Family pedigree suggestive of SDH (succinate dehydrogenase) deficiency syndrome — confirm...
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | RF-SDH-FAMILY-HISTORY-SUSPICION |
|---|---|
| Type | Red flag |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-PHEOCHROMOCYTOMA DIS-RCC |
| Sources | SRC-NCCN-BCELL-2025 |
Red Flag Origin
| Definition | Family pedigree suggestive of SDH (succinate dehydrogenase) deficiency syndrome — confirmed germline SDHB / SDHC / SDHD / SDHA / SDHAF2 pathogenic variant OR cluster of paraganglioma + pheochromocytoma + renal cell carcinoma + GIST (Carney-Stratakis). SDH-deficient RCC is aggressive (often type-2-papillary morphology). Prevention-persona RedFlag (§20 v0.2-B). |
|---|---|
| Clinical direction | investigate |
| Category | other |
Trigger Logic
{
"any_of": [
{
"finding": "family_sdh_known_pathogenic_variant",
"value": true
},
{
"finding": "family_paraganglioma_or_pheochromocytoma_pediatric_or_familial",
"value": true
},
{
"finding": "family_sdh_deficient_rcc_or_gist",
"value": true
}
],
"type": "lab_value"
}
Notes
Prevention-persona RedFlag for SDH-deficiency syndrome. STUB pending two-Co-Lead signoff.
Used By
Indications
IND-SDH-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCE- IND-SDH-SUSPICION-PREVENTION-ENHANCED-SURVEILLANCEIND-SDH-SUSPICION-PREVENTION-GENETIC-COUNSELING- IND-SDH-SUSPICION-PREVENTION-GENETIC-COUNSELING
Red flag
RF-SDH-CONFIRMED-CARRIER- Confirmed germline pathogenic / likely-pathogenic variant in one of the SDHx genes — SDHB...