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Article

Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature.

Endocrine journal - 3 Aug 2026

Yamada Yuki, Kondo Hidehito, Nishida Masashi, Kizaki Zenro, Tanase-Nakao Kanako, Narumi Satoshi, Mori Jun

Abstract excerpt

MIRAGE syndrome is a multisystemic disorder with a poor prognosis, caused by gain-of-function mutations in the SAMD9 gene. To date, no comprehensive reports on the systemic manifestations and management of MIRAGE syndrome in adult survivors. Here, we present the case of a 22-year-old man long-term survivor of MIRAGE syndrome with a wide range of clinical presentations and complications. From the neonatal period,...

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Identifiers

PMID: 42021048
DOI: 10.1507/endocrj.EJ25-0656
PMCID: PMC13478688

Genes

SAMD9

Variants

Provenance

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

Related research

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Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature.PMID 42021048Read ↗

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Discovery of MIRAGE syndromeSemantic proximity Read ↗

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A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.Semantic proximity Read ↗

Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo DisorderSemantic proximity Read ↗

Genetic and clinical spectrum of SAMD9 and SAMD9L syndromes: from variant interpretation to patient managementSemantic proximity Read ↗

A De Novo Mutation (c.2423A>G) in SAMD9 Causing MIRAGE Syndrome With Intrauterine Growth Retardation and Renal Hypoplasia in a Chinese Family.Semantic proximity Read ↗

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.Semantic proximity Read ↗

MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.Semantic proximity Read ↗

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