MCID: BMB001
MIFTS: 32

Bombay Phenotype

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Bombay Phenotype

MalaCards integrated aliases for Bombay Phenotype:

Name: Bombay Phenotype 57 29 6
Bombay Phenotype, Digenic 57 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bombay phenotype:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616754
MedGen 42 C1859408

Summaries for Bombay Phenotype

OMIM : 57 Two main types of recessive H-deficient red cell phenotypes are recognized: (1) the nonsecretor classic Bombay type (h null and se (FUT2; 182100) null) with H deficiency of both red cells and saliva, and (2) the secretor Bombay type (h null, Se heterozygous) with H deficiency in red cells but normal ABH in secretions. The latter has been designated para-Bombay phenotype. Under this 2-locus model, the H blood group locus determines expression of the H antigen (as well as the A and/or B antigens) in the erythroid lineage, whereas the SE locus controls H expression (and thus A or B antigen expression) in a variety of secretory epithelia and in saliva. Bombay and para-Bombay individuals display no apparent deleterious phenotype except in circumstances requiring blood transfusion, wherein they are cross-match incompatible with all donors except other H-deficient individuals (summary by Kelly et al., 1994). (616754)

MalaCards based summary : Bombay Phenotype, also known as bombay phenotype, digenic, is related to tetralogy of fallot and endocardial fibroelastosis. An important gene associated with Bombay Phenotype is FUT2 (Fucosyltransferase 2), and among its related pathways/superpathways are Globo Sphingolipid Metabolism and Glycosphingolipid biosynthesis - lacto and neolacto series. Affiliated tissues include heart, prostate and testes.

Wikipedia : 75 The h/h blood group, also known as Oh or the Bombay blood group, is a rare blood type. This blood... more...

Related Diseases for Bombay Phenotype

Graphical network of the top 20 diseases related to Bombay Phenotype:



Diseases related to Bombay Phenotype

Symptoms & Phenotypes for Bombay Phenotype

Symptoms via clinical synopsis from OMIM:

57
Hematology:
h antigen absent on red cells
anti-h in serum

Clinical features from OMIM:

616754

Drugs & Therapeutics for Bombay Phenotype

Search Clinical Trials , NIH Clinical Center for Bombay Phenotype

Genetic Tests for Bombay Phenotype

Genetic tests related to Bombay Phenotype:

# Genetic test Affiliating Genes
1 Bombay Phenotype 29 FUT1 FUT2

Anatomical Context for Bombay Phenotype

MalaCards organs/tissues related to Bombay Phenotype:

41
Heart, Prostate, Testes, Bone, Neutrophil

Publications for Bombay Phenotype

Articles related to Bombay Phenotype:

