MIRAGE syndrome
Findings
No curated finding names MIRAGE syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.
Definition from the Mondo Disease Ontology (MONDO:0014888), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adrenal hypoplasiaHPOHP:0000835
- 7 of 7 reported patients
- Adrenal insufficiencyHPOHP:0000846
- 11 of 11 reported patients
- Chronic diarrheaHPOHP:0002028
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- HypospadiasHPOHP:0000047
- 6 of 6 reported patients
- MicrophallusHPOHP:0030260
- 6 of 6 reported patients
- ThrombocytopeniaHPOHP:0001873
Show the remaining 29
- CryptorchidismHPOHP:0000028
- 2 of 6 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 3 of 11 reported patients
- AchalasiaHPOHP:0002571
- 2 of 11 reported patients
- Hypergonadotropic hypogonadismHPOHP:0000815
- 2 of 11 reported patients
- MyelodysplasiaHPOHP:0002863
- 2 of 11 reported patients
- ParaplegiaHPOHP:0010550
- 2 of 11 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SAMD9HGNC:1348
- Definitive · Ambry Genetics · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: MIRAGE syndrome
- Also called
- MIRAGEmyelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndromemyelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndromemyelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy