BSCL1
MCID: CNG094
MIFTS: 23

Congenital Generalized Lipodystrophy Type 1 (BSCL1) malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Muscle diseases categories

Summaries for Congenital Generalized Lipodystrophy Type 1

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48OMIM, 34MalaCards
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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 and lipodystrophy. An important gene associated with Congenital Generalized Lipodystrophy Type 1 is AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2).

Description from OMIM:48 608594

Aliases & Classifications for Congenital Generalized Lipodystrophy Type 1

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44NIH Rare Diseases, 23GTR, 63UMLS, 21GeneTests, 48OMIM
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Classifications:



Aliases & Descriptions:

congenital generalized lipodystrophy type 1 44 23 63
berardinelli-seip congenital lipodystrophy type 1 44 21
lipodystrophy, congenital generalized, type 1 48
congenital generalized lipodystrophy type 2 63
brunzell syndrome, agpat2-related 44
bscl1 44


Related Diseases for Congenital Generalized Lipodystrophy Type 1

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18GeneCards, 19GeneDecks
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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 lipodystrophy10.3
2lipodystrophy10.3

Symptoms for Congenital Generalized Lipodystrophy Type 1

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48OMIM
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Symptoms by clinical synopsis from OMIM:

608594

Clinical features from OMIM:

608594

Drugs & Therapeutics for Congenital Generalized Lipodystrophy Type 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Congenital Generalized Lipodystrophy Type 1

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21GeneTests, 23GTR
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Genetic tests related to Congenital Generalized Lipodystrophy Type 1:

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy Type 121 AGPAT2
2 Congenital Generalized Lipodystrophy Type 123

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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53PubMed
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Articles related to Congenital Generalized Lipodystrophy Type 1:

idTitleAuthorsYear
1
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. (22902344)
2012

Variations for Congenital Generalized Lipodystrophy Type 1

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Generalized Lipodystrophy Type 1:

65
id Symbol AA change Variation ID SNP ID
1AGPAT2p.Ala239ValVAR_017325rs145975461
2AGPAT2p.Leu228ProVAR_017327
3AGPAT2p.Gly136ArgVAR_017328

Clinvar genetic disease variations for Congenital Generalized Lipodystrophy Type 1:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1NM_001122955.3(BSCL2): c.604C> T (p.Arg202Ter)single nucleotide variantPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
2NM_001122955.3(BSCL2): c.826G> C (p.Ala276Pro)single nucleotide variantPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
3NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
4NM_001122955.3(BSCL2): c.757G> T (p.Glu253Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143
5AGPAT2NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter)single nucleotide variantPathogenicrs104894093GRCh37Chr 9, 139571989: 139571989
6AGPAT2AGPAT2, IVS4AS, A-G, -2single nucleotide variantPathogenic
7AGPAT2NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs)duplicationPathogenicrs387906355GRCh37Chr 9, 139571527: 139571528
8AGPAT2NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro)single nucleotide variantPathogenicrs104894100GRCh37Chr 9, 139568358: 139568358
9AGPAT2NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del)deletionPathogenicrs387906356GRCh37Chr 9, 139571485: 139571487
10AGPAT2NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter)single nucleotide variantPathogenicrs121908925GRCh37Chr 9, 139569205: 139569205
11AGPAT2AGPAT2, IVS3, A-G, -1single nucleotide variantPathogenic
12AGPAT2NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter)single nucleotide variantPathogenicrs121908926GRCh37Chr 9, 139571055: 139571055
13AGPAT2NM_001012727.1: c.366_492+910del1037deletionPathogenicGRCh37Chr 9, 139570503: 139571539

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Generalized Lipodystrophy Type 1

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet