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
Ge 57

Classifications:



External Ids:

OMIM 57 616089
MedGen 42 C1292300

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 periventricular nodular heterotopia 8 and chickenpox. 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

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 top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 periventricular nodular heterotopia 8 11.3
2 chickenpox 10.7
3 herpes simplex 10.7
4 rapidly involuting congenital hemangioma 10.7
5 triiodothyronine receptor auxiliary protein 10.5
6 hair whorl 10.4
7 vaccinia 10.3
8 herpes zoster 10.3
9 plague 10.3
10 pulmonary hypertension, primary, 3 10.2
11 malaria 10.2
12 hereditary elliptocytosis 10.2
13 hemolytic disease due to fetomaternal alloimmunization 10.2
14 pulmonary hypertension, primary, 2 10.2
15 deficiency anemia 10.2
16 esophageal cancer 10.1
17 anemia, autoimmune hemolytic 10.1
18 fibrosarcoma 10.1
19 hemolytic anemia 10.1
20 47,xyy 10.1
21 overgrowth syndrome 10.1
22 polykaryocytosis inducer 10.0
23 rheumatoid arthritis 10.0
24 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
25 immune deficiency disease 10.0
26 osteogenic sarcoma 10.0
27 body mass index quantitative trait locus 1 10.0
28 hypotrichosis and recurrent skin vesicles 10.0
29 bile acid malabsorption, primary 10.0
30 laryngotracheitis 10.0
31 gastroenteritis 10.0
32 skin carcinoma 10.0
33 systemic scleroderma 10.0
34 severe combined immunodeficiency 10.0
35 malignant hyperthermia 10.0
36 48,xyyy 10.0
37 dysphagia 10.0
38 obsolete: atypical teratoid/rhabdoid tumor 10.0
39 rare surgical neurologic disease 10.0
40 gastroesophageal reflux 9.9
41 albinism, oculocutaneous, type vi 9.9
42 colorectal cancer 9.9
43 multiple sclerosis 9.9
44 hand skill, relative 9.9
45 hypertriglyceridemia, familial 9.9
46 porphyria, acute intermittent 9.9
47 spondylosis, cervical 9.9
48 down syndrome 9.9
49 suppressor of tumorigenicity 3 9.9
50 kuru 9.9

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:

32
# Description HPO Frequency HPO Source Accession
1 blood group antigen abnormality 32 HP:0010970
2 elliptocytosis 32 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 29 GYPC

Anatomical Context for Blood Group, Gerbich System

Publications for Blood Group, Gerbich System

Articles related to Blood Group, Gerbich System:

(show all 30)
# Title Authors PMID Year
1
The Gerbich blood group system: a review. 38 8
20932076 2010
2
The Gerbich blood group system, especially in Melanesians. 38 8
5011657 1972
3
Molecular analysis of glycophorin C deficiency in human erythrocytes. 8
7683929 1993
4
Point mutation in the glycophorin C gene results in the expression of the blood group antigen Dha. 71
1413665 1992
5
Erythrocyte Webb-type glycophorin C variant lacks N-glycosylation due to an asparagine to serine substitution. 71
1902622 1991
6
Molecular characterization of erythrocyte glycophorin C variants. 71
1991173 1991
7
Immunochemical characterisation of the low-incidence antigen, Dha. 71
1719701 1991
8
Inheritance of human-erythrocyte Gerbich blood group antigens. 8
3479901 1987
9
Gerbich blood group deficiency of the Ge:-1,-2,-3 and Ge:-1,-2,3 types. Immunochemical study and genomic analysis with cDNA probes. 8
3595602 1987
10
Gerbich reactivity in 4.1 (-) hereditary elliptocytosis and protein 4.1 level in blood group Gerbich deficiency. 8
3814526 1987
11
The inheritance of abnormal sialoglycoproteins found in a Gerbich negative individual. 8
3822519 1986
12
The Webb (Wb) antigen in South Wales donors. 71
3539763 1986
13
The membrane skeleton of human erythrocytes and its implications for more complex cells. 8
3161450 1985
14
Glycophorin C and the invasion of red cells by Plasmodium falciparum. 8
6143210 1984
15
Two individuals with elliptocytic red cells apparently lack three minor erythrocyte membrane sialoglycoproteins. 8
6712635 1984
16
Duch, Dha. A low frequency red cell antigen. 71
7095818 1982
17
A "new" blood group antigen Webb (Wb) of low frequency found in two Australian families. 71
13977437 1963
18
The Gerbich blood group system: old knowledge, new importance. 38
29540278 2018
19
Genetic background of the rare Yus and Gerbich blood group phenotypes: homologous regions of the GYPC gene contribute to deletion alleles. 38
28272739 2017
20
Recombinant glycophorins C and D as tools for studying Gerbich blood group antigens. 38
15043573 2004
21
Recombinant forms of glycophorin C as a tool for characterization of epitopes for new murine monoclonal antibodies with anti-glycophorin C specificity. 38
11982968 2002
22
New murine monoclonal antibodies directed against glycophorins C and D, have anti-Ge2 specificity. 38
9501408 1998
23
Molecular basis of glycophorin C variants and their associated blood group antigens. 38
7921050 1994
24
Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. 38
1884026 1991
25
[Molecular and genetic bases of the Gerbich blood-group system of human erythrocytes]. 38
1819798 1991
26
High-frequency antigens of human erythrocyte membrane sialoglycoproteins. VI. Monoclonal antibodies reacting with the N-terminal domain of glycophorin C. 38
2590468 1989
27
High frequency antigens of human erythrocyte membrane sialoglycoproteins, V. Characterization of the Gerbich blood group antigens: Ge2 and Ge3. 38
3426806 1987
28
The Gerbich blood group system in New Guinea. 3. The Madang District, the Highlands, the New Guinea Islands and the South Papuan Coast. 38
4650181 1972
29
The Gerbich blood group system in New Guinea. II. The Morobe District and North Papuan Coast. 38
4650180 1972
30
Gerbich blood group system: a useful genetic marker in certain Melanesians of Papua and New Guinea. 38
5482497 1970

Variations for Blood Group, Gerbich System

ClinVar genetic disease variations for Blood Group, Gerbich System:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GYPC NM_002101.4(GYPC): c.50_106del (p.Ala23_Met41del) deletion Affects rs1553469573 2:127447831-127447887 2:126690255-126690311
2 GYPC NM_002101.5(GYPC): c.23A> G (p.Asn8Ser) single nucleotide variant Affects rs121912760 2:127413862-127413862 2:126656286-126656286
3 GYPC NM_002101.5(GYPC): c.40C> T (p.Leu14Phe) single nucleotide variant Affects rs121912761 2:127413879-127413879 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

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71 Tocris
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73 UMLS via Orphanet
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