Tn polyagglutination syndrome

Summary
Synonym
  • galactosyltransferase deficiency
Definition
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.
Super Class
hematopoietic system disease
Disease Ontology
DOID:0080520
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29071 C1GALT1C1 C1GALT1 specific chaperone 1
The Human Phenotype Ontology
Displaying all 3 entries
HPO ID HPO Term
HP:0001442 Typified by somatic mosaicism
HP:0001877 Abnormal erythrocyte morphology
HP:0002960 Autoimmunity
Displaying 1 entry
Gene ID Gene Symbol Description
29071 C1GALT1C1 C1GALT1 specific chaperone 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 4, 2025