MCID: TNP004
MIFTS: 29

Tn Polyagglutination Syndrome

Categories: Genetic diseases

Aliases & Classifications for Tn Polyagglutination Syndrome

MalaCards integrated aliases for Tn Polyagglutination Syndrome:

Name: Tn Polyagglutination Syndrome 57 75 40
Tn Syndrome 75 37 73
Tn Polyagglutination Syndrome, Somatic 57 13
Galactosyltransferase Deficiency 57 75
Tnps 57 75

Classifications:



External Ids:

OMIM 57 300622
MedGen 42 C0272137
MeSH 44 D006402
KEGG 37 H01188
SNOMED-CT via HPO 69 12222001 85828009
UMLS 73 C0272137

Summaries for Tn Polyagglutination Syndrome

OMIM : 57 Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000). Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1; 610555), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008). (300622)

MalaCards based summary : Tn Polyagglutination Syndrome, also known as tn syndrome, is related to ehlers-danlos syndrome, spondylodysplastic type, 1 and spondylodysplastic ehlers-danlos syndrome. An important gene associated with Tn Polyagglutination Syndrome is C1GALT1C1 (C1GALT1 Specific Chaperone 1), and among its related pathways/superpathways are Mucin type O-glycan biosynthesis and Innate Immune System. Related phenotypes are abnormal erythrocyte morphology and autoimmunity

UniProtKB/Swiss-Prot : 75 Tn polyagglutination syndrome: A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders.

Related Diseases for Tn Polyagglutination Syndrome

Diseases related to Tn Polyagglutination Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, spondylodysplastic type, 1 11.1
2 spondylodysplastic ehlers-danlos syndrome 11.1
3 congenital disorder of glycosylation, type iid 11.0
4 ehlers-danlos syndrome progeroid type 11.0
5 microcystic adenoma 10.4 MUC1 MUC6
6 adenomyoma 10.4 MUC1 MUC6
7 mixed ductal-endocrine carcinoma 10.3 MUC1 MUC6
8 appendix cancer 10.3 MUC1 MUC2
9 ampulla of vater adenocarcinoma 10.3 MUC1 MUC2
10 mucinous cystadenocarcinoma 10.3 MUC1 MUC2
11 mucinous intrahepatic cholangiocarcinoma 10.3 MUC2 MUC6
12 meconium ileus 10.2 MUC1 MUC2
13 biliary tract neoplasm 10.2 MUC1 MUC2
14 superior mesenteric artery syndrome 10.2 MUC2 MUC6
15 gastrointestinal carcinoma 10.2 MUC1 MUC2
16 ovarian mucinous neoplasm 10.2 MUC2 MUC6
17 tubular adenocarcinoma 10.2 MUC1 MUC2
18 cystic teratoma 10.2 MUC2 MUC6
19 mucinous adenocarcinoma 10.2 MUC1 MUC2
20 papillary adenocarcinoma 10.2 MUC1 MUC2
21 cryptogenic organizing pneumonia 10.2 MUC1 MUC5B
22 secretory meningioma 10.2 MUC1 MUC2
23 bile duct adenocarcinoma 10.2 MUC1 MUC2
24 lipid pneumonia 10.2 MUC1 MUC5B
25 pulmonary hemosiderosis 10.1 MUC1 MUC5B
26 neutropenia 10.1
27 epstein-barr virus-associated gastric carcinoma 10.1 MUC2 MUC6
28 cystadenocarcinoma 10.1 MUC1 MUC2
29 small intestine cancer 10.1 MUC2 MUC6
30 bile duct carcinoma 10.0 MUC1 MUC2
31 mucoepidermoid carcinoma 10.0 MUC1 MUC2
32 intrahepatic cholangiocarcinoma 9.9 MUC1 MUC2
33 cell type cancer 9.8 MUC1 MUC2
34 pancreatic intraductal papillary-mucinous neoplasm 9.8 MUC1 MUC2 MUC6
35 tumor of exocrine pancreas 9.8 MUC1 MUC2 MUC6
36 bile duct cystadenocarcinoma 9.8 MUC1 MUC2 MUC6
37 ampulla of vater neoplasm 9.8 MUC1 MUC2 MUC6
38 mucinous tubular and spindle renal cell carcinoma 9.8 MUC1 MUC2 MUC6
39 biliary papillomatosis 9.8 MUC1 MUC2 MUC6
40 duodenum cancer 9.8 MUC1 MUC2 MUC6
41 pseudomyxoma peritonei 9.8 MUC1 MUC2 MUC6
42 gastric tubular adenocarcinoma 9.8 MUC1 MUC2 MUC6
43 signet ring cell adenocarcinoma 9.8 MUC1 MUC2 MUC6
44 iga glomerulonephritis 9.8
45 small intestinal adenocarcinoma 9.8 MUC1 MUC2 MUC6
46 cystadenoma 9.8 MUC1 MUC2 MUC6
47 pancreatic ductal carcinoma 9.8 MUC1 MUC2 MUC6
48 cholecystitis 9.8 MUC1 MUC2 MUC6
49 pancreas adenocarcinoma 9.8 MUC1 MUC2 MUC6
50 otitis media 9.8 MUC2 MUC5B

Graphical network of the top 20 diseases related to Tn Polyagglutination Syndrome:



Diseases related to Tn Polyagglutination Syndrome

Symptoms & Phenotypes for Tn Polyagglutination Syndrome

Clinical features from OMIM:

