Generalised congenital lipodystrophy with myopathy (Q88698): Difference between revisions
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Lipodistrofia congênita generalizada é uma doença autossômica recessiva rara, caracterizada pela ausência quase completa de tecido adiposo ao nascimento ou durante a primeira infância. As principais manifestações clínicas são hipertrofia muscular generalizada e, consequentemente, uma aparência marcantemente muscular, resistência à insulina grave e hipertrigliceridemia. Outras manifestações incluem acantose nigricans, hepatomegalia devida a esteatose hepática, esplenomegalia, incapacidade intelectual e cardiomiopatia hipertrófica e múltiplas lesões líticas focais nos ossos apendiculares. A lipodistrofia congênita generalizada tem sido associada a variantes em quatro genes, causando quatro fenótipos diferentes com algumas manifestações clínicas sobrepostas. | |||
| description / en | description / en | ||
Congenital generalised lipodystrophy is a rare autosomal recessive disease, characterised by almost complete absence of adipose tissue at birth or during early infancy. Main clinical features are generalised muscular hypertrophy and consequently a markedly muscular appearance, severe insulin resistance and hypertriglyceridaemia. Other manifestations include acanthosis nigricans, hepatomegaly due to hepatic steatosis, splenomegaly, intellectual disability and hypertrophic cardiomyopathy, and multiple focal lytic lesions in the appendicular bones. Congenital generalised lipodystrophy has been linked with variants in four genes, causing four different phenotypes with some overlapping clinical manifestations. | |||
Revision as of 15:05, 15 August 2026
Congenital generalised lipodystrophy is a rare autosomal recessive disease, characterised by almost complete absence of adipose tissue at birth or during early infancy. Main clinical features are generalised muscular hypertrophy and consequently a markedly muscular appearance, severe insulin resistance and hypertriglyceridaemia. Other manifestations include acanthosis nigricans, hepatomegaly due to hepatic steatosis, splenomegaly, intellectual disability and hypertrophic cardiomyopathy, and multiple focal lytic lesions in the appendicular bones. Congenital generalised lipodystrophy has been linked with variants in four genes, causing four different phenotypes with some overlapping clinical manifestations.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_631318078 |
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| English | Generalised congenital lipodystrophy with myopathy |
Congenital generalised lipodystrophy is a rare autosomal recessive disease, characterised by almost complete absence of adipose tissue at birth or during early infancy. Main clinical features are generalised muscular hypertrophy and consequently a markedly muscular appearance, severe insulin resistance and hypertriglyceridaemia. Other manifestations include acanthosis nigricans, hepatomegaly due to hepatic steatosis, splenomegaly, intellectual disability and hypertrophic cardiomyopathy, and multiple focal lytic lesions in the appendicular bones. Congenital generalised lipodystrophy has been linked with variants in four genes, causing four different phenotypes with some overlapping clinical manifestations. |
