IEMbase 0130: ESR1-related Estrogen receptor deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 130 |
| Nosology | 24.2.17.01 |
| Gene | ESR1 |
| External IDs | OMIM:133430; ORPHA:785 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid standalone estrogen resistance/ESR1 target found; Aromatase_Deficiency.yaml is related context only |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as ESR1-related estrogen receptor deficiency, with alternate labels estrogen resistance and ESR1. Treatability is marked unknown.
The characteristic biochemical rows are increased FSH, increased LH, estradiol normal-to-high or high, and increased gonadotropins. No clinical or treatment rows are listed in the extract.
DisMech phenotype coverage
No local standalone estrogen resistance, estrogen receptor deficiency, or ESR1 disease target was found. ESR1 appears in other contexts in the repository, including cancer, osteoporosis risk, and reproductive/endocrine context, but those entries do not represent the IEMbase monogenic estrogen-resistance disease.
Aromatase_Deficiency.yaml mentions estrogen resistance as literature context,
but aromatase deficiency is a CYP19A1 estrogen-biosynthesis disorder with low
estrogen production. It should not be used as the disease target for ESR1
estrogen receptor deficiency.
Concordance and completeness
Judgement: true unmapped local disease gap.
The IEMbase biochemical signal is consistent with estrogen resistance: high gonadotropins despite normal-to-high or high estradiol. That mechanism is distinct from aromatase deficiency and from ESR1 alterations represented in cancer or risk-context entries. The generated unmapped result is appropriate.
Curation actions
- Keep this record unmapped until a standalone ESR1 estrogen resistance entry exists.
- Do not map to
Aromatase_Deficiency.yaml, ESR1 cancer entries, PMDD, or osteoporosis-risk content. - Future curation should add an ESR1/estrogen resistance target with gonadotropin elevation, normal-to-high/high estradiol, estrogen-receptor resistance mechanism, and any disease-specific reproductive/skeletal phenotype evidence found in primary sources.