ADAMTS13

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

• Thrombophilia with a likely monogenic cause

  BIALLELIC, autosomal or pseudoautosomal

• Vascular skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Atypical haemolytic uraemic syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• congenital thrombotic thrombocytopenic purpura

  0.86

• thrombotic thrombocytopenic purpura

  0.69

• Thrombocytopenia

  0.38

• Abnormal bleeding

  0.36

• atypical hemolytic-uremic syndrome

  0.31

• hereditary disease

  0.20

• thrombotic disease

  0.16

• COVID-19

  0.12

• hepatocellular carcinoma

  0.11

• stroke disorder

  0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with ADAMTS13

Curated MONDO disease pages that list ADAMTS13 among their top associated genes.

• hyperinsulinemic hypoglycemia, familial, 4Rare