(showing 112, show less)
# Title Authors PMID Year
1
Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups. 38 8 71
9745152 1998
2
Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. 38 8 71
9299444 1997
3
Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. 8 71
7912436 1994
4
An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype. 38 71
10982186 2000
5
H-deficient blood groups of Reunion Island. III. alpha-2-L-fucosyltransferase activity in sera of homozygous and heterozygous individuals. 38 8
6859044 1983
6
H-deficient blood groups of Reunion island. II. Differences between Indians (Bombay Phenotype) and whites (Reunion phenotype). 38 8
6859043 1983
7
Genetics of the Bombay phenotype. 38 8
5763629 1969
8
The presence of at least two different H-blood-group-related beta-D-gal alpha-2-L-fucosyltransferases in human serum and the genetics of blood group H substances. 8
9556663 1985
9
H-deficient blood groups ( Bombay) of Reunion Island. 8
7180848 1982
10
A new genetic model proposing that the Se gene is a structural gene closely linked to the H gene. 8
7246545 1981
11
Bombay (Oh) phenotype in two generations in an Indian family. 8
1251594 1976
12
New variants in the ABOH blood group system due to interaction of recessive genes controlling the formation of H antigen in erythrocytes: the 'Bombay'-like phenotypes OHm, OBHm and OABHm. 8
5312629 1970
13
Gene interaction resulting in suppression of blood group substance B. 8
13269394 1955
14
[Identification of a novel FUT1 allele of para-Bombay phenotype]. 38
31055825 2019
15
An update on the H blood group system. 38
31246492 2019
16
Retrospective analysis of forward and reverse ABO typing discrepancies among patients and blood donors in a tertiary care hospital. 38
29327382 2019
17
Mutational Analysis of Bombay Phenotype in Iranian People: Identification of a Novel FUT1 Allele. 38
30988570 2019
18
Sequence analysis of α-(1, 2)-fucosyltransferase gene in nine Chinese individuals with Para-Bombay phenotype. 38
30217757 2019
19
Bombay phenotype (Oh ) and high-titer anti-H in pregnancy: two case reports and a review of the literature. 38
30260479 2018
20
Blood Diathesis in a Patient of Rare Blood Group 'Bombay Phenotype'. 38
30613450 2018
21
Heterozygous FUT1 Mutations Causing a Para-Bombay Phenotype. 38
30336518 2018
22
A Very Rare Case with Particular H-deficient Phenotypes. 38
30369771 2018
23
Rare blood donor needed. 38
29664201 2018
24
Four Non-functional FUT1 Alleles Were Identified in Seven Chinese Individuals with Para-Bombay Phenotypes. 38
30186784 2018
25
Para-Bombay phenotype: A case report from a tertiary care hospital from South Gujarat. 38
30692808 2018
26
Enhancement of red blood cell transfusion compatibility using CRISPR-mediated erythroblast gene editing. 38
29700043 2018
27
c.49T>C mutation on the α-(1,2)-fucosyltransferase gene responsible for an individual with para-Bombay phenotype. 38
29441582 2018
28
AB para-Bombay phenotype: a rare blood group variant and its clinical significance. 38
30057978 2018
29
First Case of Renal Transplantation Involving a Donor with Bombay Phenotype Blood Group. 38
29515310 2018
30
Erythrocyte phenotype in a pregnant woman of Sri Lanka. Description of the case and complications related to communication problems. 38
29616672 2018
31
A Case of Para-Bombay Phenotype Caused by Homozygous Mutation of the FUT1 Gene. 38
28777074 2017
32
[Serological and molecular analysis of a case with para-Bombay phenotype caused by a h328(nt328G to A) mutation]. 38
28604973 2017
33
Indian Bombay phenotype: it is different! 38
27416578 2017
34
Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual. 38
28026021 2017
35
Perioperative Management of Mitral Valve Replacement in an Individual With Bombay Phenotype. 38
27039113 2016
36
The H blood group system. 38
27834485 2016
37
Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT1 deletion. 38
26926997 2016
38
[Serological Characteristics and Family Survey of 3 Cases of H-deficient Blood Group]. 38
27342532 2016
39
Perioperative management of patient with Bombay blood group undergoing mitral valve replacement. 38
26903676 2015
40
[Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype]. 38
26663060 2015
41
Genomic analysis of para-Bombay individuals in south-eastern China: the possibility of linkage and disequilibrium between FUT1 and FUT2. 38
25761312 2015
42
Bombay blood group: Is prevalence decreasing with urbanization and the decreasing rate of consanguineous marriage. 38
26420929 2015
43
Molecular genetic analysis of para-Bombay phenotype in Chinese persons: a novel FUT1 allele is identified. 38
25858679 2015
44
Detection of rare blood group, Bombay (Oh) phenotype patients and management by acute normovolemic hemodilution. 38
25722578 2015
45
Acute Hemolytic Transfusion Reaction in a Patient with Bombay Phenotype: Implications for ABO Grouping. 38
25332552 2014
46
Emergency dilatation and curettage in a patient with Bombay blood group. 38
25149844 2014
47
[Formation of para-Bombay phenotype caused by homozygous or heterozygous mutation of FUT1 gene]. 38
24598677 2014
48
The summary of FUT1 and FUT2 genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China. 38
23560544 2013
49
A rare case of haemolytic disease of newborn with Bombay phenotype mother. 38
24014949 2013
50
Unanticipated blood loss and management of a patient with bombay phenotype coming for bone flap replacement: a lesson learnt. 38
23552279 2013
51
[Genetic analysis of an individual with para-Bombay phenotype]. 38
23568727 2013
52
Transfusion reaction in a case with the rare Bombay blood group. 38
23559776 2013
53
C35T mutation could slightly decrease the activity of human α-(1,2)-fucosyltransferase. 38
22266267 2012
54
A novel FUT1 allele was identified in a Chinese individual with para-Bombay phenotype. 38
21988368 2011
55
