Päriliku päritoluga rasvumine (leptiin-melanokortiini rada)
Varajases eas algav raske rasvumine, mis on põhjustatud isutuse reguleerimise ühe geeni defektidest, sh MC4R, SIM1 (domineeriv) ning LEP, LEPR, POMC ja PCSK1 (retsessiivne) puudulikkus.
Mida diagnoos muudab
Mõnede vormide puhul on saadaval sihtravimid: metreleptiin leptiini puudulikkuse korral ning setmelanotiid POMC, PCSK1 ja LEPR puudulikkuse korral.
Tuntud ka nimetustena
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
Hõlmab 7 seotud alatüüpi ↓Peida alatüübid ↑
- 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
