Upshaw–Schulman syndrome

Also known as: Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS13 deficiency causing recurrent TTP.

Medical specialty: Nephrology
Subspecialty: Nephrology / Thrombotic microangiopathies
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved: ADAMTS13

Etiology & mechanism

Biallelic ADAMTS13 variants.

Gene(s) involved (1)

ADAMTS13

Symptoms & signs (6)

hemolytic anemianeonatal jaundicerecurrent ttp episodesrenal impairmentstrokethrombocytopenia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.