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Article

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

International journal of molecular sciences - 21 May 2026

Poznyakova Julia, Pshenichnikova Olesya, Klebanova Elizaveta, Galstyan Gennadiy, Surin Vadim

Abstract excerpt

Upshaw-Schulman syndrome (USS) is a rare inherited autosomal recessive thrombotic microangiopathy affecting less than 1/1,000,000 individuals. It is a congenital form of thrombotic thrombocytopenic purpura (TTP) caused by ADAMTS13 protease deficiency because of mutations in the ADAMTS13 gene. USS is characterized by the formation of platelet thrombi in the microcirculation, accompanied by hemolytic anemia,...

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Identifiers

PMID: 42196618
DOI: 10.3390/ijms27104643
PMCID: PMC13208002

Genes

ADAMTS13

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Mutation Spectrum of ADAMTS13 Gene in Patients with Upshaw-Schulman Syndrome (USS) in Russia.PMID 42196618Read ↗

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An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.Semantic proximity Read ↗

The global carrier frequency and genetic prevalence of Upshaw-Schulman syndromeSemantic proximity Read ↗

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

Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.Semantic proximity Read ↗

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