B3GALNT1 gene related symptoms and diseases

All the information presented here about the B3GALNT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to B3GALNT1 gene

Symptoms // Phenotype % Cases
Spontaneous abortion Very Common - Between 80% and 100% cases
Hemoglobinuria Very Common - Between 80% and 100% cases
Blood group antigen abnormality Uncommon - Between 30% and 50% cases

Rare diseases associated to B3GALNT1 gene

Here you will find a list of rare diseases related to the B3GALNT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BLOOD GROUP, P1PK SYSTEM


Most common symptoms of BLOOD GROUP, P1PK SYSTEM

  • Spontaneous abortion
  • Hemoglobinuria
  • Blood group antigen abnormality


More info about BLOOD GROUP, P1PK SYSTEM

SOURCES: OMIM

BLOOD GROUP, GLOBOSIDE SYSTEM; GLOB


Description

The P antigen, globoside-4 (Gb4), is a prominent glycosphingolipid on human erythrocytes (summary by Okajima et al., 2000).P-related IgG and IgM antibodies are implicated in hemolytic transfusion reactions, hemolytic disease of the newborn, and spontaneous abortion (see {614389}) (summary by Thuresson et al., 2011). Anti-P antibodies are also implicated in paroxysmal cold hemoglobinuria (PCH), a syndrome often seen in children after viral infection. In PCH, anti-P is also known as the Donath-Landsteiner antibody (Cantin and Lyonnais, 1983; Spitalnik and Spitalnik, 1995).

Most common symptoms of BLOOD GROUP, GLOBOSIDE SYSTEM; GLOB

  • Spontaneous abortion
  • Hemoglobinuria


More info about BLOOD GROUP, GLOBOSIDE SYSTEM; GLOB

SOURCES: OMIM


Potential gene panels for B3GALNT1 gene

B3GALNT1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the B3GALNT1 gene.

More info about this panel


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