IEMbase 0377: SCARB1-related scavenger receptor B1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 377 |
| Nosology | 15.4.3.01 |
| Gene | SCARB1 |
| External IDs | OMIM:601040; OMIM:610762 |
| Generated mapping | UNMAPPED; low candidate Triple_Negative_Breast_Cancer.yaml#Luminal Androgen Receptor (LAR) TNBC |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents SCARB1-related scavenger receptor B1 deficiency, also listed as SRB1 deficiency. Inheritance is listed as autosomal dominant and autosomal recessive.
The cached record is sparse. It lists abnormal platelet function and biochemical rows for serum cholesterol, plasma HDL cholesterol, and serum triglyceride. There are no treatment rows.
DisMech phenotype coverage
There is no exact local DisMech target for SCARB1 deficiency. The generated low
candidate Triple_Negative_Breast_Cancer.yaml#Luminal Androgen Receptor (LAR)
TNBC is a false positive from weak lexical or biology-adjacent matching. The
TNBC file models an oncology subtype defined by absent ER/PR/HER2 expression
and tumor pathway biology, not SCARB1-mediated HDL handling or platelet
function.
General cardiovascular and lipid-metabolism files may provide downstream context, but no curated SCARB1 deficiency disease entry is present.
Concordance and completeness
Judgement: true local gap; reject the triple-negative breast cancer candidate.
The IEMbase disease is an inherited lipid/HDL receptor disorder involving SCARB1, whereas the generated candidate is a breast cancer molecular subtype. There is no meaningful disease-level concordance.
Curation actions
- Keep this record unmapped until a SCARB1/SR-BI deficiency target exists.
- Do not map to
Triple_Negative_Breast_Cancer.yaml. - If curated, include inheritance heterogeneity, HDL cholesterol, serum cholesterol/triglyceride rows, and abnormal platelet function as review prompts.