IEMbase 0131: PGR-related Progesterone receptor deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 131 |
| Nosology | 24.2.29.01 |
| Gene | PGR |
| External IDs | OMIM:264080 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid PGR/progesterone resistance target found |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as PGR-related progesterone receptor deficiency, with alternate labels progesterone resistance, pseudocorpus luteum deficiency, and PGR. Treatability is marked unknown.
The extracted biochemical signal is decreased plasma progesterone in adolescence and adulthood. Clinical-characteristic rows include immature endometrium and female infertility. No treatment rows are listed.
DisMech phenotype coverage
No local standalone PGR-related progesterone receptor deficiency, progesterone resistance, or pseudocorpus luteum deficiency target was found. PGR appears in other DisMech contexts, including hormone-responsive tumors and complex gynecologic conditions such as uterine leiomyoma and endometriosis, but those entries model tissue-context progesterone signaling or acquired progesterone resistance rather than monogenic PGR receptor deficiency.
The generated low-scoring IGF1 resistance neighbor is not biologically relevant.
Concordance and completeness
Judgement: true unmapped local disease gap.
The IEMbase record is narrow but coherent: low progesterone, endometrial immaturity, and female infertility point to progesterone receptor/resistance biology. Current DisMech PGR mentions do not provide disease-level coverage for this inherited endocrine entity and should not be repurposed as a target.
Curation actions
- Keep this IEMbase record unmapped until a standalone PGR/progesterone receptor deficiency entry exists.
- Do not map to uterine leiomyoma, endometriosis, breast cancer, or IGF1 resistance contexts.
- Future curation should capture progesterone signaling resistance, endometrial maturation failure, infertility, and the PGR mechanism.