GenTIGSA Gene Database on Rare Genetic Disorders
Upshaw-Schulman Syndrome  
Disease Aliases (19)

Congenital adamts-13 deficiency

Congenital ttp

Congenital thrombotic thrombocytopenic purpura

Familial ttp

Microangiopathic hemolytic anemia

Microangiopathic hemolytic anemia, congenital

Schulman-upshaw syndrome

Thrombotic microangiopathy, familial

Thrombotic thrombocytopenic purpura, congenital

Thrombotic thrombocytopenic purpura, familial

Thrombotic thrombocytopenic purpura, hereditary, infantile- or adult-onset

Ttp

Ttp, congenital

Upshaw factor, deficiency of

Upshaw-schulman syndrome

Uss

Congenital adamts13 deficiency

Hereditary thrombotic thrombocytopenic purpura

Thrombotic thrombocytopenic purpura, congenital; ttp

Associated Genes (1)
 

NCBI-RefSeq:  ADAMTS13   (ADAM metallopeptidase with thrombospondin type 1 motif 13)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Upshaw-Schulman syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations