ADAMTS13 rs281875305: what the research says
This pathogenic variant is linked to Upshaw-Schulman syndrome, which can cause severe complications during pregnancy.
What each genotype means
Typical ADAMTS13 activity
This is the common, wild-type genotype for this position in the ADAMTS13 gene. Individuals with this genotype do not carry the specific pathogenic variant associated with Upshaw-Schulman syndrome at this location.
This is the most common genotype found in the general population.
Carrier of rare variant
You carry one copy of the pathogenic A allele and one copy of the common G allele. While this variant is linked to Upshaw-Schulman syndrome, this condition typically follows an autosomal recessive inheritance pattern, meaning carriers are generally asymptomatic; however, you should consult with a genetic counselor regarding family planning.
This genotype is very rare in the general population.
Potential Upshaw-Schulman syndrome risk
You carry two copies of the pathogenic A allele, which is associated with Upshaw-Schulman syndrome (congenital thrombotic thrombocytopenic purpura). This condition can lead to severe blood clotting complications, particularly during pregnancy, and requires clinical management by a hematologist.
This genotype is extremely rare and is primarily identified in clinical settings among individuals diagnosed with or suspected of having congenital thrombotic thrombocytopenic purpura.
Very rare
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This variant is associated with Upshaw-Schulman syndrome, a rare hereditary form of thrombotic thrombocytopenic purpura.
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A rare variant linked to specific phenotypic expressions in facial structure and connective tissue appearance.