BSCL1
MCID: CNG094
MIFTS: 17

Congenital Generalized Lipodystrophy Type 1 (BSCL1) malady

Summaries for Congenital Generalized Lipodystrophy Type 1

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46OMIM, 32MalaCards
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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:46 608594

Aliases & Classifications for Congenital Generalized Lipodystrophy Type 1

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Sources:
60UMLS, 42NIH Rare Diseases, 22GTR, 20GeneTests, 46OMIM
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Aliases & Descriptions:

congenital generalized lipodystrophy type 1 42 22 60
berardinelli-seip congenital lipodystrophy type 1 42 20
lipodystrophy, congenital generalized, type 1 46
congenital generalized lipodystrophy type 2 60
bscl1 42


Related Diseases for Congenital Generalized Lipodystrophy Type 1

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17GeneCards, 18GeneDecks
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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 210.5

Clinical Features for Congenital Generalized Lipodystrophy Type 1

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46OMIM
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Clinical features from OMIM:

608594

Clinical synopsis from OMIM:

608594

Drugs & Therapeutics for Congenital Generalized Lipodystrophy Type 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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20GeneTests, 22GTR
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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

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Animal Models for Congenital Generalized Lipodystrophy Type 1 or affiliated genes

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Publications for Congenital Generalized Lipodystrophy Type 1

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Genetic Variations for Congenital Generalized Lipodystrophy Type 1

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Generalized Lipodystrophy Type 1:

62
id Symbol AA change Variation ID SNP ID
1AGPAT2p.Ala239ValVAR_017325rs145975461
2AGPAT2p.Leu228ProVAR_017327
3AGPAT2p.Gly136ArgVAR_017328

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Congenital Generalized Lipodystrophy Type 1

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GO Terms for genes affiliated with Congenital Generalized Lipodystrophy Type 1

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Products for genes affiliated with Congenital Generalized Lipodystrophy Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Generalized Lipodystrophy Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet