disease 1,302 words KG: ent-dise-2eacab5c 2026-03-24
kind:diseasesection:diseasesstate:published
Contents

Hereditary Paraganglioma

Disease Info
TMEM127Transmembrane protein involved in mTOR signaling
MAXMYC-associated factor, part of the MYC-MAX transcriptional network
VHLVon Hippel-Lindau disease, shares pseudohypoxia pathway
RETMultiple Endocrine Neoplasia type 2
Neck massPainless, pulsatile neck mass
HoarsenessVagal nerve involvement
DysphagiaEsophageal compression
Catecholamine excessHypertension, headaches, palpitations, sweating
Metastatic diseaseBone pain, weight loss (malignant cases)
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph