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Article

Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene.

European journal of haematology - 1 Feb 2014

Rank Cecilie Utke, Kremer Hovinga Johanna, Taleghani Magnus Mansouri, Lämmle Bernhard, Gøtze Jens Peter, Nielsen Ove Juul

Abstract excerpt

Upshaw-Schulman syndrome (USS) is due to severe congenital deficiency of von Willebrand factor (VWF)-cleaving protease ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 domains, nr 13) activity resulting in the presence of unusually large forms of VWF in the circulation, causing intravascular platelet clumping and thrombotic microangiopathy. Our patient, a 26-year-old man, had attacks of...

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Source

Identifiers

PMID: 24033710
DOI: 10.1111/ejh.12197

Genes

ADAMTS13
VWF

Variants

Provenance

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Related research

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Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene.PMID 24033710Read ↗

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

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Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.Semantic proximity Read ↗

Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children.Semantic proximity Read ↗

Hereditary Thrombotic Thrombocytopenic Purpura.Semantic proximity Read ↗

Mutation Spectrum of ADAMTS13 Gene in Patients with Upshaw-Schulman Syndrome (USS) in Russia.Semantic proximity Read ↗

Inherited thrombotic thrombocytopenic purpura in children.Semantic proximity Read ↗

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