GE
MCID: BLD164
MIFTS: 22

Blood Group, Gerbich System (GE)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, Gerbich System

MalaCards integrated aliases for Blood Group, Gerbich System:

Name: Blood Group, Gerbich System 57 29 6
Gerbich Blood Group System 57
Ges 76
Ge 57

Classifications:



External Ids:

OMIM 57 616089
MedGen 42 C1292300
SNOMED-CT via HPO 69 178935009 191169008 250242004

Summaries for Blood Group, Gerbich System

OMIM : 57 The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see 611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by Walker and Reid, 2010). (616089)

MalaCards based summary : Blood Group, Gerbich System, also known as gerbich blood group system, is related to herpes simplex and retinoblastoma. An important gene associated with Blood Group, Gerbich System is GYPC (Glycophorin C (Gerbich Blood Group)). Affiliated tissues include bone, and related phenotypes are blood group antigen abnormality and elliptocytosis

Wikipedia : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

Related Diseases for Blood Group, Gerbich System

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



Diseases related to Blood Group, Gerbich System

Symptoms & Phenotypes for Blood Group, Gerbich System

Clinical features from OMIM:

616089

Human phenotypes related to Blood Group, Gerbich System:

32
# Description HPO Frequency HPO Source Accession
1 blood group antigen abnormality 32 HP:0010970
2 elliptocytosis 32 HP:0004445

Drugs & Therapeutics for Blood Group, Gerbich System

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

Genetic Tests for Blood Group, Gerbich System

Genetic tests related to Blood Group, Gerbich System:

# Genetic test Affiliating Genes
1 Blood Group, Gerbich System 29 GYPC

Anatomical Context for Blood Group, Gerbich System

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

41
Bone

Publications for Blood Group, Gerbich System

Articles related to Blood Group, Gerbich System:

# Title Authors Year
1
The Gerbich blood group system: old knowledge, new importance. ( 29540278 )
2018
2
The Gerbich blood group system: a review. ( 20932076 )
2010
3
The Gerbich blood group system in New Guinea. II. The Morobe District and North Papuan Coast. ( 4650180 )
1972
4
The Gerbich blood group system in New Guinea. 3. The Madang District, the Highlands, the New Guinea Islands and the South Papuan Coast. ( 4650181 )
1972
5
The Gerbich blood group system, especially in Melanesians. ( 5011657 )
1972
6
Gerbich blood group system: a useful genetic marker in certain Melanesians of Papua and New Guinea. ( 5482497 )
1970

Variations for Blood Group, Gerbich System

ClinVar genetic disease variations for Blood Group, Gerbich System:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GYPC NM_002101.4(GYPC): c.50_106del57 (p.Ala23_Met41del) deletion Affects GRCh38 Chromosome 2, 126690255: 126690311
2 GYPC NM_002101.4(GYPC): c.50_106del57 (p.Ala23_Met41del) deletion Affects GRCh37 Chromosome 2, 127447831: 127447887
3 GYPC NM_002101.4(GYPC): c.23A> G (p.Asn8Ser) single nucleotide variant Affects rs121912760 GRCh37 Chromosome 2, 127413862: 127413862
4 GYPC NM_002101.4(GYPC): c.23A> G (p.Asn8Ser) single nucleotide variant Affects rs121912760 GRCh38 Chromosome 2, 126656286: 126656286
5 GYPC NM_002101.4(GYPC): c.40C> T (p.Leu14Phe) single nucleotide variant Affects rs121912761 GRCh37 Chromosome 2, 127413879: 127413879
6 GYPC NM_002101.4(GYPC): c.40C> T (p.Leu14Phe) single nucleotide variant Affects rs121912761 GRCh38 Chromosome 2, 126656303: 126656303

Expression for Blood Group, Gerbich System

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

Pathways for Blood Group, Gerbich System

GO Terms for Blood Group, Gerbich System

Sources for Blood Group, Gerbich System

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
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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
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