[Study on the expression stability of mutant alpha-1,2 fucosyltransferase gene 293C to T and 658C to T in eukaryotic cells]. 38
21983725 2011
56
The Bombay blood group: are we out of risk? 38
21804525 2011
57
[Para-Bombay phenotype caused by combined heterozygote of two bases deletion on fut1 alleles]. 38
21362257 2011
58
Urgent replacement of a mechanical mitral prosthesis in an anticoagulated patient with Bombay red blood cell phenotype. 38
20306240 2010
59
[Analysis of alpha-1,2-fucosyltransferase gene mutations in a Chinese family with para-Bombay phenotype]. 38
20533259 2010
60
Generation of human induced pluripotent stem cells from a Bombay individual: moving towards "universal-donor" red blood cells. 38
19912985 2010
61
Murine monoclonal anti-H as typing reagent. 38
19287061 2009
62
Studies on the ABH-Iso-Agglutinins in serum, saliva and milk from mothers with "Bombay" (Oh) phenotype. 38
20041088 2009
63
The expression and characterization of a bifunctional protein in E. coli for autologous erythrocyte agglutination test. 38
18761818 2008
64
Bombay phenotype in two North Indian brothers: a case report. 38
18306606 2007
65
Bombay phenotype in Orissa: What could we make out of it? 38
21957352 2007
66
[Molecular genetic basis for para-Bombay phenotypes in two cases]. 38
17605880 2007
67
Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and Para-Bombay phenotypes. 38
17176328 2006
68
H-deficient Bombay and para-Bombay red blood cells are most strongly agglutinated by the galactophilic lectins of Aplysia and Pseudomonas aeruginosa that detect I and P1 antigens. 38
16563047 2006
69
[Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population]. 38
16331565 2005
70
[Study on the molecular genetics basis for one para-Bombay phenotype]. 38
16403295 2005
71
Bombay phenotype is associated with reduced plasma-VWF levels and an increased susceptibility to ADAMTS13 proteolysis. 38
15886321 2005
72
Molecular basis for para-Bombay phenotypes in Chinese persons, including a novel nonfunctional FUT1 allele. 38
15847661 2005
73
An unusual anti-H lectin inhibited by milk from individuals with the Bombay phenotype. 38
15783298 2005
74
[Analysis on FUT1 and FUT2 gene of 10 para-Bombay individuals in China]. 38
15476160 2004
75
[Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype]. 38
15192820 2004
76
Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese. 38
15487706 2004
77
Molecular genetic analysis of para-Bombay phenotypes in Chinese: a novel non-functional FUT1 allele is identified. 38
12366770 2002
78
[Biochemical basis of the ABO system subgroups]. 38
11732114 2001
79
fucosyltransferase1 and H-type complex carbohydrates modulate epithelial cell proliferation during prostatic branching morphogenesis. 38
11319860 2001
80
A new h allele detected in Europe has a missense mutationin alpha(1,2)-fucosyltransferase motif II. 38
11161242 2001
81
Binding of rabbit hemorrhagic disease virus to antigens of the ABH histo-blood group family. 38
11090195 2000
82
Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype. 38
11045762 2000
83
Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populations. 38
10980544 2000
84
[Past and present studies on ABO blood group system]. 38
10077971 1998
85
Blood groups and transfusion medicine in Taiwan. 38
9444911 1997
86
Para Bombay phenotype--a case report. 38
9444871 1997
87
Two missense mutations of H type alpha(1,2)fucosyltransferase gene (FUT1) responsible for para-Bombay phenotype. 38
9031498 1997
88
Heterogeneity of the human H blood group alpha(1,2)fucosyltransferase gene among para-Bombay individuals. 38
9031499 1997
89
Citrate-dependent auto-antibody causing error in blood grouping. 38
9228713 1997
90
Prenatal diagnosis of Rambam-Hasharon syndrome. 38
8710783 1996
91
A Bombay individual lacking H and Le antigens but expressing normal levels of alpha-2- and alpha-4-fucosyltransferases. 38
7570940 1995
92
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. 38
1488976 1992
93
A Bangladeshi family with three sisters 'Bombay' or Oh phenotype. 38
2096814 1990
94
[A correction: the second case in South America of the Bombay phenotype]. 38
2152659 1990
95
Blood transfusion in the para-Bombay phenotype. 38
2207009 1990
96
[First case in South America of Bombay phenotype]. 38
2152695 1990
97
Murine monoclonal antibody with anti-e-like specificity: suitability for screening for e-negative cells. 38
2315996 1990
98
The para-Bombay phenotype in Chinese persons. 38
3629667 1987
99
A case of para-Bombay phenotype Bhm (OBHm). 38
3936956 1985
100
Biochemical evidence that secretor gene, Se, is a structural gene encoding a specific fucosyltransferase. 38
6588382 1984
101
[A new case of deficient H phenotype in a secretor]. 38
6665413 1983
102
A monoclonal antibody that precipitates the glycoprotein receptor for epidermal growth factor is directed against the human blood group H type 1 antigen. 38
6309836 1983
103
[Heart surgery in a female patient with blood group Oh (Bombay phenotype)]. 38
6600220 1983
104
[Diagnosis of para-Bombay phenotype - a rare variant of the ABO blood-group system]. 38
7184296 1982
105
Purification and properties of a novel fucose-specific hemagglutinin of Aleuria aurantia. 38
7397108 1980
106
The clinical significance of anti-H in an individual with the Oh (Bombay) phenotype. 38
726022 1978
107
[Relationship between the quantities of H substance before, and B substance after conversion of red blood cells by alpha-D-galactosyl transferase]. 38
600780 1977
108
Letter: Bombay phenotype. 38
936276 1976
109
Variations in the Le a in Oh (Bombay) phenotype during pregnancy. 38
5567467 1971
110
[Blood group substances decomposing enzymes. 31. Immunological properties of Bombay phenotype]. 38
5531499 1970
111
Rare blood groups and consanguinity: (Bombay) phenotype. 38
13868826 1962
112
Eleven cases of "Bombay" phenotype in six families: suppression of ABO antigen demonstrated in two families. 38
13710639 1961

