MCID: BLD146
MIFTS: 27

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
P1pk Blood Group System, P(2) Phenotype 6
Blood Group, P1pk System, P Phenotype 57
Blood Group, P1pk System, P Phenotype 57
P1pk Blood Group System, P Phenotype 6
Blood Group System, P1pk 39

Characteristics:

HPO:

31
blood group, p1pk system:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 111400
SNOMED-CT via HPO 68 263681008

Summaries for Blood Group, P1pk System

MalaCards based summary : Blood Group, P1pk System, also known as nor polyagglutination syndrome, is related to caffey disease and melnick-needles syndrome. An important gene associated with Blood Group, P1pk System is A4GALT (Alpha 1,4-Galactosyltransferase (P 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.

Wikipedia : 73 P1PK (formerly: P) is a human blood group system (International Society of Blood Transfusion system 003)... more...

More information from OMIM: 111400

Related Diseases for Blood Group, P1pk System

Diseases in the Blood Group--Ul System family:

Blood Group, I System Blood Group, P1pk System

Diseases related to Blood Group, P1pk System via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 caffey disease 9.6 COL1A1 A4GALT
2 melnick-needles syndrome 9.5 B3GALNT1 A4GALT
3 hyperostosis 9.5 COL1A1 A4GALT

Symptoms & Phenotypes for Blood Group, P1pk System

Human phenotypes related to Blood Group, P1pk System:

31
# Description HPO Frequency HPO Source Accession
1 blood group antigen abnormality 31 HP:0010970

Clinical features from OMIM®:

111400 (Updated 05-Apr-2021)

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:

(show all 36)
# Title Authors PMID Year
1
A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome. 57 6
22965229 2012
2
Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. 6 57
20971946 2011
3
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. 6 57
12023287 2002
4
Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype. 57 6
11896312 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. 57 6
10747952 2000
6
NOR polyagglutination and Sta glycophorin in one family: relation of NOR polyagglutination to terminal alpha-galactose residues and abnormal glycolipids. 6 57
9920164 1999
7
An inherited RBC characteristic, NOR, resulting in erythrocyte polyagglutination. 57 6
7072192 1982
8
Prenatal cortical hyperostosis with COL1A1 gene mutation. 6
18553566 2008
9
Expanding the phenotypic spectrum of Caffey disease. 6
17309652 2007
10
Structures of unique globoside elongation products present in erythrocytes with a rare NOR phenotype. 57
17118951 2007
11
Polyagglutinable NOR red blood cells found in an American family and a Polish family have the same unique glycosphingolipids. 57
16836581 2006
12
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. 6
15864348 2005
13
The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle. 57
12888565 2003
14
Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins. 6
11782470 2002
15
Structure of a neutral glycosphingolipid recognized by human antibodies in polyagglutinable erythrocytes from the rare NOR phenotype. 57
11504714 2001
16
Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals. 57
10993874 2000
17
P1 blood group phenotype, secretor status in patients with urinary tract infections. 57
8719549 1995
18
The P blood group system: biochemical, serological, and clinical aspects. 57
7795329 1995
19
Association of the Lewis blood-group phenotype with recurrent urinary tract infections in women. 57
2922027 1989
20
A linkage and physical map of chromosome 22, and some applications to gene mapping. 57
2893546 1988
21
Gal-Gal binding and hemolysin phenotypes and genotypes associated with uropathogenic Escherichia coli. 57
2862582 1985
22
Immunoglobulin subclass (IgG3) restriction of anti-P and anti-Pk antibodies in patients of the rare p blood group. 57
3964810 1985
23
Anti-PP1Pk and early abortion. 57
6879680 1983
24
Correlation of P blood group, vesicoureteral reflux, and bacterial attachment in patients with recurrent pyelonephritis. 57
6341837 1983
25
Bacterial adherence--a pathogenetic mechanism in urinary tract infections caused by Escherichia coli. 57
6338511 1983
26
A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2. 57
6221990 1983
27
P-antigen-recognizing fimbriae from human uropathogenic Escherichia coli strains. 57
6125477 1982
28
The P blood group system: recent progress in immunochemistry and genetics. 57
7010611 1981
29
A genetic model for the inheritance of the P, P1 and Pk antigens. 57
6772545 1980
30
Adhesion to normal human uroepithelial cells of Escherichia coli from children with various forms of urinary tract infection. 57
357693 1978
31
Is the DIA1 locus linked to the P blood group locus? 57
752557 1978
32
Abnormalities in the glycosphingolipid content of human Pk and p erythrocytes. 57
1067617 1976
33
Variable adherence to normal human urinary-tract epithelial cells of Escherichia coli strains associated with various forms of urinary-tract infection. 57
74461 1976
34
An immunochemical study of the human blood group P1, P, and PK glycosphingolipid antigens. 57
1182122 1975
35
Population studies in northern Sweden. IV. Frequency of the blood type p. 57
4805484 1973
36
[Probable linkage between the locus "HLA" and"P"]. 57
4997730 1971

