VEL
MCID: BLD162
MIFTS: 19

Blood Group, Vel System (VEL)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, Vel System

MalaCards integrated aliases for Blood Group, Vel System:

Name: Blood Group, Vel System 57
Blood Group System, Vel 39
Vel Blood Group System 6
Vel 57

Characteristics:

OMIM®:

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

Miscellaneous:
clinical manifestations only occur if vel-negative individuals have anti-vel antibodies and are transfused with vel-positive blood
antibodies can develop after pregnancy or transfusion


HPO:

31
blood group, vel system:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615264
MedGen 41 C2745907
SNOMED-CT via HPO 68 258211005

Summaries for Blood Group, Vel System

OMIM® : 57 The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by Daniels, 2002; Storry et al., 2013; Cvejic et al., 2013; Ballif et al., 2013). (615264) (Updated 20-May-2021)

MalaCards based summary : Blood Group, Vel System, also known as blood group system, vel, is related to myeloma, multiple and sensory peripheral neuropathy. An important gene associated with Blood Group, Vel System is SMIM1 (Small Integral Membrane Protein 1 (Vel Blood Group)). Affiliated tissues include kidney, bone and liver.

Related Diseases for Blood Group, Vel System

Graphical network of the top 20 diseases related to Blood Group, Vel System:



Diseases related to Blood Group, Vel System

Symptoms & Phenotypes for Blood Group, Vel System

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
acute hemolytic transfusion reaction when transfused with vel-positive blood

Clinical features from OMIM®:

615264 (Updated 20-May-2021)

Drugs & Therapeutics for Blood Group, Vel System

Search Clinical Trials , NIH Clinical Center for Blood Group, Vel System

Genetic Tests for Blood Group, Vel System

Anatomical Context for Blood Group, Vel System

MalaCards organs/tissues related to Blood Group, Vel System:

40
Kidney, Bone, Liver

Publications for Blood Group, Vel System

Articles related to Blood Group, Vel System:

# Title Authors PMID Year
1
Disruption of SMIM1 causes the Vel- blood type. 57 6
23505126 2013
2
Homozygosity for a null allele of SMIM1 defines the Vel-negative blood group phenotype. 57 6
23563606 2013
3
SMIM1 underlies the Vel blood group and influences red blood cell traits. 6 57
23563608 2013
4
Seven Ve-a (Vel) negative members in three generations of a family. 57
13761495 1961
5
[New blood factor: Vel]. 57
13004554 1952
6
SMIM1 at a glance; discovery, genetic basis, recent progress and perspectives. 61
30906890 2019
7
[Pedigree investigation and genetic analysis of a case with Vel heterozygous deletion mutation]. 61
29188623 2017
8
The Vel blood group system: a review. 61
28657763 2017
9
The Vel blood group system. 61
5026468 1972
10
Current status of the Vel blood group system. 61
13918506 1962

Variations for Blood Group, Vel System

ClinVar genetic disease variations for Blood Group, Vel System:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMIM1 NM_001163724.2(SMIM1):c.64_80del (p.Ser22fs) Deletion Affects 50826 rs566629828 GRCh37: 1:3691998-3692014
GRCh38: 1:3775434-3775450

Expression for Blood Group, Vel System

Search GEO for disease gene expression data for Blood Group, Vel System.

Pathways for Blood Group, Vel System

GO Terms for Blood Group, Vel System

Sources for Blood Group, Vel System

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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