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
Search interest in B3GALNT1
Potential gene panels for B3GALNT1 gene
B3GALNT1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the B3GALNT1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NSMF ESPN ADCY5 TGIF1 HNRNPH2 HLA-B NFIX