MCID: BMB001
MIFTS: 31

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 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
bombay phenotype:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616754
MedGen 41 C1859408
SNOMED-CT via HPO 68 258211005

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) (Updated 20-May-2021)

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 FUT1 (Fucosyltransferase 1 (H Blood Group)), and among its related pathways/superpathways are Globo Sphingolipid Metabolism and Glycosphingolipid biosynthesis - lacto and neolacto series. Affiliated tissues include neutrophil, bone and heart.

Wikipedia : 73 hh, or the Bombay blood group, is a rare blood type. This blood phenotype was first discovered in... more...

Related Diseases for Bombay Phenotype

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 tetralogy of fallot 9.9
2 endocardial fibroelastosis 9.9
3 congenital disorder of glycosylation, type iic 9.9
4 microcephaly 9.9
5 dwarfism 9.9
6 hypotonia 9.9
7 hemolytic disease due to fetomaternal alloimmunization 9.9
8 thrombotic microangiopathy 9.8 VWF ADAMTS13
9 colorectal cancer 5 9.8 VWF ADAMTS13
10 acquired von willebrand syndrome 9.8 VWF ADAMTS13
11 splenic sequestration 9.8 VWF ADAMTS13
12 hypertensive retinopathy 9.8 VWF ADAMTS13
13 von willebrand disease, type 2 9.8 VWF ADAMTS13
14 von willebrand disease, type 3 9.8 VWF ADAMTS13
15 angiodysplasia 9.8 VWF ADAMTS13
16 primary thrombocytopenia 9.8 VWF ADAMTS13
17 malignant hypertension 9.8 VWF ADAMTS13
18 autoimmune disease of cardiovascular system 9.8 VWF ADAMTS13
19 von willebrand's disease 9.8 VWF ADAMTS13
20 thrombotic thrombocytopenic purpura 9.8 VWF ADAMTS13
21 purpura 9.8 VWF ADAMTS13
22 coronary stenosis 9.8 VWF ADAMTS13
23 disseminated intravascular coagulation 9.8 VWF ADAMTS13
24 antiphospholipid syndrome 9.8 VWF ADAMTS13
25 intracranial berry aneurysm 9.8 VWF ADAMTS13
26 portal hypertension 9.8 VWF ADAMTS13
27 hemolytic-uremic syndrome 9.8 VWF ADAMTS13
28 hellp syndrome 9.7 VWF ADAMTS13
29 hemolytic uremic syndrome, atypical 1 9.7 VWF ADAMTS13
30 blood platelet disease 9.7 VWF ADAMTS13
31 blood coagulation disease 9.7 VWF ADAMTS13
32 acute myocardial infarction 9.7 VWF ADAMTS13
33 cerebrovascular disease 9.6 VWF ADAMTS13
34 thrombosis 9.6 VWF ADAMTS13
35 diarrhea 9.4 FUT2 ADAMTS13
36 hemorrhagic disease 9.2 VWF FUT2 FUT1 ADAMTS13

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 (Updated 20-May-2021)
Hematology:
h antigen absent on red cells
anti-h in serum

Clinical features from OMIM®:

616754 (Updated 20-May-2021)

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:

40
Neutrophil, Bone, Heart

Publications for Bombay Phenotype

Articles related to Bombay Phenotype:

