Berardinelli-Seip congenital lipodystrophy
A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance.
MONDO:0005015
diabetes mellitus
excluded_subClassOf
MONDO:0015333
progeroid syndrome
excluded_subClassOf
MONDO:0020087
hereditary lipodystrophy
is_a
MONDO:0021147
disorder of development or morphogenesis
is_a
BSCL
exact
Beradinelli-Seip syndrome
exact
Berardinelli Seip syndrome
exact
Berardinelli lipodystrophy syndrome
exact
Brunzell syndrome
exact
GCL
exact
Seip-Bernardinelli syndrome
exact
congenital generalised lipodystrophy
related
generalised congenital lipodystrophy
exact
generalized congenital lipodystrophy
exact
total lipodystrophy
exact
SPAC3A11.04 SPAC1851.02