MCID: BLD146
MIFTS: 18

Blood Group, P1pk System

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, P1pk System

MalaCards integrated aliases for Blood Group, P1pk System:

Name: Blood Group, P1pk System 58
nor Polyagglutination Syndrome 58 13
Blood Group, P1pk System, P(2) Phenotype 58
Blood Group, P1pk System, P Phenotype 58
Blood Group, P1pk System, P Phenotype 58
Blood Group System, P1pk 41

Characteristics:

HPO:

33
blood group, p1pk system:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 111400
SNOMED-CT via HPO 70 263681008

Summaries for Blood Group, P1pk System

MalaCards based summary : Blood Group, P1pk System, is also known as nor polyagglutination syndrome. An important gene associated with Blood Group, P1pk System is B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside Blood Group)), and among its related pathways/superpathways are Globo Sphingolipid Metabolism and Glycosphingolipid biosynthesis - lacto and neolacto series. Related phenotype is blood group antigen abnormality.

Description from OMIM: 111400

Related Diseases for Blood Group, P1pk System

Symptoms & Phenotypes for Blood Group, P1pk System

Human phenotypes related to Blood Group, P1pk System:

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

Clinical features from OMIM:

111400

Drugs & Therapeutics for Blood Group, P1pk System

Search Clinical Trials , NIH Clinical Center for Blood Group, P1pk System

Genetic Tests for Blood Group, P1pk System

Anatomical Context for Blood Group, P1pk System

Publications for Blood Group, P1pk System

Articles related to Blood Group, P1pk System:

# Title Authors Year
1
A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome. ( 22965229 )
2012
2
Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene. ( 12023287 )
2002
3
Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype. ( 11896312 )
2002
4
Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins. ( 11782470 )
2002
5
Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype. ( 10747952 )
2000
6
NOR polyagglutination and Sta glycophorin in one family: relation of NOR polyagglutination to terminal alpha-galactose residues and abnormal glycolipids. ( 9920164 )
1999
7
An inherited RBC characteristic, NOR, resulting in erythrocyte polyagglutination. ( 7072192 )
1982

Variations for Blood Group, P1pk System

ClinVar genetic disease variations for Blood Group, P1pk System:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 B3GALNT1 B3GALT3, 202C-T single nucleotide variant Affects
2 B3GALNT1 B3GALT3, 1-BP INS, 537A insertion Affects
3 B3GALNT1 NM_003781.3(B3GALNT1): c.811G> A (p.Gly271Arg) single nucleotide variant Affects rs104893683 GRCh37 Chromosome 3, 160803732: 160803732
4 B3GALNT1 NM_003781.3(B3GALNT1): c.811G> A (p.Gly271Arg) single nucleotide variant Affects rs104893683 GRCh38 Chromosome 3, 161085944: 161085944
5 B3GALNT1 NM_003781.3(B3GALNT1): c.797A> C (p.Glu266Ala) single nucleotide variant Affects rs28937582 GRCh37 Chromosome 3, 160803746: 160803746
6 B3GALNT1 NM_003781.3(B3GALNT1): c.797A> C (p.Glu266Ala) single nucleotide variant Affects rs28937582 GRCh38 Chromosome 3, 161085958: 161085958
7 A4GALT NM_017436.6(A4GALT): c.631C> G (p.Gln211Glu) single nucleotide variant Affects rs397514502 GRCh38 Chromosome 22, 42693321: 42693321
8 A4GALT NM_017436.6(A4GALT): c.631C> G (p.Gln211Glu) single nucleotide variant Affects rs397514502 GRCh37 Chromosome 22, 43089327: 43089327
9 A4GALT NM_017436.6(A4GALT): c.1029dup (p.Thr344Hisfs) duplication Affects rs387906280 GRCh38 Chromosome 22, 42692923: 42692923
10 A4GALT NM_017436.6(A4GALT): c.1029dup (p.Thr344Hisfs) duplication Affects rs387906280 GRCh37 Chromosome 22, 43088929: 43088929
11 A4GALT NM_017436.6(A4GALT): c.560G> A (p.Gly187Asp) single nucleotide variant Affects rs28940572 GRCh38 Chromosome 22, 42693392: 42693392
12 A4GALT NM_017436.6(A4GALT): c.560G> A (p.Gly187Asp) single nucleotide variant Affects rs28940572 GRCh37 Chromosome 22, 43089398: 43089398
13 A4GALT NM_017436.6(A4GALT): c.783G> A (p.Trp261Ter) single nucleotide variant Affects rs74315454 GRCh38 Chromosome 22, 42693169: 42693169
14 A4GALT NM_017436.6(A4GALT): c.783G> A (p.Trp261Ter) single nucleotide variant Affects rs74315454 GRCh37 Chromosome 22, 43089175: 43089175
15 A4GALT NM_017436.6(A4GALT): c.752C> T (p.Pro251Leu) single nucleotide variant Affects rs28940571 GRCh38 Chromosome 22, 42693200: 42693200
16 A4GALT NM_017436.6(A4GALT): c.752C> T (p.Pro251Leu) single nucleotide variant Affects rs28940571 GRCh37 Chromosome 22, 43089206: 43089206
17 A4GALT NM_017436.6(A4GALT): c.548T> A (p.Met183Lys) single nucleotide variant Affects rs74315453 GRCh38 Chromosome 22, 42693404: 42693404
18 A4GALT NM_017436.6(A4GALT): c.548T> A (p.Met183Lys) single nucleotide variant Affects rs74315453 GRCh37 Chromosome 22, 43089410: 43089410
19 A4GALT NM_017436.6(A4GALT): c.240_242del (p.Phe81del) deletion Affects rs387906279 GRCh38 Chromosome 22, 42693710: 42693712
20 A4GALT NM_017436.6(A4GALT): c.240_242del (p.Phe81del) deletion Affects rs387906279 GRCh37 Chromosome 22, 43089716: 43089718

Expression for Blood Group, P1pk System

Search GEO for disease gene expression data for Blood Group, P1pk System.

Pathways for Blood Group, P1pk System

Pathways related to Blood Group, P1pk System according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.52 A4GALT B3GALNT1
2 10.05 A4GALT B3GALNT1

GO Terms for Blood Group, P1pk System

Cellular components related to Blood Group, P1pk System according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 8.62 A4GALT B3GALNT1

Biological processes related to Blood Group, P1pk System according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.62 A4GALT B3GALNT1

Molecular functions related to Blood Group, P1pk System according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.96 A4GALT B3GALNT1
2 galactosyltransferase activity GO:0008378 8.62 A4GALT B3GALNT1

Sources for Blood Group, P1pk System

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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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