JMH
MCID: BLD160
MIFTS: 14

Blood Group, John Milton Hagen System (JMH)

Categories: Blood diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Blood Group, John Milton Hagen System

MalaCards integrated aliases for Blood Group, John Milton Hagen System:

Name: Blood Group, John Milton Hagen System 57
John Milton Hagen Blood Group System 57 6
Blood Group, John-Milton-Hagen System 57
Blood Group System, John Milton Hagen 39
Jmh Blood Group System 57
Jmh 57

Classifications:



External Ids:

OMIM® 57 614745

Summaries for Blood Group, John Milton Hagen System

OMIM® : 57 JMH blood group antigens are carried by SEMA7A, a membrane-associated protein that plays important roles in the nervous system and immune responses. Three different JMH phenotypes have been identified based on the presence or absence of the high-frequency JMH (or JMH1) antigen: JMH-weak, JMH-negative, and JMH-variant. The JMH-weak and -negative phenotypes can be either acquired or inherited and are characterized by a reduction or complete loss of JMH expression on red blood cells (RBCs), often with concomitant occurrence of JMH antibodies. Acquired JMH-weak or -negative phenotypes are typically found in elderly persons and can be transient. The JMH antibodies present in the acquired phenotypes have autoimmune characteristics and are clinically irrelevant. The inherited JMH-negative phenotype has been found in only 1 family. Mechanisms underlying the JMH-weak and -negative phenotypes have yet to be identified. Individuals with the JMH-variant phenotype are usually JMH-positive and have alloantibodies compatible with JMH-negative RBCs. The JMH-variant phenotype results from rare missense mutations in the SEMA7A gene (summary by Seltsam et al. (2007) and Richard et al. (2011)). (614745) (Updated 20-May-2021)

MalaCards based summary : Blood Group, John Milton Hagen System, also known as john milton hagen blood group system, is related to paroxysmal nocturnal hemoglobinuria and hemoglobinuria. An important gene associated with Blood Group, John Milton Hagen System is SEMA7A (Semaphorin 7A (John Milton Hagen Blood Group)).

Related Diseases for Blood Group, John Milton Hagen System

Diseases related to Blood Group, John Milton Hagen System via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paroxysmal nocturnal hemoglobinuria 9.9
2 hemoglobinuria 9.9

Symptoms & Phenotypes for Blood Group, John Milton Hagen System

Clinical features from OMIM®:

614745 (Updated 20-May-2021)

Drugs & Therapeutics for Blood Group, John Milton Hagen System

Search Clinical Trials , NIH Clinical Center for Blood Group, John Milton Hagen System

Genetic Tests for Blood Group, John Milton Hagen System

Anatomical Context for Blood Group, John Milton Hagen System

Publications for Blood Group, John Milton Hagen System

Articles related to Blood Group, John Milton Hagen System:

# Title Authors PMID Year
1
A new SEMA7A variant found in Native Americans with alloantibody. 6 57
20854351 2011
2
The molecular diversity of Sema7A, the semaphorin that carries the JMH blood group antigens. 6 57
17207242 2007
3
New eukaryotic semaphorins with close homology to semaphorins of DNA viruses. 57
9721204 1998
4
JMH blood group system: a review. 61
25238240 2014

Variations for Blood Group, John Milton Hagen System

ClinVar genetic disease variations for Blood Group, John Milton Hagen System:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SEMA7A NM_003612.5(SEMA7A):c.620G>A (p.Arg207Gln) SNV Affects 35576 rs55637216 GRCh37: 15:74709717-74709717
GRCh38: 15:74417376-74417376
2 SEMA7A NM_003612.5(SEMA7A):c.619C>T (p.Arg207Trp) SNV Affects 35577 rs56367230 GRCh37: 15:74709718-74709718
GRCh38: 15:74417377-74417377
3 SEMA7A NM_003612.5(SEMA7A):c.1379G>A (p.Arg460His) SNV Affects 35578 rs56204206 GRCh37: 15:74704269-74704269
GRCh38: 15:74411928-74411928
4 SEMA7A NM_003612.5(SEMA7A):c.1381C>T (p.Arg461Cys) SNV Affects 35579 rs56001514 GRCh37: 15:74704267-74704267
GRCh38: 15:74411926-74411926
5 SEMA7A NM_003612.5(SEMA7A):c.1040G>T (p.Arg347Leu) SNV Affects 35580 rs387907241 GRCh37: 15:74707234-74707234
GRCh38: 15:74414893-74414893
6 SEMA7A NM_003612.5(SEMA7A):c.618_619del (p.Ile206fs) Deletion Uncertain significance 638185 rs761366929 GRCh37: 15:74709718-74709719
GRCh38: 15:74417377-74417378
7 SEMA7A NM_003612.5(SEMA7A):c.916G>A (p.Val306Ile) SNV Likely benign 638186 rs563651407 GRCh37: 15:74708212-74708212
GRCh38: 15:74415871-74415871

Expression for Blood Group, John Milton Hagen System

Search GEO for disease gene expression data for Blood Group, John Milton Hagen System.

Pathways for Blood Group, John Milton Hagen System

GO Terms for Blood Group, John Milton Hagen System

Sources for Blood Group, John Milton Hagen 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
Content
Loading form....