MCID: BLD146
MIFTS: 16

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 57
nor Polyagglutination Syndrome 57 13
Blood Group, P1pk System, P(2) Phenotype 57
Blood Group, P1pk System, P Phenotype 57
Blood Group, P1pk System, P Phenotype 57
Blood Group System, P1pk 40

Characteristics:

HPO:

32
blood group, p1pk system:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 111400
SNOMED-CT via HPO 69 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

Clinical features from OMIM:

111400

Human phenotypes related to Blood Group, P1pk System:

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

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

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 A4GALT NM_017436.6(A4GALT): c.631C> G (p.Gln211Glu) single nucleotide variant Affects rs397514502 GRCh38 Chromosome 22, 42693321: 42693321
2 A4GALT NM_017436.6(A4GALT): c.631C> G (p.Gln211Glu) single nucleotide variant Affects rs397514502 GRCh37 Chromosome 22, 43089327: 43089327
3 B3GALNT1 NM_003781.3(B3GALNT1): c.797A> C (p.Glu266Ala) single nucleotide variant Affects rs28937582 GRCh38 Chromosome 3, 161085958: 161085958
4 B3GALNT1 NM_003781.3(B3GALNT1): c.797A> C (p.Glu266Ala) single nucleotide variant Affects rs28937582 GRCh37 Chromosome 3, 160803746: 160803746
5 B3GALNT1 NM_003781.3(B3GALNT1): c.811G> A (p.Gly271Arg) single nucleotide variant Affects rs104893683 GRCh38 Chromosome 3, 161085944: 161085944
6 B3GALNT1 NM_003781.3(B3GALNT1): c.811G> A (p.Gly271Arg) single nucleotide variant Affects rs104893683 GRCh37 Chromosome 3, 160803732: 160803732
7 B3GALNT1 B3GALT3, 1-BP INS, 537A insertion Affects
8 B3GALNT1 B3GALT3, 202C-T single nucleotide variant Affects
9 A4GALT NM_017436.6(A4GALT): c.1029dupC (p.Thr344Hisfs) duplication Affects rs387906280 GRCh38 Chromosome 22, 42692923: 42692923
10 A4GALT NM_017436.6(A4GALT): c.1029dupC (p.Thr344Hisfs) duplication Affects rs387906280 GRCh37 Chromosome 22, 43088929: 43088929
11 A4GALT NM_017436.6(A4GALT): c.240_242delCTT (p.Phe81del) deletion Affects rs387906279 GRCh38 Chromosome 22, 42693710: 42693712
12 A4GALT NM_017436.6(A4GALT): c.240_242delCTT (p.Phe81del) deletion Affects rs387906279 GRCh37 Chromosome 22, 43089716: 43089718
13 A4GALT NM_017436.6(A4GALT): c.560G> A (p.Gly187Asp) single nucleotide variant Affects rs28940572 GRCh38 Chromosome 22, 42693392: 42693392
14 A4GALT NM_017436.6(A4GALT): c.560G> A (p.Gly187Asp) single nucleotide variant Affects rs28940572 GRCh37 Chromosome 22, 43089398: 43089398
15 A4GALT NM_017436.6(A4GALT): c.783G> A (p.Trp261Ter) single nucleotide variant Affects rs74315454 GRCh38 Chromosome 22, 42693169: 42693169
16 A4GALT NM_017436.6(A4GALT): c.783G> A (p.Trp261Ter) single nucleotide variant Affects rs74315454 GRCh37 Chromosome 22, 43089175: 43089175
17 A4GALT NM_017436.6(A4GALT): c.752C> T (p.Pro251Leu) single nucleotide variant Affects rs28940571 GRCh38 Chromosome 22, 42693200: 42693200
18 A4GALT NM_017436.6(A4GALT): c.752C> T (p.Pro251Leu) single nucleotide variant Affects rs28940571 GRCh37 Chromosome 22, 43089206: 43089206
19 A4GALT NM_017436.6(A4GALT): c.548T> A (p.Met183Lys) single nucleotide variant Affects rs74315453 GRCh38 Chromosome 22, 42693404: 42693404
20 A4GALT NM_017436.6(A4GALT): c.548T> A (p.Met183Lys) single nucleotide variant Affects rs74315453 GRCh37 Chromosome 22, 43089410: 43089410

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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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