Svensk definition
Medfödda sjukdomar, oftast autosomalt recessiva, som kännetecknas av svårartad brist på fettvävnad, extrem insulinresistens och hypertriglyceridemi.
Lipodystrophy, Congenital Generalized
Lipodystrofi, medfödd generaliserad
Engelsk definition
Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Congenital Generalized Lipodystrophies — Generalized Lipodystrophies, Congenital — Generalized Lipodystrophy, Congenital — Lipodystrophies, Congenital Generalized — Congenital Generalized Lipodystrophy — Total Lipodystrophy — Lipodystrophies, Total — Lipodystrophy, Total — Total Lipodystrophies — Brunzell Syndrome (with Bone Cysts) — Syndrome, Brunzell (with Bone Cysts) — Generalized Lipodystrophy — Generalized Lipodystrophies — Lipodystrophies, Generalized — Lipodystrophy, Generalized — Berardinelli-Seip Congenital Lipodystrophy — Berardinelli Seip Congenital Lipodystrophy — Congenital Lipodystrophy, Berardinelli-Seip — Lipodystrophy, Berardinelli-Seip Congenital — Berardinelli-Seip Syndrome — Berardinelli Seip Syndrome — Syndrome, Berardinelli-Seip — Congenital Generalized Lipodystrophy Type 1 — Berardinelli-Seip Congenital Lipodystrophy, Type 1 — Berardinelli Seip Congenital Lipodystrophy, Type 1 — Brunzell Syndrome, AGPAT2-Related — AGPAT2-Related Brunzell Syndrome — Brunzell Syndrome, AGPAT2 Related — Syndrome, AGPAT2-Related Brunzell — Berardinelli-Seip Congenital Lipodystrophy Type 1 — Berardinelli Seip Congenital Lipodystrophy Type 1 — Lipodystrophy, Berardinelli-Seip Congenital, Type 1 — Lipodystrophy, Congenital Generalized, Type 1 — Congenital Generalized Lipodystrophy Type 2 — Berardinelli-Seip Congenital Lipodystrophy, Type 2 — Berardinelli Seip Congenital Lipodystrophy, Type 2 — Berardinelli-Seip Congenital Lipodystrophy Type 2 — Berardinelli Seip Congenital Lipodystrophy Type 2 — Berardinelli Syndrome — Syndrome, Berardinelli — Brunzell Syndrome — Syndrome, Brunzell — Brunzell Syndrome, BSCL2-Related — BSCL2-Related Brunzell Syndrome — Brunzell Syndrome, BSCL2 Related — Syndrome, BSCL2-Related Brunzell — Seip Syndrome — Syndrome, Seip — Total Lipodystrophy and Acromegaloid Gigantism — Lipodystrophy, Berardinelli-Seip Congenital, Type 2 — Lipoatrophic Diabetes, Congenital — Lipodystrophy, Total, And Acromegaloid Gigantism — Lipodystrophy, Congenital Generalized, Type 2 — Congenital Lipoatrophic Diabetes — Congenital Lipoatrophic Diabete — Diabete, Congenital Lipoatrophic — Diabetes, Congenital Lipoatrophic — Lipoatrophic Diabete, Congenital