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Article

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

Human genetics - 1 Feb 2002

Seri Marco, Savino Maria, Bordo Domenico, Cusano Roberto, Rocca Bianca, Meloni Ilaria, Di Bari Filomena, Koivisto Pasi A, Bolognesi Martino, Ghiggeri Gian Marco, Landolfi Raffaele, Balduini Carlo L, Zelante Leopoldo, Ravazzolo Roberto, Renieri Alessandra, Savoia Anna

Abstract excerpt

Epstein syndrome (EPTS) is an autosomal dominant disease characterized by nephritis, mild hearing loss, and thrombocytopenia with giant platelets. Renal and hearing abnormalities are indistinguishable from those observed in Fechtner syndrome (FTNS), an Alport-like variant. EPTS macrothrombocytopenia is similar to that described in FTNS, May-Hegglin anomaly (MHA), and Sebastian syndrome (SBS), three disorders...

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Source

Identifiers

PMID: 11935325
DOI: 10.1007/s00439-001-0659-1

Genes

MYH9

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.PMID 11935325Read ↗

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.Semantic proximity Read ↗

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.Semantic proximity Read ↗

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.Semantic proximity Read ↗

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.Semantic proximity Read ↗

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