Nephrology · Nephrology / Thrombotic microangiopathies
Upshaw–Schulman syndrome
also: Congenital thrombotic thrombocytopenic purpura
Congenital ADAMTS13 deficiency causing recurrent TTP.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Thrombotic microangiopathies
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, neonatal
- Gene(s) involved
- ADAMTS13
- Alternative names & eponyms
- Congenital thrombotic thrombocytopenic purpura
Etiology & mechanism
Biallelic ADAMTS13 variants.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Upshaw–Schulman syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Antiphospholipid syndrome
stroke, thrombocytopenia
2 shared
Hemolytic uremic syndrome
hemolytic anemia, thrombocytopenia
1 shared
Atypical hemolytic uremic syndrome
thrombocytopenia
1 shared
Bernard–Soulier syndrome
thrombocytopenia
1 shared
Cold agglutinin syndrome
hemolytic anemia
1 shared
Crigler–Najjar syndrome
neonatal jaundice
1 shared
Deficiency of adenosine deaminase 2 syndrome
stroke
1 shared
Dengue shock syndrome
thrombocytopenia
1 shared
Eisenmenger syndrome
stroke
1 shared
HELLP syndrome
thrombocytopenia
Shares genes with
None.
Loading…
Loading…