300622

Human phenotypes related to Tn Polyagglutination Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 abnormal erythrocyte morphology 32 HP:0001877
2 autoimmunity 32 HP:0002960

Drugs & Therapeutics for Tn Polyagglutination Syndrome

Search Clinical Trials , NIH Clinical Center for Tn Polyagglutination Syndrome

Genetic Tests for Tn Polyagglutination Syndrome

Anatomical Context for Tn Polyagglutination Syndrome

Publications for Tn Polyagglutination Syndrome

Articles related to Tn Polyagglutination Syndrome:

# Title Authors Year
1
Persistent Tn polyagglutination syndrome during febrile neutropenia: a case report and review of the literature. ( 21235740 )
2011
2
O-linked oligosaccharides of glycophorins A and B in erythrocytes of two individuals with the Tn polyagglutinability syndrome. ( 1421410 )
1992

Variations for Tn Polyagglutination Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Tn Polyagglutination Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 C1GALT1C1 p.Glu152Lys VAR_031911 rs137853599
2 C1GALT1C1 p.Ser193Pro VAR_069275 rs397514537

ClinVar genetic disease variations for Tn Polyagglutination Syndrome:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1GALT1C1 NM_152692.4(C1GALT1C1): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs137853598 GRCh37 Chromosome X, 119760820: 119760820
2 C1GALT1C1 NM_152692.4(C1GALT1C1): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs137853598 GRCh38 Chromosome X, 120626965: 120626965
3 C1GALT1C1 NM_152692.4(C1GALT1C1): c.393T> A (p.Asp131Glu) single nucleotide variant Pathogenic rs17261572 GRCh37 Chromosome X, 119760629: 119760629
4 C1GALT1C1 NM_152692.4(C1GALT1C1): c.393T> A (p.Asp131Glu) single nucleotide variant Pathogenic rs17261572 GRCh38 Chromosome X, 120626774: 120626774
5 C1GALT1C1 NM_152692.4(C1GALT1C1): c.454G> A (p.Glu152Lys) single nucleotide variant Pathogenic rs137853599 GRCh37 Chromosome X, 119760568: 119760568
6 C1GALT1C1 NM_152692.4(C1GALT1C1): c.454G> A (p.Glu152Lys) single nucleotide variant Pathogenic rs137853599 GRCh38 Chromosome X, 120626713: 120626713
7 C1GALT1C1 NM_152692.4(C1GALT1C1): c.577T> C (p.Ser193Pro) single nucleotide variant Pathogenic rs397514537 GRCh37 Chromosome X, 119760445: 119760445
8 C1GALT1C1 NM_152692.4(C1GALT1C1): c.577T> C (p.Ser193Pro) single nucleotide variant Pathogenic rs397514537 GRCh38 Chromosome X, 120626590: 120626590
9 C1GALT1C1 NM_152692.4(C1GALT1C1): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs587776928 GRCh37 Chromosome X, 119761019: 119761019
10 C1GALT1C1 NM_152692.4(C1GALT1C1): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs587776928 GRCh38 Chromosome X, 120627164: 120627164
11 C1GALT1C1 NM_001011551.2(C1GALT1C1): c.428C> T (p.Ala143Val) single nucleotide variant Benign rs45557031 GRCh37 Chromosome X, 119760594: 119760594
12 C1GALT1C1 NM_001011551.2(C1GALT1C1): c.428C> T (p.Ala143Val) single nucleotide variant Benign rs45557031 GRCh38 Chromosome X, 120626739: 120626739

Expression for Tn Polyagglutination Syndrome

Search GEO for disease gene expression data for Tn Polyagglutination Syndrome.

Pathways for Tn Polyagglutination Syndrome

Pathways related to Tn Polyagglutination Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Mucin type O-glycan biosynthesis hsa00512

Pathways related to Tn Polyagglutination Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 MUC1 MUC13 MUC2 MUC21 MUC5B MUC6
2
Show member pathways
13.29 C1GALT1C1 MUC1 MUC13 MUC2 MUC21 MUC5B
3
Show member pathways
13.21 MUC1 MUC13 MUC2 MUC21 MUC5B MUC6
4
Show member pathways
12.15 MUC1 MUC13 MUC2 MUC21 MUC5B MUC6
5
Show member pathways
11.8 MUC1 MUC13 MUC2 MUC21 MUC5B MUC6
6
Show member pathways
11.47 MUC1 MUC13 MUC2 MUC21 MUC5B MUC6
7
Show member pathways
11.43 C1GALT1C1 MUC1 MUC13 MUC2 MUC21 MUC5B

GO Terms for Tn Polyagglutination Syndrome

Cellular components related to Tn Polyagglutination Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.63 MUC1 MUC13 MUC2 MUC21 MUC5B MUC6
2 extracellular exosome GO:0070062 9.35 C1GALT1C1 MUC1 MUC13 MUC21 MUC5B
3 Golgi lumen GO:0005796 9.1 MUC1 MUC13 MUC2 MUC21 MUC5B MUC6

Biological processes related to Tn Polyagglutination Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.43 MUC1 MUC13 MUC2 MUC21 MUC5B MUC6
2 maintenance of gastrointestinal epithelium GO:0030277 9.33 MUC13 MUC2 MUC6
3 O-glycan processing GO:0016266 9.17 C1GALT1C1 MUC1 MUC13 MUC2 MUC21 MUC5B

Sources for Tn Polyagglutination Syndrome

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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