Obesity due to melanocortin 4 receptor deficiency

Orpha code: 71529OMIM code: 618406

Definition

Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.

Disease data
Classification

Etiological subtype

Synonyms
MC4R deficiency
Niedobór MC4R
ORPHA code
71529
OMIM code
618406
ICD10 code
E66.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl