Endocrinology · Endocrinology / Metabolic disorders
Congenital generalized lipodystrophy
also: Berardinelli–Seip syndrome
Near-total lack of body fat with severe insulin resistance.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Metabolic disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- AGPAT2, BSCL2, CAV1, PTRF
- Alternative names & eponyms
- Berardinelli–Seip syndrome
Etiology & mechanism
Defective adipocyte differentiation and lipid droplet formation.
Gene(s) involved (4)
Symptoms & signs (8)
In plain terms, someone with Congenital generalized lipodystrophy may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Alström syndrome
fatty liver, hypertriglyceridemia
2 shared
Donohue syndrome
acanthosis nigricans, hirsutism
2 shared
Familial partial lipodystrophy
fatty liver, hypertriglyceridemia
2 shared
Polycystic ovary syndrome
acanthosis nigricans, hirsutism
2 shared
Rabson–Mendenhall syndrome
acanthosis nigricans, severe insulin resistance
1 shared
Chanarin–Dorfman syndrome
fatty liver
1 shared
Cushing syndrome
hirsutism
1 shared
Hemophagocytic lymphohistiocytosis
hypertriglyceridemia
1 shared
Metabolic syndrome
fatty liver
Shares genes with
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