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Berardinelli-Seip congenital lipodystrophy

MONDO:0018883

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.

Also known as: BSCL, Beradinelli-Seip syndrome, Berardinelli Seip syndrome, Berardinelli lipodystrophy syndrome, Brunzell syndrome, GCL, Seip-Bernardinelli syndrome, generalised congenital lipodystrophy

4 clinical trials for this condition and its sub-types, 0 tagged with Berardinelli-Seip congenital lipodystrophy itself.

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Part of

↑ Disorder of development or morphogenesis (5170) ↑ Hereditary lipodystrophy (17)

Sub-types of Berardinelli-Seip congenital lipodystrophy

Congenital generalized lipodystrophy type 3 1 trial
PPARG-associated congenital generalized lipodystrophy 0 trials
Congenital generalized lipodystrophy type 1 0 trials
Congenital generalized lipodystrophy type 2 0 trials

Including sub-types (4) Tagged with Berardinelli-Seip congenital lipodystrophy (0)

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