Arvelig fedme (leptin-melanocortin-vejen)
Svær fedme med tidlig debut forårsaget af enkeltgen-defekter i appetitregulering, herunder MC4R-, SIM1-defekter (dominant) samt LEP-, LEPR-, POMC- og PCSK1-mangel (recessiv).
Hvad en diagnose ændrer
Målrettede lægemidler findes til nogle former: metreleptin ved leptinmangel og setmelanotid ved POMC-, PCSK1- og LEPR-mangel.
Også kendt som
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
Omfatter 7 beslægtede undertyper ↓Skjul undertyper ↑
- 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
