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VHL phenotype classification (Type 1 / 2A / 2B / 2C)

Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.

IDBIO-VHL-CLASSIFICATION-PHENOTYPE
TipoBiomarcador
Aliaces
VHL tipo 1VHL tipo 2AVHL tipo 2BVHL tipo 2CVHL phenotype stratificationClasificación del subtipo del fenotipo de VHLКласифікація фенотипу VHL (Тип 1 / 2A / 2B / 2C)
Situaciónreviewed 2026-05-18 | pending_clinical_signoff
EnfermedadesNinguna declarada
FuentesSRC-NCCN-KIDNEY-2025 SRC-NCCN-NET-2025

Datos sobre biomarcadores

Tipo de biomarcadorcomposite_score
Detalles de la mutación{"functional_impact": "loss_of_function (partial vs complete)", "gene": "VHL", "gene_hugo_id": "HGNC:12687", "variant_type": "missense / truncating / large deletion (variant class predicts phenotype)"}
Productos químicos y químicosBIO-VHL-GERMLINE

Notas

Composite genotype-phenotype classification for von Hippel-Lindau syndrome (germline VHL pathogenic variant carriers). Four canonical subtypes based on pheochromocytoma risk and variant class: • Type 1: complete-loss-of-function variants (truncating, large deletions, missense disrupting elongin-binding) — RCC + CNS/retinal hemangioblastomas + pancreatic NET/cysts WITHOUT pheochromocytoma (or very low pheo risk). • Type 2A: specific missense variants (e.g., Tyr98His) — pheo + CNS/ retinal hemangioblastomas, LOW RCC risk. • Type 2B: missense variants (e.g., Arg167Trp / Arg167Gln) — pheo + RCC + CNS/retinal hemangioblastomas (full classical VHL spectrum). • Type 2C: rare missense variants (e.g., Leu188Val) — pheochromocytoma ONLY (no RCC, no hemangioblastomas). Surveillance intensity follows phenotype: ALL types get annual ophthalmologic exam + brain/spine MRI; Type 1 + 2B get annual abdominal MRI; Type 2A/2B/2C get annual plasma metanephrines (see BIO-METANEPHRINES-PLASMA-PHEO). Belzutifan (HIF-2α inhibitor) approved for VHL-associated RCC, hemangioblastoma, pNET in adults with non- immediately-resectable disease. Classification guides discussion with patient/family but does NOT red...

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Biomarcador