Berardinelli-Seip congenital lipodystrophy

rare

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.

Identifiers: MONDO:0018883 Orphanet:528
Part of: Disorder of development or morphogenesis Hereditary lipodystrophy
Also known as: Beradinelli-Seip syndrome · Berardinelli lipodystrophy syndrome · Berardinelli Seip syndrome · Brunzell syndrome · BSCL

Subtypes

All diseases Rare only

Disease

PPARG-associated congenital generalized lipodystrophy MONDO:0979300 PPARG
Congenital generalized lipodystrophy type 1 MONDO:0012071 AGPAT2
Congenital generalized lipodystrophy type 2 MONDO:0010020 BSCL2
Congenital generalized lipodystrophy type 3 MONDO:0012923 CAV1

Projects

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