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C1GALT1C1 gene related symptoms and diseases

All the information presented here about the C1GALT1C1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to C1GALT1C1 gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Thrombocytopenia Very Common - Between 80% and 100% cases
Autoimmunity Very Common - Between 80% and 100% cases
Leukemia Very Common - Between 80% and 100% cases
Hemolytic anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with C1GALT1C1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Leukopenia
  • Abnormal erythrocyte morphology

Rare diseases associated to C1GALT1C1 gene

Here you will find a list of rare diseases related to the C1GALT1C1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TN POLYAGGLUTINATION SYNDROME; TNPS

Alternate names

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as 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 ), 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).

Most common symptoms of TN POLYAGGLUTINATION SYNDROME; TNPS

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


More info about TN POLYAGGLUTINATION SYNDROME; TNPS

SOURCES: MESH OMIM


Potential gene panels for C1GALT1C1 gene

C1GALT1C1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C1GALT1C1 gene.

More info about this panel
United States.

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