(show top 50) (show all 120)
# Title Authors PMID Year
1
Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups. 57 6 61
9745152 1998
2
Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. 6 57 61
9299444 1997
3
Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. 57 6
7912436 1994
4
An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype. 61 6
10982186 2000
5
H-deficient blood groups of Reunion island. II. Differences between Indians (Bombay Phenotype) and whites (Reunion phenotype). 61 57
6859043 1983
6
H-deficient blood groups of Reunion Island. III. alpha-2-L-fucosyltransferase activity in sera of homozygous and heterozygous individuals. 57 61
6859044 1983
7
Genetics of the Bombay phenotype. 61 57
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. 57
9556663 1985
9
H-deficient blood groups ( Bombay) of Reunion Island. 57
7180848 1982
10
A new genetic model proposing that the Se gene is a structural gene closely linked to the H gene. 57
7246545 1981
11
Bombay (Oh) phenotype in two generations in an Indian family. 57
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. 57
5312629 1970
13
Gene interaction resulting in suppression of blood group substance B. 57
13269394 1955
14
Transfusion practice blind spot in para-Bombay: A case report. 61
33574008 2021
15
Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing. 61
32992000 2020
16
Two novel FUT1 alleles that cause para-Bombay phenotype in a Chinese individual. 61
33175455 2020
17
Acute Normovolemic Hemodilution in a Patient with Para-Bombay Phenotype Scheduled for Laparoscopic Radical Gastrectomy: a Case Report and Review of the Literature. 61
33180441 2020
18
Immunohematological study of the first pediatric patient with the Bombay phenotype in Medellín, Colombia. 61
32402539 2020
19
Frequency and clinical significance of red cell antibodies in pregnancy - A prospective study from India. 61
32317523 2020
20
Blood Group Discrepancies at a Regional Blood Center. 61
32337013 2020
21
Identification of a Case with Heterozygous Mutations in the FUT1 Gene Leading to a Para-Bombay Phenotype. 61
31850709 2019
22
An update on the H blood group system. 61
31246492 2019
23
[Identification of a novel FUT1 allele of para-Bombay phenotype]. 61
31055825 2019
24
Mutational Analysis of Bombay Phenotype in Iranian People: Identification of a Novel FUT1 Allele. 61
30988570 2019
25
Retrospective analysis of forward and reverse ABO typing discrepancies among patients and blood donors in a tertiary care hospital. 61
29327382 2019
26
Sequence analysis of α-(1, 2)-fucosyltransferase gene in nine Chinese individuals with Para-Bombay phenotype. 61
30217757 2019
27
Bombay phenotype (Oh ) and high-titer anti-H in pregnancy: two case reports and a review of the literature. 61
30260479 2018
28
Heterozygous FUT1 Mutations Causing a Para-Bombay Phenotype. 61
30336518 2018
29
Blood Diathesis in a Patient of Rare Blood Group 'Bombay Phenotype'. 61
30613450 2018
30
A Very Rare Case with Particular H-deficient Phenotypes. 61
30369771 2018
31
Rare blood donor needed. 61
29664201 2018
32
Four Non-functional FUT1 Alleles Were Identified in Seven Chinese Individuals with Para-Bombay Phenotypes. 61
30186784 2018
33
Para-Bombay phenotype: A case report from a tertiary care hospital from South Gujarat. 61
30692808 2018
34
Enhancement of red blood cell transfusion compatibility using CRISPR-mediated erythroblast gene editing. 61
29700043 2018
35
c.49T>C mutation on the α-(1,2)-fucosyltransferase gene responsible for an individual with para-Bombay phenotype. 61
29441582 2018
36
AB para-Bombay phenotype: a rare blood group variant and its clinical significance. 61
30057978 2018
37
Erythrocyte phenotype in a pregnant woman of Sri Lanka. Description of the case and complications related to communication problems. 61
29616672 2018
38
First Case of Renal Transplantation Involving a Donor with Bombay Phenotype Blood Group. 61
29515310 2018
39
A Case of Para-Bombay Phenotype Caused by Homozygous Mutation of the FUT1 Gene. 61
28777074 2017
40
[Serological and molecular analysis of a case with para-Bombay phenotype caused by a h328(nt328G to A) mutation]. 61
28604973 2017
41
Indian Bombay phenotype: it is different! 61
27416578 2017
42
Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual. 61
28026021 2017
43
Perioperative Management of Mitral Valve Replacement in an Individual With Bombay Phenotype. 61
27039113 2016
44
The H blood group system. 61
27834485 2016
45
Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT1 deletion. 61
26926997 2016
46
[Serological Characteristics and Family Survey of 3 Cases of H-deficient Blood Group]. 61
27342532 2016
47
[Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype]. 61
26663060 2015
48
Perioperative management of patient with Bombay blood group undergoing mitral valve replacement. 61
26903676 2015
49
Bombay blood group: Is prevalence decreasing with urbanization and the decreasing rate of consanguineous marriage. 61
26420929 2015
50
Genomic analysis of para-Bombay individuals in south-eastern China: the possibility of linkage and disequilibrium between FUT1 and FUT2. 61
25761312 2015

Variations for Bombay Phenotype

ClinVar genetic disease variations for Bombay Phenotype:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FUT1 NM_001329877.1(FUT1):c.948C>G (p.Tyr316Ter) SNV Affects 12139 rs104894686 GRCh37: 19:49253591-49253591
GRCh38: 19:48750334-48750334
2 FUT1 NM_001329877.1(FUT1):c.725T>G (p.Leu242Arg) SNV Affects 12142 rs28934588 GRCh37: 19:49253814-49253814
GRCh38: 19:48750557-48750557
3 FUT2 FUT2, DEL Deletion Pathogenic 12947 GRCh37:
GRCh38:
4 FUT1 NM_001329877.1(FUT1):c.725T>G (p.Leu242Arg) SNV Pathogenic 12142 rs28934588 GRCh37: 19:49253814-49253814
GRCh38: 19:48750557-48750557

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 Golgi cisterna membrane GO:0032580 8.62 FUT2 FUT1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.48 VWF ADAMTS13
2 carbohydrate metabolic process GO:0005975 9.46 FUT2 FUT1
3 blood coagulation GO:0007596 9.43 VWF ADAMTS13
4 protein glycosylation GO:0006486 9.4 FUT2 FUT1
5 platelet activation GO:0030168 9.37 VWF ADAMTS13
6 regulation of cell adhesion GO:0030155 9.32 FUT2 FUT1
7 hemostasis GO:0007599 9.26 VWF ADAMTS13
8 fucosylation GO:0036065 9.16 FUT2 FUT1
9 L-fucose catabolic process GO:0042355 8.96 FUT2 FUT1
10 regulation of endothelial cell proliferation GO:0001936 8.62 FUT2 FUT1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.32 FUT2 FUT1
2 integrin binding GO:0005178 9.26 VWF ADAMTS13
3 fucosyltransferase activity GO:0008417 9.16 FUT2 FUT1
4 alpha-(1,2)-fucosyltransferase activity GO:0031127 8.96 FUT2 FUT1
5 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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