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
External Links
Disease Ontology
DOID:0080520
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29071 C1GALT1C1 C1GALT1 specific chaperone 1
56913 C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1
145173 B3GLCT beta 3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
59048 C1galt1c1 C1GALT1-specific chaperone 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
302499 C1galt1c1 C1GALT1-specific chaperone 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
3885645 CG34057 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
324052 c1galt1c1 C1GALT1-specific chaperone 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
448225 c1galt1c1 C1GALT1 specific chaperone 1 Xenopus tropicalis (tropical clawed frog)
495031 c1galt1c1.L C1GALT1 specific chaperone 1 L homeolog Xenopus laevis (African clawed frog)
108700090 c1galt1c1.S C1GALT1 specific chaperone 1 S homeolog Xenopus laevis (African clawed frog)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6Y288 Beta-1,3-glucosyltransferase
The Human Phenotype Ontology
Displaying all 3 entries
HPO ID HPO Term
HP:0001877 Abnormal erythrocyte morphology
HP:0001442 Typified by somatic mosaicism
HP:0002960 Autoimmunity
Displaying 1 entry
Gene ID Gene Symbol Description
29071 C1GALT1C1 C1GALT1 specific chaperone 1

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Acknowledgements

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


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Last updated: August 19, 2024