MCID: BRR012
MIFTS: 40
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Berardinelli-Seip Congenital Lipodystrophy
Categories:
Genetic diseases
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MalaCards based summary
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Berardinelli-Seip Congenital Lipodystrophy, also known as berardinelli-seip congenital generalized lipodystrophy, is related to congenital generalized lipodystrophy and lipodystrophy, congenital generalized, type 2. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways/superpathways are Adipogenesis and Signaling events mediated by PTP1B. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and skin, and related phenotypes are diabetes mellitus and precocious puberty
GeneReviews:
NBK1212
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Human phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:32 (show top 50) (show all 69)
MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:46
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Drugs for Berardinelli-Seip Congenital Lipodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
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MalaCards organs/tissues related to Berardinelli-Seip Congenital Lipodystrophy:41
Skeletal Muscle,
Bone,
Skin,
Heart,
Ovary,
Adipocyte
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Articles related to Berardinelli-Seip Congenital Lipodystrophy:(show all 35)
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Copy number variations for Berardinelli-Seip Congenital Lipodystrophy from CNVD:7
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Search
GEO
for disease gene expression data for Berardinelli-Seip Congenital Lipodystrophy.
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Biological processes related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:
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