Variations for Blood Group, P1pk System

ClinVar genetic disease variations for Blood Group, P1pk System:

6 (show top 50) (show all 188)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B3GALNT1 NM_003781.4(B3GALNT1):c.202C>T (p.Arg68Ter) SNV Affects 6633 rs200235398 GRCh37: 3:160804341-160804341
GRCh38: 3:161086553-161086553
2 B3GALNT1 NM_003781.4(B3GALNT1):c.537dup (p.Asp180fs) Duplication Affects 6634 rs751995528 GRCh37: 3:160804005-160804006
GRCh38: 3:161086217-161086218
3 B3GALNT1 NM_003781.4(B3GALNT1):c.811G>A (p.Gly271Arg) SNV Affects 6635 rs104893683 GRCh37: 3:160803732-160803732
GRCh38: 3:161085944-161085944
4 B3GALNT1 NM_003781.4(B3GALNT1):c.797A>C (p.Glu266Ala) SNV Affects 6636 rs28937582 GRCh37: 3:160803746-160803746
GRCh38: 3:161085958-161085958
5 A4GALT NM_017436.7(A4GALT):c.238_240TTC[1] (p.Phe81del) Microsatellite Affects 2696 rs387906279 GRCh37: 22:43089715-43089717
GRCh38: 22:42693709-42693711
6 A4GALT NM_017436.7(A4GALT):c.1029dup (p.Thr344fs) Duplication Affects 2697 rs387906280 GRCh37: 22:43088928-43088929
GRCh38: 22:42692922-42692923
7 A4GALT NM_017436.7(A4GALT):c.560G>A (p.Gly187Asp) SNV Affects 2695 rs28940572 GRCh37: 22:43089398-43089398
GRCh38: 22:42693392-42693392
8 A4GALT NM_017436.7(A4GALT):c.783G>A (p.Trp261Ter) SNV Affects 2694 rs74315454 GRCh37: 22:43089175-43089175
GRCh38: 22:42693169-42693169
9 A4GALT NM_017436.7(A4GALT):c.752C>T (p.Pro251Leu) SNV Affects 2693 rs28940571 GRCh37: 22:43089206-43089206
GRCh38: 22:42693200-42693200
10 A4GALT NM_017436.7(A4GALT):c.548T>A (p.Met183Lys) SNV Affects 2692 rs74315453 GRCh37: 22:43089410-43089410
GRCh38: 22:42693404-42693404
11 A4GALT NM_017436.7(A4GALT):c.631C>G (p.Gln211Glu) SNV Affects 39437 rs397514502 GRCh37: 22:43089327-43089327
GRCh38: 22:42693321-42693321
12 A4GALT NM_017436.7(A4GALT):c.42C>T (p.Gly14=) SNV Pathogenic 39436 rs778598915 GRCh37: 22:43089916-43089916
GRCh38: 22:42693910-42693910
13 COL1A1 NM_000088.3(COL1A1):c.994G>A (p.Gly332Arg) SNV Pathogenic 17312 rs72645357 GRCh37: 17:48273524-48273524
GRCh38: 17:50196163-50196163
14 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) SNV Pathogenic 425597 rs72648326 GRCh37: 17:48272649-48272649
GRCh38: 17:50195288-50195288
15 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) SNV Pathogenic 17347 rs72653170 GRCh37: 17:48266269-48266269
GRCh38: 17:50188908-50188908
16 COL1A1 NM_000088.3(COL1A1):c.2089C>T (p.Arg697Ter) SNV Pathogenic 287320 rs72651642 GRCh37: 17:48269187-48269187
GRCh38: 17:50191826-50191826
17 COL1A1 NM_000088.3(COL1A1):c.1821+1G>A SNV Pathogenic 425580 rs66555264 GRCh37: 17:48270354-48270354
GRCh38: 17:50192993-50192993
18 COL1A1 NM_000088.3(COL1A1):c.1243C>T (p.Arg415Ter) SNV Pathogenic 425597 rs72648326 GRCh37: 17:48272649-48272649
