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Article

[From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene].

Nederlands tijdschrift voor geneeskunde - 6 Dec 2003

Schiphorst R H, van de Kar N C, van den Heuvel L P

Abstract excerpt

Thrombotic thrombocytopenic purpura (TTP) is characterised by haemolytic anaemia with fragmented erythrocytes and thrombocytopenia, accompanied by other symptoms such as renal dysfunction, neurological signs and fever. Proteolysis of the Von Willebrand blood-clotting factor (VWF) by a VWF cleaving protease or ADAMTS13 is decreased in patients with TTP, leading to ultra-large Von Willebrand multimers in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14694551

Genes

ADAMTS13
VWF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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[From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene].PMID 14694551Read ↗

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Inherited thrombotic thrombocytopenic purpura in children.Semantic proximity Read ↗

Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in children.Semantic proximity Read ↗

Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).Semantic proximity Read ↗

A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.Semantic proximity Read ↗

Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.Semantic proximity Read ↗

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