MCID: BMB001
MIFTS: 29

Bombay Phenotype

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Bombay Phenotype

MalaCards integrated aliases for Bombay Phenotype:

Name: Bombay Phenotype 57 29 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bombay phenotype:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616754
MedGen 42 C1859408
SNOMED-CT via HPO 69 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)

MalaCards based summary : Bombay Phenotype is related to primary thrombocytopenia and autoimmune disease of blood. 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 bone and neutrophil.

Wikipedia : 76 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

Anatomical Context for Bombay Phenotype

MalaCards organs/tissues related to Bombay Phenotype:

41
Bone, Neutrophil

Publications for Bombay Phenotype

Articles related to Bombay Phenotype:

(show all 39)
# Title Authors Year
1
c.49T>C mutation on the I+-(1,2)-fucosyltransferase gene responsible for an individual with para-Bombay phenotype. ( 29441582 )
2018
2
First Case of Renal Transplantation Involving a Donor with Bombay Phenotype Blood Group. ( 29515310 )
2018
3
AB para-Bombay phenotype: a rare blood group variant and its clinical significance. ( 30057978 )
2018
4
Sequence analysis of α-(1, 2)-fucosyltransferase gene in nine Chinese individuals with Para-Bombay phenotype. ( 30217757 )
2018
5
Bombay phenotype (Oh ) and high-titer anti-H in pregnancy: two case reports and a review of the literature. ( 30260479 )
2018
6
Heterozygous FUT1 Mutations Causing a Para-Bombay Phenotype. ( 30336518 )
2018
7
A Case of Para-Bombay Phenotype Caused by Homozygous Mutation of the FUT1 Gene. ( 28777074 )
2017
8
Indian Bombay phenotype: it is different! ( 27416578 )
2017
9
Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT1 deletion. ( 26926997 )
2016
10
Perioperative Management of Mitral Valve Replacement in an Individual With Bombay Phenotype. ( 27039113 )
2016
11
Molecular genetic analysis of para-Bombay phenotype in Chinese persons: a novel FUT1 allele is identified. ( 25858679 )
2015
12
Acute Hemolytic Transfusion Reaction in a Patient with Bombay Phenotype: Implications for ABO Grouping. ( 25332552 )
2014
13
A rare case of haemolytic disease of newborn with Bombay phenotype mother. ( 24014949 )
2013
14
Unanticipated blood loss and management of a patient with bombay phenotype coming for bone flap replacement: a lesson learnt. ( 23552279 )
2013
15
[Para-Bombay phenotype caused by combined heterozygote of two bases deletion on fut1 alleles]. ( 21362257 )
2011
16
A novel FUT1 allele was identified in a Chinese individual with para-Bombay phenotype. ( 21988368 )
2011
17
[Analysis of alpha-1,2-fucosyltransferase gene mutations in a Chinese family with para-Bombay phenotype]. ( 20533259 )
2010
18
Bombay phenotype in two North Indian brothers: a case report. ( 18306606 )
2007
19
Bombay phenotype in Orissa: What could we make out of it? ( 21957352 )
2007
20
Bombay phenotype is associated with reduced plasma-VWF levels and an increased susceptibility to ADAMTS13 proteolysis. ( 15886321 )
2005
21
[Study on the molecular genetics basis for one para-Bombay phenotype]. ( 16403295 )
2005
22
An unusual anti-H lectin inhibited by milk from individuals with the Bombay phenotype. ( 15783298 )
2005
23
[Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype]. ( 15192820 )
2004
24
An Alu-mediated large deletion of the FUT2 gene in individuals with the ABO-Bombay phenotype. ( 10982186 )
2000
25
Novel mutations, including a novel G659A missense mutation, of the FUT1 gene are responsible for the para-Bombay phenotype. ( 11045762 )
2000
26
Two missense mutations of H type alpha(1,2)fucosyltransferase gene (FUT1) responsible for para-Bombay phenotype. ( 9031498 )
1997
27
Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system. ( 9299444 )
1997
28
Para Bombay phenotype--a case report. ( 9444871 )
1997
29
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. ( 1488976 )
1992
30
Blood transfusion in the para-Bombay phenotype. ( 2207009 )
1990
31
The para-Bombay phenotype in Chinese persons. ( 3629667 )
1987
32
A case of para-Bombay phenotype Bhm (OBHm). ( 3936956 )
1985
33
H-deficient blood groups of Reunion island. II. Differences between Indians (Bombay Phenotype) and whites (Reunion phenotype). ( 6859043 )
1983
34
The clinical significance of anti-H in an individual with the Oh (Bombay) phenotype. ( 726022 )
1978
35
Letter: Bombay phenotype. ( 936276 )
1976
36
Variations in the Le a in Oh (Bombay) phenotype during pregnancy. ( 5567467 )
1971
37
Genetics of the Bombay phenotype. ( 5763629 )
1969
38
Rare blood groups and consanguinity: (Bombay) phenotype. ( 13868826 )
1962
39
Eleven cases of "Bombay" phenotype in six families: suppression of ABO antigen demonstrated in two families. ( 13710639 )
1961

Variations for Bombay Phenotype

ClinVar genetic disease variations for Bombay Phenotype:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FUT1 NM_000148.3(FUT1): c.948C> G (p.Tyr316Ter) single nucleotide variant Affects rs104894686 GRCh37 Chromosome 19, 49253591: 49253591
2 FUT1 NM_000148.3(FUT1): c.948C> G (p.Tyr316Ter) single nucleotide variant Affects rs104894686 GRCh38 Chromosome 19, 48750334: 48750334
3 FUT1 NM_000148.3(FUT1): c.725T> G (p.Leu242Arg) single nucleotide variant Affects rs28934588 GRCh37 Chromosome 19, 49253814: 49253814
4 FUT1 NM_000148.3(FUT1): c.725T> G (p.Leu242Arg) single nucleotide variant Affects rs28934588 GRCh38 Chromosome 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 FUT1 FUT2
2 10.05 FUT1 FUT2

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 extracellular matrix GO:0031012 8.96 ADAMTS13 VWF
2 Golgi cisterna membrane GO:0032580 8.62 FUT1 FUT2

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

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

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 9.26 FUT1 FUT2
2 integrin binding GO:0005178 9.16 ADAMTS13 VWF
3 fucosyltransferase activity GO:0008417 8.96 FUT1 FUT2
4 galactoside 2-alpha-L-fucosyltransferase activity GO:0008107 8.62 FUT1 FUT2

Sources for Bombay Phenotype

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....