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Article

Natural history of the severe subtype of MYH9-related disease (Epstein syndrome).

European journal of internal medicine - 1 Aug 2025

Shinno Kazuma, Kunishima Shinji, Sakamoto Atsushi, Uchiyama Toru, Ishiguro Akira

Abstract excerpt

OBJECTIVES: This study aimed to describe the natural history and genotype-phenotype associations concerning nonhematological complications in Epstein syndrome, a high-risk subtype of MYH9-related disease (MYH9-RD). METHODS: We conducted a nationwide cross-sectional study using data from congenital thrombocytopenia registries in Japan. Immunofluorescence analysis and gene testing identified patients with Epstein...

Read the complete abstract on PubMed

Topics

Humans
Male
Thrombocytopenia
Female
Cross-Sectional Studies
Myosin Heavy Chains
Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Young Adult

Adolescent

Child

Japan

Child, Preschool

Hearing Loss, Sensorineural

Renal Insufficiency

Proteinuria

Molecular Motor Proteins

Deafness

Infant

Source

Identifiers

PMID: 40441958
DOI: 10.1016/j.ejim.2025.05.019

Genes

MYH9

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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