Variations for Bombay Phenotype

ClinVar genetic disease variations for Bombay Phenotype:

6 (showing 3, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FUT1 NM_000148.3(FUT1): c.948C> G (p.Tyr316Ter) single nucleotide variant Affects rs104894686 19:49253591-49253591 19:48750334-48750334
2 FUT1 NM_000148.3(FUT1): c.725T> G (p.Leu242Arg) single nucleotide variant Pathogenic rs28934588 19:49253814-49253814 19:48750557-48750557
3 FUT2 FUT2, DEL deletion Pathogenic

Expression for Bombay Phenotype

Search GEO for disease gene expression data for Bombay Phenotype.

Pathways for Bombay Phenotype

Pathways related to Bombay Phenotype according to GeneCards Suite gene sharing:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.52 FUT2 FUT1
2 10.05 FUT2 FUT1

GO Terms for Bombay Phenotype

Cellular components related to Bombay Phenotype according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.65 ADAMTS13
2 Golgi cisterna membrane GO:0032580 8.62 FUT2 FUT1

Biological processes related to Bombay Phenotype according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.4 FUT2 FUT1
2 blood coagulation GO:0007596 9.37 VWF ADAMTS13
3 protein glycosylation GO:0006486 9.32 FUT2 FUT1
4 platelet activation GO:0030168 9.26 VWF ADAMTS13
5 hemostasis GO:0007599 9.16 VWF ADAMTS13
6 fucosylation GO:0036065 8.96 FUT2 FUT1
7 L-fucose catabolic process GO:0042355 8.62 FUT2 FUT1

Molecular functions related to Bombay Phenotype according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.26 FUT2 FUT1
2 integrin binding GO:0005178 9.16 VWF ADAMTS13
3 fucosyltransferase activity GO:0008417 8.96 FUT2 FUT1
4 galactoside 2-alpha-L-fucosyltransferase activity GO:0008107 8.62 FUT2 FUT1

Sources for Bombay Phenotype

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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