TNPS
MCID: TNP004
MIFTS: 36

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 58 12 76 41
Galactosyltransferase Deficiency 58 12 76
Tn Syndrome 76 38 74
Tn Polyagglutination Syndrome, Somatic 58 13
Tnps 58 76

Characteristics:

HPO:

33
tn polyagglutination syndrome:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:0080520
OMIM 58 300622
KEGG 38 H01188
MeSH 45 D006402
MedGen 43 C0272137
SNOMED-CT via HPO 70 12222001 124975008 85828009
UMLS 74 C0272137

Summaries for Tn Polyagglutination Syndrome

OMIM : 58 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 galactosyltransferase deficiency, is related to ehlers-danlos syndrome, spondylodysplastic type, 1 and congenital disorder of glycosylation, type iid. 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 pancreas, appendix and skin, and related phenotypes are autoimmunity and abnormal erythrocyte morphology

Disease Ontology : 12 A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has material basis in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.

UniProtKB/Swiss-Prot : 76 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 87)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, spondylodysplastic type, 1 11.3
2 congenital disorder of glycosylation, type iid 11.2
3 ehlers-danlos syndrome progeroid type 11.2
4 spondylodysplastic ehlers-danlos syndrome 11.2
5 tubular adenocarcinoma 10.5 MUC1 MUC2
6 small intestine adenocarcinoma 10.4 MUC2 MUC6
7 duodenum adenocarcinoma 10.4 MUC2 MUC6
8 adenofibroma 10.4 MUC1 MUC16
9 microcystic adenoma 10.4 MUC1 MUC6
10 appendix disease 10.4 MUC2 MUC6
11 ampulla of vater adenocarcinoma 10.4 MUC1 MUC2
12 cystadenocarcinoma 10.3 MUC1 MUC16 MUC2
13 sarcomatoid mesothelioma 10.3 MUC1 MUC4
14 cystic teratoma 10.3 MUC2 MUC6
15 tumor of exocrine pancreas 10.3 MUC1 MUC2 MUC6
16 pancreatic intraductal papillary-mucinous neoplasm 10.3 MUC1 MUC2 MUC6
17 mucinous cystadenocarcinoma 10.3 MUC1 MUC16 MUC2
18 cryptogenic organizing pneumonia 10.3 MUC1 MUC5B
19 appendix cancer 10.3 MUC1 MUC2 MUC6
20 duodenum cancer 10.3 MUC1 MUC2 MUC6
21 papillary adenocarcinoma 10.3 MUC1 MUC16 MUC2
22 signet ring cell adenocarcinoma 10.3 MUC1 MUC2 MUC6
23 ampulla of vater cancer 10.3 MUC1 MUC2 MUC6
24 pancreatic ductal carcinoma 10.3 MUC1 MUC2 MUC6
25 lipid pneumonia 10.3 MUC1 MUC5B
26 cholecystitis 10.3 MUC1 MUC2 MUC6
27 mixed ductal-endocrine carcinoma 10.3 MUC1 MUC6
28 adenomyoma 10.2 MUC1 MUC4 MUC6
29 breast mucoepidermoid carcinoma 10.2 MUC1 MUC5AC
30 clear cell adenoma 10.2 MUC2 MUC5AC
31 bronchiolo-alveolar adenocarcinoma 10.2 MUC2 MUC4 MUC6
32 pulmonary hemosiderosis 10.2 MUC1 MUC5B
33 neutropenia 10.2
34 mucinous adenocarcinoma 10.2 MUC1 MUC2
35 atopic keratoconjunctivitis 10.2 MUC16 MUC5AC
36 mucinous ovarian cystadenoma 10.2 MUC1 MUC5AC
37 polyposis, skin pigmentation, alopecia, and fingernail changes 10.2 MUC2 MUC5AC
38 lymphoma 10.2
39 allergic hypersensitivity disease 10.2
40 plasmacytoma 10.2
41 complete androgen insensitivity syndrome 10.2 MUC1 MUC5AC
42 gastric cardia carcinoma 10.2 MUC1 MUC5AC
43 meconium ileus 10.2 MUC1 MUC2 MUC5AC
44 mucinous intrahepatic cholangiocarcinoma 10.2 MUC2 MUC5AC MUC6
45 hidradenocarcinoma 10.1 MUC2 MUC5AC
46 mucinous tubular and spindle renal cell carcinoma 10.1 MUC1 MUC2 MUC4 MUC6
47 cystadenoma 10.1 MUC1 MUC2 MUC4 MUC6
48 bile duct adenocarcinoma 10.1 MUC1 MUC2 MUC5AC
49 superior mesenteric artery syndrome 10.1 MUC2 MUC5AC MUC6
50 ovarian mucinous neoplasm 10.1 MUC2 MUC5AC MUC6

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



Diseases related to Tn Polyagglutination Syndrome

Symptoms & Phenotypes for Tn Polyagglutination Syndrome

Human phenotypes related to Tn Polyagglutination Syndrome:

33
# Description HPO Frequency HPO Source Accession
1 autoimmunity 33 HP:0002960
2 abnormal erythrocyte morphology 33 HP:0001877

Clinical features from OMIM:

300622

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:

42
Pancreas, Appendix, Skin, Small Intestine

Publications for Tn Polyagglutination Syndrome

Articles related to Tn Polyagglutination Syndrome:

# Title Authors Year
1
α1,3-galactosyltransferase deficiency in germ-free miniature pigs increases N-glycolylneuraminic acids as the xenoantigenic determinant in pig-human xenotransplantation. ( 22775484 )
2012
2
Persistent Tn polyagglutination syndrome during febrile neutropenia: a case report and review of the literature. ( 21235740 )
2011
3
Alpha 1,3-galactosyltransferase deficiency in pigs increases sialyltransferase activities that potentially raise non-gal xenoantigenicity. ( 22131812 )
2011
4
New mutations in C1GALT1C1 in individuals with Tn positive phenotype. ( 18537974 )
2008
5
Protein glycosylation: chaperone mutation in Tn syndrome. ( 16251947 )
2005
6
Persistent repression of a functional allele can be responsible for galactosyltransferase deficiency in Tn syndrome. ( 7683697 )
1993

Variations for Tn Polyagglutination Syndrome

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

76
# 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:

38
# Name Kegg Source Accession
1 Mucin type O-glycan biosynthesis hsa00512

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

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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