GRCh38: 17:50195288-50195288
19 COL1A1 NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) SNV Pathogenic 17347 rs72653170 GRCh37: 17:48266269-48266269
GRCh38: 17:50188908-50188908
20 COL1A1 NM_000088.3(COL1A1):c.2362G>A (p.Gly788Ser) SNV Pathogenic 447141 rs67879854 GRCh37: 17:48267939-48267939
GRCh38: 17:50190578-50190578
21 COL1A1 NM_000088.3(COL1A1):c.1299+1G>A SNV Pathogenic 425599 rs66490707 GRCh37: 17:48272592-48272592
GRCh38: 17:50195231-50195231
22 COL1A1 NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) SNV Likely pathogenic 450546 rs1555574303 GRCh37: 17:48273533-48273533
GRCh38: 17:50196172-50196172
23 COL1A1 NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu) SNV Likely pathogenic 1029481 GRCh37: 17:48264870-48264870
GRCh38: 17:50187509-50187509
24 COL1A1 NM_000088.4(COL1A1):c.3769del (p.Arg1257fs) Deletion Likely pathogenic 982708 GRCh37: 17:48264046-48264046
GRCh38: 17:50186685-50186685
25 COL1A1 NM_000088.3(COL1A1):c.*243_*244dup Duplication Conflicting interpretations of pathogenicity 324088 rs56302025 GRCh37: 17:48262618-48262619
GRCh38: 17:50185257-50185258
26 COL1A1 NM_000088.3(COL1A1):c.3099+7T>C SNV Uncertain significance 324105 rs201682029 GRCh37: 17:48266096-48266096
GRCh38: 17:50188735-50188735
27 COL1A1 NM_000088.4(COL1A1):c.*836C>T SNV Uncertain significance 889832 GRCh37: 17:48262027-48262027
GRCh38: 17:50184666-50184666
28 COL1A1 NM_000088.4(COL1A1):c.*356T>A SNV Uncertain significance 889896 GRCh37: 17:48262507-48262507
GRCh38: 17:50185146-50185146
29 COL1A1 NM_000088.4(COL1A1):c.*73C>A SNV Uncertain significance 889274 GRCh37: 17:48262790-48262790
GRCh38: 17:50185429-50185429
30 COL1A1 NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) SNV Uncertain significance 890021 GRCh37: 17:48263696-48263696
GRCh38: 17:50186335-50186335
31 COL1A1 NM_000088.4(COL1A1):c.*1151C>T SNV Uncertain significance 891320 GRCh37: 17:48261712-48261712
GRCh38: 17:50184351-50184351
32 COL1A1 NM_000088.3(COL1A1):c.3424-6C>A SNV Uncertain significance 324101 rs370865189 GRCh37: 17:48264489-48264489
GRCh38: 17:50187128-50187128
33 COL1A1 NM_000088.3(COL1A1):c.3169G>A (p.Val1057Ile) SNV Uncertain significance 324103 rs575285203 GRCh37: 17:48265929-48265929
GRCh38: 17:50188568-50188568
34 COL1A1 NM_000088.3(COL1A1):c.1002+10G>T SNV Uncertain significance 324114 rs368316440 GRCh37: 17:48273506-48273506
GRCh38: 17:50196145-50196145
35 COL1A1 NM_000088.3(COL1A1):c.334-5C>A SNV Uncertain significance 324119 rs115997082 GRCh37: 17:48276819-48276819
GRCh38: 17:50199458-50199458
36 COL1A1 NM_000088.3(COL1A1):c.2116G>A (p.Asp706Asn) SNV Uncertain significance 285239 rs372215246 GRCh37: 17:48269160-48269160
GRCh38: 17:50191799-50191799
