Berardinelli-Seip congenital lipodystrophy
Findings
No curated finding names Berardinelli-Seip congenital lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018883), read 2026-09-29. CC BY 4.0.
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Adipose tissue lossHPOHP:0008887
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Insulin resistanceHPOHP:0000855
- Very frequent (80% to 99% of cases)
- LipodystrophyHPOHP:0009125
- Very frequent (80% to 99% of cases)
- Skeletal muscle hypertrophyHPOHP:0003712
- Very frequent (80% to 99% of cases)
- Diabetes mellitusHPOHP:0000819
- Frequent (30% to 79% of cases)
- Hypertrichosis
Show the remaining 25
- Bone cystHPOHP:0012062
- Occasional (5% to 29% of cases)
- CirrhosisHPOHP:0001394
- Occasional (5% to 29% of cases)
- Clitoral hypertrophyHPOHP:0008665
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Occasional (5% to 29% of cases)
- Elevated circulating C-peptide concentrationHPOHP:0030796
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
Where it sits
Other names
10 names
Resolves to: Berardinelli-Seip congenital lipodystrophy
- Also called
- Beradinelli-Seip syndromeBerardinelli lipodystrophy syndromeBerardinelli Seip syndromeBrunzell syndromeBSCLGCLgeneralised congenital lipodystrophygeneralized congenital lipodystrophySeip-Bernardinelli syndrometotal lipodystrophy