TNPS
MCID: TNP004
MIFTS: 38

Tn Polyagglutination Syndrome (TNPS)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune 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. Affiliated tissues include skin, pancreas and small intestine, and related phenotypes are autoimmunity and abnormal erythrocyte morphology

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 81)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, spondylodysplastic type, 1 11.3
2 spondylodysplastic ehlers-danlos syndrome 11.3
3 congenital disorder of glycosylation, type iid 11.1
4 ehlers-danlos syndrome progeroid type 11.1
5 adenofibroma 10.2 MUC1 MUC16
6 microcystic adenoma 10.2 MUC1 MUC6
7 tubular adenocarcinoma 10.2 MUC1 MUC2
8 small intestine adenocarcinoma 10.2 MUC2 MUC6
9 duodenum adenocarcinoma 10.2 MUC2 MUC6
10 neutropenia 10.2
11 appendix disease 10.2 MUC2 MUC6
12 cryptogenic organizing pneumonia 10.2 MUC1 MUC5B
13 lipid pneumonia 10.2 MUC1 MUC5B
14 cystic teratoma 10.2 MUC2 MUC6
15 adenomyoma 10.2 MUC1 MUC4 MUC6
16 ampulla of vater adenocarcinoma 10.2 MUC1 MUC2
17 mixed ductal-endocrine carcinoma 10.2 MUC1 MUC6
18 cystadenocarcinoma 10.2 MUC1 MUC16 MUC2
19 pulmonary hemosiderosis 10.1 MUC1 MUC5B
20 bronchiolo-alveolar adenocarcinoma 10.1 MUC2 MUC4 MUC6
21 mucinous cystadenocarcinoma 10.1 MUC1 MUC16 MUC2
22 tumor of exocrine pancreas 10.1 MUC1 MUC2 MUC6
23 pancreatic intraductal papillary-mucinous neoplasm 10.1 MUC1 MUC2 MUC6
24 duodenal disease 10.1 MUC1 MUC2 MUC6
25 appendix cancer 10.1 MUC1 MUC2 MUC6
26 papillary adenocarcinoma 10.1 MUC1 MUC16 MUC2
27 duodenum cancer 10.1 MUC1 MUC2 MUC6
28 signet ring cell adenocarcinoma 10.1 MUC1 MUC2 MUC6
29 ampulla of vater cancer 10.1 MUC1 MUC2 MUC6
30 biliary tract neoplasm 10.1 MUC1 MUC2 MUC4
31 pancreatic ductal carcinoma 10.1 MUC1 MUC2 MUC6
32 cholecystitis 10.1 MUC1 MUC2 MUC6
33 adamantinoma of long bones 10.1
34 allergic hypersensitivity disease 10.1
35 pericardial mesothelioma 10.1 MUC1 MUC16
36 mucinous tubular and spindle renal cell carcinoma 10.1 MUC1 MUC2 MUC4 MUC6
37 cystadenoma 10.1 MUC1 MUC2 MUC4 MUC6
38 mucinous adenocarcinoma 10.1 MUC1 MUC2
39 atopic keratoconjunctivitis 10.0 MUC16 MUC5AC
40 breast mucoepidermoid carcinoma 10.0 MUC1 MUC5AC
41 clear cell adenoma 10.0 MUC2 MUC5AC
42 mucinous ovarian cystadenoma 10.0 MUC1 MUC5AC
43 chronic maxillary sinusitis 10.0 MUC5AC MUC5B
44 polyposis, skin pigmentation, alopecia, and fingernail changes 10.0 MUC2 MUC5AC
45 complete androgen insensitivity syndrome 10.0 MUC1 MUC5AC
46 gastric cardia carcinoma 10.0 MUC1 MUC5AC
47 solid adenocarcinoma with mucin production 10.0 MUC1 MUC5AC MUC6
48 mucinous intrahepatic cholangiocarcinoma 10.0 MUC2 MUC5AC MUC6
49 superior mesenteric artery syndrome 9.9 MUC2 MUC5AC MUC6
50 limbal stem cell deficiency 9.9 MUC1 MUC4 MUC5AC

