Preferred Label : Tn polyagglutination syndrome;
Symbol : TNPS;
CISMeF acronym : TNPS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Galactosyltransferase deficiency;
Description : 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).;
Prefixed ID : #300622;
Origin ID : 300622;
UMLS CUI : C0272137;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