37 COL1A1 NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) SNV Uncertain significance 853945 GRCh37: 17:48271957-48271957
GRCh38: 17:50194596-50194596
38 COL1A1 NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) SNV Uncertain significance 35918 rs193922153 GRCh37: 17:48266534-48266534
GRCh38: 17:50189173-50189173
39 COL1A1 NM_000088.3(COL1A1):c.3815-12G>T SNV Uncertain significance 324098 rs201066018 GRCh37: 17:48263880-48263880
GRCh38: 17:50186519-50186519
40 COL1A1 NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) SNV Uncertain significance 324113 rs776387246 GRCh37: 17:48272659-48272659
GRCh38: 17:50195298-50195298
41 COL1A1 NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) SNV Uncertain significance 324102 rs767525556 GRCh37: 17:48265485-48265485
GRCh38: 17:50188124-50188124
42 COL1A1 NM_000088.3(COL1A1):c.627C>T (p.Gly209=) SNV Uncertain significance 324117 rs201136122 GRCh37: 17:48275325-48275325
GRCh38: 17:50197964-50197964
43 COL1A1 NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) SNV Uncertain significance 35915 rs117672175 GRCh37: 17:48267238-48267238
GRCh38: 17:50189877-50189877
44 COL1A1 NM_000088.4(COL1A1):c.3207+3A>G SNV Uncertain significance 1029480 GRCh37: 17:48265888-48265888
GRCh38: 17:50188527-50188527
45 COL1A1 NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) SNV Uncertain significance 1029479 GRCh37: 17:48265976-48265976
GRCh38: 17:50188615-50188615
46 COL1A1 NM_000088.3(COL1A1):c.2743C>T (p.Pro915Ser) SNV Uncertain significance 324106 rs756337302 GRCh37: 17:48266824-48266824
GRCh38: 17:50189463-50189463
47 COL1A1 NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) SNV Uncertain significance 324095 rs138557594 GRCh37: 17:48262886-48262886
GRCh38: 17:50185525-50185525
48 COL1A1 NM_000088.3(COL1A1):c.1042G>A (p.Ala348Thr) SNV Uncertain significance 35897 rs139955975 GRCh37: 17:48273298-48273298
GRCh38: 17:50195937-50195937
49 COL1A1 NM_000088.3(COL1A1):c.3733A>T (p.Ile1245Phe) SNV Uncertain significance 287066 rs199514372 GRCh37: 17:48264082-48264082
GRCh38: 17:50186721-50186721
50 COL1A1 NM_000088.3(COL1A1):c.1269C>T (p.Pro423=) SNV Uncertain significance 456732 rs149301001 GRCh37: 17:48272623-48272623
GRCh38: 17:50195262-50195262

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 B3GALNT1 A4GALT
2 10.05 B3GALNT1 A4GALT

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 membrane GO:0000139 8.96 B3GALNT1 A4GALT
2 Golgi apparatus GO:0005794 8.8 COL1A1 B3GALNT1 A4GALT

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 8.62 B3GALNT1 A4GALT

Sources for Blood Group, P1pk System

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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