GE
MCID: BLD164
MIFTS: 21

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 58 30 6
Gerbich Blood Group System 58
Ges 77
Ge 58

Classifications:



External Ids:

OMIM 58 616089
MedGen 43 C1292300
SNOMED-CT via HPO 70 178935009 191169008 250242004

Summaries for Blood Group, Gerbich System

OMIM : 58 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 periventricular nodular heterotopia 8 and herpes simplex. An important gene associated with Blood Group, Gerbich System is GYPC (Glycophorin C (Gerbich Blood Group)). Related phenotypes are blood group antigen abnormality and elliptocytosis

Wikipedia : 77 The killdeer (Charadrius vociferus) is a large plover found in the Americas. It was described and given... more...

Related Diseases for Blood Group, Gerbich System

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 8 11.2
2 herpes simplex 10.5
3 retinoblastoma 10.4
4 chickenpox 10.2
5 streptococcal group a invasive disease 10.2
6 intraocular pressure quantitative trait locus 10.1
7 hemolytic anemia 10.1
8 plague 10.1
9 rapidly involuting congenital hemangioma 10.1
10 nodular lymphocyte predominant hodgkin lymphoma 10.1
11 anemia, autoimmune hemolytic 10.1
12 isolated optic neuritis 10.1
13 multiple sclerosis 10.0
14 tetralogy of fallot 10.0
15 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
16 disorganization, mouse, homolog of 10.0
17 retinitis pigmentosa 10.0
18 horns in sheep 10.0
19 laryngotracheitis 10.0
20 adenocarcinoma 10.0
21 radin blood group antigen 9.8
22 rheumatoid arthritis 9.8
23 suppressor of tumorigenicity 3 9.8
24 kuru 9.8
25 welander distal myopathy 9.8
26 meningioma, familial 9.8
27 myocardial infarction 9.8
28 myocardial infarction 2 9.8
29 granulomatosis with polyangiitis 9.8
30 arthritis 9.8
31 morbid obesity 9.8
32 cardiac arrest 9.8
33 spinal meningioma 9.8
34 hemopericardium 9.8
35 pericardial effusion 9.8
36 patulous eustachian tube 9.8
37 lymphadenitis 9.8
38 chondromalacia 9.8
39 congenital nonspherocytic hemolytic anemia 9.8
40 vaccinia 9.8
41 gastric adenocarcinoma 9.8
42 secretory meningioma 9.8
43 aortic disease 9.8
44 juvenile rheumatoid arthritis 9.8
45 influenza 9.8
46 xanthogranulomatous cholecystitis 9.8
47 glucosephosphate isomerase deficiency 9.8

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

Human phenotypes related to Blood Group, Gerbich System:

33
# Description HPO Frequency HPO Source Accession
1 blood group antigen abnormality 33 HP:0010970
2 elliptocytosis 33 HP:0004445

Clinical features from OMIM:

616089

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 30

Anatomical Context for Blood Group, Gerbich System

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 rs1553469573 GRCh38 Chromosome 2, 126690255: 126690311
2 GYPC NM_002101.4(GYPC): c.50_106del57 (p.Ala23_Met41del) deletion Affects rs1553469573 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 EFO
18 ExPASy
20 FMA
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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