JMH
MCID: BLD160
MIFTS: 10

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 29 6
Blood Group, John-Milton-Hagen System 57
Blood Group System, John Milton Hagen 40
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)

MalaCards based summary : Blood Group, John Milton Hagen System, is also known as john milton hagen blood group system. 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

Symptoms & Phenotypes for Blood Group, John Milton Hagen System

Clinical features from OMIM:

614745

Drugs & Therapeutics for Blood Group, John Milton Hagen System

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Genetic Tests for Blood Group, John Milton Hagen System

Genetic tests related to Blood Group, John Milton Hagen System:

# Genetic test Affiliating Genes
1 John Milton Hagen Blood Group System 29 SEMA7A

Anatomical Context for Blood Group, John Milton Hagen System

Publications for Blood Group, John Milton Hagen System

Variations for Blood Group, John Milton Hagen System

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEMA7A NM_003612.4(SEMA7A): c.620G> A (p.Arg207Gln) single nucleotide variant Affects rs55637216 GRCh37 Chromosome 15, 74709717: 74709717
2 SEMA7A NM_003612.4(SEMA7A): c.620G> A (p.Arg207Gln) single nucleotide variant Affects rs55637216 GRCh38 Chromosome 15, 74417376: 74417376
3 SEMA7A NM_003612.4(SEMA7A): c.619C> T (p.Arg207Trp) single nucleotide variant Affects rs56367230 GRCh37 Chromosome 15, 74709718: 74709718
4 SEMA7A NM_003612.4(SEMA7A): c.619C> T (p.Arg207Trp) single nucleotide variant Affects rs56367230 GRCh38 Chromosome 15, 74417377: 74417377
5 SEMA7A NM_003612.4(SEMA7A): c.1379G> A (p.Arg460His) single nucleotide variant Affects rs56204206 GRCh37 Chromosome 15, 74704269: 74704269
6 SEMA7A NM_003612.4(SEMA7A): c.1379G> A (p.Arg460His) single nucleotide variant Affects rs56204206 GRCh38 Chromosome 15, 74411928: 74411928
7 SEMA7A NM_003612.4(SEMA7A): c.1381C> T (p.Arg461Cys) single nucleotide variant Affects rs56001514 GRCh37 Chromosome 15, 74704267: 74704267
8 SEMA7A NM_003612.4(SEMA7A): c.1381C> T (p.Arg461Cys) single nucleotide variant Affects rs56001514 GRCh38 Chromosome 15, 74411926: 74411926
9 SEMA7A NM_003612.4(SEMA7A): c.1040G> T (p.Arg347Leu) single nucleotide variant Affects rs387907241 GRCh37 Chromosome 15, 74707234: 74707234
10 SEMA7A NM_003612.4(SEMA7A): c.1040G> T (p.Arg347Leu) single nucleotide variant Affects rs387907241 GRCh38 Chromosome 15, 74414893: 74414893

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

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