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IEMbase 0591: SAMD9-related MIRAGE syndrome

Scope

Field Value
IEMbase ID 591
Nosology 25.1.3.01
Gene SAMD9
External IDs OMIM:617053; ORPHA:494433
Generated mapping UNMAPPED; best candidate CHARGE_Syndrome.yaml
Candidate DisMech targets None exact
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents SAMD9-related MIRAGE syndrome, expanded as myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy syndrome. The record is autosomal dominant, classified as unclassified, has unknown treatability, and has no treatment rows.

Biochemical rows include increased renin activity, very increased plasma corticotropin, normal aldosterone, and decreased plasma cortisol. Clinical rows include chronic diarrhea, external genital abnormality, myelodysplasia, recurrent bacterial infections, adrenal insufficiency, developmental delay, and thrombocytopenia.

DisMech phenotype coverage

CHARGE_Syndrome.yaml is a false-positive generated candidate. CHARGE models CHD7 haploinsufficiency with neural-crest and placode developmental mechanisms, coloboma, heart defects, choanal atresia, growth/developmental delay, genital anomalies, and ear anomalies. It does not represent SAMD9, MIRAGE syndrome, adrenal hypoplasia/insufficiency, myelodysplasia, thrombocytopenia, or the enteropathy-infection phenotype bundle.

The local knowledge base mentions SAMD9/SAMD9L only as broad marrow-failure context elsewhere; no exact MIRAGE syndrome target was identified.

Concordance and completeness

Judgement: true local gap; reject CHARGE syndrome as an exact target.

The generated candidate is explainable by overlapping growth, developmental, and genital-anomaly language, but the disease identity is different. IEMbase centers a SAMD9 adrenal-marrow-immune-enteropathy syndrome, not a CHD7 developmental-malformation syndrome.

Curation actions

  • Create or identify an exact SAMD9 / MIRAGE syndrome target before import.
  • Reject CHARGE_Syndrome.yaml as an exact mapping.
  • Preserve adrenal-axis biomarkers, myelodysplasia, thrombocytopenia, recurrent infection, chronic diarrhea, genital anomaly, and developmental delay as source-review prompts.