Paveldimas nutukimas (leptino–melanokortino kelias)
Ankstyvos pradžios sunkus nutukimas, kurį sukelia vienos genos defektai, reguliuojantys apetitą, įskaitant MC4R, SIM1 (dominuojantis) ir LEP, LEPR, POMC bei PCSK1 (recesyvūs) trūkumus.
Ką keičia diagnozė
Kai kurioms formoms yra taikomų vaistų: metreleptinas leptino trūkumui ir setmelanotidas POMC, PCSK1 ir LEPR trūkumui gydyti.
Taip pat žinoma kaip
genetic obesity; genetic obesity (disease); leanness, inherited, autosomal recessive; monogenic obesity; obesity, association with, Autosomal recessive; obesity, early-onset, susceptibility to, Autosomal recessive; obesity, late-onset, Autosomal recessive; obesity, mild, early-onset, Autosomal recessive; obesity, severe, and type II diabetes, Autosomal recessive; obesity, severe, Autosomal recessive; obesity, susceptibility to, Autosomal recessive
Apima 7 susijusius poporūšius ↓Slėpti poporūšius ↑
- obesity due to CEP19 deficiency
- obesity due to congenital leptin deficiency
- obesity due to leptin receptor gene deficiency
- obesity due to melanocortin 4 receptor deficiency
- obesity due to pro-opiomelanocortin deficiency
- obesity due to prohormone convertase I deficiency
- obesity due to SIM1 deficiency
