
2005
35
Evidence for p62 aggregate formation: role in cell survival. (16129434)
2005
36
Molecular basis of beta-thalassemia in the population of Tunisia. (15481884)
2004
37
Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. (12682296)
2003
38
Monoclonal gammopathies of undetermined significance: a review. (12846812)
2003
39
Global gene expression analysis of gastric cancer by oligonucleotide microarrays. (11782383)
2002
40
Regional differences in the developing cerebral cortex revealed by ephrin-A5 expression. (10498278)
1999
41
A third fibronectin type III domain in the extracellular region of the insulin receptor family. (9883910)
1998
42
Non-traditional risk factors for atherosclerosis in high risk children. (9007167)
1996
43
Flow cytometric identification of cell surface markers on cultured human colonic cell lines using monoclonal antibodies. (8625091)
1995
44
The glycoprotein Ib-IX complex-specific monoclonal antibody SZ1 binds to a conformation-sensitive epitope on glycoprotein IX: implications for the target antigen of quinine/quinidine-dependent autoantibodies. (7532036)
1995
45
Demonstration of entrainment and presence of slow conduction during ventricular tachycardia in arrhythmogenic right ventricular dysplasia. (7513402)
1994
46
Hydrogen bond interactions of G proteins with the guanine ring moiety of guanine nucleotides. (8142894)
1994
47
Lupus anticoagulant IgG's (LA) are not directed to phospholipids only, but to a complex of lipid-bound human prothrombin. (1796407)
1991
48
Inhibition of electrically evoked contractions of guinea-pig ileum preparations mediated by the histamine H3 receptor. (1963151)
1990
49
Stenotic semilunar valve in persistent truncus arteriosus. (1248273)
1976
50
MEGABULBUS OF THE DUODENUM IN THE ADULT. REPORT OF A CASE ASSOCIATED WITH ANNULAR PANCREAS AND ULCERATION. (14116902)
1964

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