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 autoimmunity 32 HP:0002960
2 abnormal erythrocyte morphology 32 HP:0001877

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

MalaCards organs/tissues related to Tn Polyagglutination Syndrome:

41
Skin, Pancreas, Small Intestine, Appendix, T Cells

Publications for Tn Polyagglutination Syndrome

Articles related to Tn Polyagglutination Syndrome:

(show all 12)
# Title Authors Year
1
Persistent Tn polyagglutination syndrome during febrile neutropenia: a case report and review of the literature. ( 21235740 )
2011
2
Repressed beta-1,3-galactosyltransferase in the Tn syndrome. ( 9545556 )
1998
3
Differences in the regulation of specific glycosylation in the pathogenesis of paroxysmal nocturnal hemoglobinuria and the Tn-syndrome. ( 7509289 )
1994
4
The cell-specific expression of glycan antigens exemplified by the deficiency of beta 1,3 galactosyltransferase in the Tn-syndrome. ( 8019643 )
1994
5
Persistent repression of a functional allele can be responsible for galactosyltransferase deficiency in Tn syndrome. ( 7683697 )
1993
6
Expression of the Tn antigen on erythroid cells from a patient with Tn syndrome. ( 1297447 )
1992
7
Structural modifications of platelet membrane glycoprotein GPIb in the Tn syndrome. ( 3366004 )
1988
8
Presence of the Tn antigen on hematopoietic progenitors from patients with the Tn syndrome. ( 3973016 )
1985
9
The origin of human B and T cells from multipotent stem cells: a study of the Tn syndrome. ( 6602054 )
1983
10
Evidence for carbohydrate-deficient forms of the major sialoglycoproteins of human platelets, granulocytes and T lymphocytes in individuals with Tn syndrome. ( 6605304 )
1983
11
Surface modifications in the platelets of a patient with alpha-N-acetyl-D-galactosamine residues, the Tn-syndrome. ( 7174794 )
1982
12
Galactosyltransferase and membrane glycoprotein abnormality in human platelets from Tn-syndrome donors. ( 121764 )
1979

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 GRCh38 Chromosome X, 120626739: 120626739
12 C1GALT1C1 NM_001011551.2(C1GALT1C1): c.428C> T (p.Ala143Val) single nucleotide variant Benign rs45557031 GRCh37 Chromosome X, 119760594: 119760594

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
13.95 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
2
Show member pathways
13.77 C1GALT1C1 MUC1 MUC12 MUC13 MUC15 MUC16
3
Show member pathways
12.95 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
4
Show member pathways
12.62 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
5
Show member pathways
12.56 C1GALT1C1 MUC1 MUC12 MUC13 MUC15 MUC16
6
Show member pathways
12.15 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
7
Show member pathways
12.07 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
8
Show member pathways
11.85 MUC2 MUC5AC 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 9.91 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
2 Golgi lumen GO:0005796 9.58 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
3 apical plasma membrane GO:0016324 9.56 MUC1 MUC13 MUC17 MUC20
4 vesicle GO:0031982 9.5 MUC1 MUC16 MUC4
5 extracellular region GO:0005576 10 MUC1 MUC13 MUC15 MUC16 MUC17 MUC19

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

# Name GO ID Score Top Affiliating Genes
1 O-glycan processing GO:0016266 9.91 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.58 MUC1 MUC12 MUC13 MUC15 MUC16 MUC17
3 maintenance of gastrointestinal epithelium GO:0030277 9.46 MUC13 MUC2 MUC4 MUC6

Molecular functions related to Tn Polyagglutination Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.13 MUC3A MUC5AC MUC6
2 extracellular matrix constituent, lubricant activity GO:0030197 8.8 MUC17 MUC3A MUC4

Sources for Tn Polyagglutination Syndrome

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74 UMLS via Orphanet
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