familial obesity

Introduction

Genetic disorders with obesity as an isolated or predominant feature

Genetics

• autosomal recessive
  • leptin deficiency
  • leptin receptor deficiency
  • prohormone convertase-1 deficiency
  • proopiomelanocortin deficiency
• autosomal dominant
  • mutation in the melanocortin-4 receptor gene
  • defects in AGRP
• X-linked
  • genetic variations in SLC6A14 may be associated with susceptibility to X-linked obesity
• major obesity susceptibility loci appear to be located on
  • chromosome 4
  • chromosome 10
  • chromosome 20
• single-nucleotide polymorphisms
  • ghrelin gene
  • APOE
  • TGF-beta-1
• a polymorphism of mitochondrial DNA has been associated with obesity-related variables & lipid metabolism

More general terms

• lipid metabolism, inborn error; lipid storage disease; lipidosis

Database

• OMIM: https://mirror.omim.org/entry/601665
• OMIM: https://mirror.omim.org/entry/164160
• OMIM: https://mirror.omim.org/entry/601007
• OMIM: https://mirror.omim.org/entry/162150
• OMIM: https://mirror.omim.org/entry/176830
• OMIM: https://mirror.omim.org/entry/155541
• OMIM: https://mirror.omim.org/entry/608410
• OMIM: https://mirror.omim.org/entry/603188
• OMIM: https://mirror.omim.org/entry/602025
• OMIM: https://mirror.omim.org/entry/605353
• OMIM: https://mirror.omim.org/entry/516020
• OMIM: https://mirror.omim.org/entry/107741
• OMIM: https://mirror.omim.org/entry/190180
• OMIM: https://mirror.omim.org/entry/300306