Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report.

BMC nephrology - 12 Aug 2020

Ishiwa Sho, Kamei Koichi, Tanase-Nakao Kanako, Shibata Shinsuke, Matsunami Kunihiro, Takeuchi Ichiro, Sato Mai, Ishikura Kenji, Narumi Satoshi

Abstract excerpt

BACKGROUND: MIRAGE syndrome is a recently discovered rare genetic disease characterized by myelodysplasia (M), infection (I), growth restriction (R), adrenal hypoplasia (A), genital phenotypes (G), and enteropathy (E), caused by a gain-of-function mutation in the SAMD9 gene. We encountered a girl with molecularly-confirmed MIRAGE syndrome who developed steroid-resistant nephrotic syndrome. CASE PRESENTATION: She...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Angiotensin-Converting Enzyme Inhibitors
Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glucocorticoids

Share to Growth Disorders

Share to Infections

Share to Intestinal Diseases

Share to Nephrotic Syndrome

Share to Urogenital Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 32787808
DOI: 10.1186/s12882-020-02011-4
PMCID: PMC7424677

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report.PMID 32787808Read ↗

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

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

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

A novel SAMD9 variant identified in patient with MIRAGE syndrome: Further defining syndromic phenotype and review of previous casesSemantic proximity Read ↗

Discovery of MIRAGE syndromeSemantic proximity Read ↗

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.Semantic proximity Read ↗

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.Semantic proximity Read ↗

[Advance in research on MIRAGE syndrome].Semantic proximity Read ↗

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

A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects.Semantic proximity Read ↗

Steroid-resistant nephrotic syndrome: a persistent challenge for pediatric nephrology.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.