BSCL1
MCID: CNG094
MIFTS: 13

Congenital Generalized Lipodystrophy Type 1 (BSCL1) malady

Summaries for Congenital Generalized Lipodystrophy Type 1

Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Congenital Generalized Lipodystrophy Type 1, also known as berardinelli-seip congenital lipodystrophy type 1, is related to congenital generalized lipodystrophy type 2. An important gene associated with Congenital Generalized Lipodystrophy Type 1 is AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2).

Description from OMIM:47 608594

Aliases & Classifications for Congenital Generalized Lipodystrophy Type 1

Sources:
61UMLS, 43NIH Rare Diseases, 22GTR, 20GeneTests, 47OMIM
See all sources

Aliases & Descriptions:

congenital generalized lipodystrophy type 1 43 22 61
berardinelli-seip congenital lipodystrophy type 1 43 20
lipodystrophy, congenital generalized, type 1 47
congenital generalized lipodystrophy type 2 61
bscl1 43


Related Diseases for Congenital Generalized Lipodystrophy Type 1

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the congenital generalized lipodystrophy type 2 family:

congenital generalized lipodystrophy congenital generalized lipodystrophy type 1
congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy type 3
acquired generalized lipodystrophy

Diseases related to Congenital Generalized Lipodystrophy Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital generalized lipodystrophy type 210.6

Clinical Features for Congenital Generalized Lipodystrophy Type 1

Sources:
47OMIM
See all sources

Clinical features from OMIM:

608594

Clinical synopsis from OMIM:

608594

Drugs & Therapeutics for Congenital Generalized Lipodystrophy Type 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Congenital Generalized Lipodystrophy Type 1

Drug clinical trials:

Search ClinicalTrials for Congenital Generalized Lipodystrophy Type 1

Search NIH Clinical Center for Congenital Generalized Lipodystrophy Type 1

Search CenterWatch for Congenital Generalized Lipodystrophy Type 1

Genetic Tests for Congenital Generalized Lipodystrophy Type 1

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Congenital Generalized Lipodystrophy Type 1:

id Genetic test Affiliating Genes
1 Berardinelli-seip Congenital Lipodystrophy Type 120 AGPAT2
2 Congenital Generalized Lipodystrophy Type 122

Anatomical Context for Congenital Generalized Lipodystrophy Type 1

Animal Models for Congenital Generalized Lipodystrophy Type 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Congenital Generalized Lipodystrophy Type 1

Genetic Variations for Congenital Generalized Lipodystrophy Type 1

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Congenital Generalized Lipodystrophy Type 1:

63
id Symbol AA change Variation SNP ID
1AGPAT2p.Ala239ValVAR_017325rs145975461
2AGPAT2p.Leu228ProVAR_017327
3AGPAT2p.Gly136ArgVAR_017328

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Search GEO for disease gene expression data for Congenital Generalized Lipodystrophy Type 1.

Pathways for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Compounds for genes affiliated with Congenital Generalized Lipodystrophy Type 1

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy Type 1

Products for genes affiliated with Congenital Generalized Lipodystrophy Type 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Generalized Lipodystrophy Type 1

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet