BSCL1
MCID: CNG094
MIFTS: 22

Congenital Generalized Lipodystrophy Type 1 (BSCL1) malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Congenital Generalized Lipodystrophy Type 1

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MalaCards based summary: Congenital Generalized Lipodystrophy Type 1, also known as berardinelli-seip congenital lipodystrophy type 1, is related to congenital generalized lipodystrophy and lipodystrophy, and has symptoms including 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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Congenital Generalized Lipodystrophy Type 1, Aliases & Descriptions:

Name: Congenital Generalized Lipodystrophy Type 1 42 22 62
Berardinelli-Seip Congenital Lipodystrophy Type 1 42 20 62
Lipodystrophy, Congenital Generalized, Type 1 46
 
Brunzell Syndrome, Agpat2-Related 42
Bscl1 42


Classifications:



Related Diseases for Congenital Generalized Lipodystrophy Type 1

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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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Symptoms by clinical synopsis from OMIM:

608594

Clinical features from OMIM:

608594

HPO human phenotypes related to Congenital Generalized Lipodystrophy Type 1:

(show all 29)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 clitoromegaly HP:0000057
3 labial hypertrophy HP:0000065
4 tall stature HP:0000098
5 polycystic ovaries HP:0000147
6 mandibular prognathia HP:0000303
7 hyperinsulinemia HP:0000842
8 decreased fertility in females HP:0000868
9 decreased fertility in females HP:0000868
10 insulin-resistant diabetes mellitus at puberty HP:0000877
11 acanthosis nigricans HP:0000956
12 hirsutism HP:0001007
13 large hands HP:0001176
14 cirrhosis HP:0001394
15 hepatic steatosis HP:0001397
16 umbilical hernia HP:0001537
17 prominent umbilicus HP:0001544
18 acute pancreatitis HP:0001735
19 splenomegaly HP:0001744
20 long foot HP:0001833
21 hypertriglyceridemia HP:0002155
22 hepatomegaly HP:0002240
23 polyphagia HP:0002591
24 cystic angiomatosis of bone HP:0002833
25 decreased serum leptin HP:0003292
26 generalized muscular appearance from birth HP:0003716
27 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0003809
28 accelerated skeletal maturation HP:0005616
29 lipodystrophy HP:0009125

Drugs & Therapeutics for Congenital Generalized Lipodystrophy Type 1

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Drug clinical trials:

Search ClinicalTrials for Congenital Generalized Lipodystrophy Type 1

Search NIH Clinical Center for Congenital Generalized Lipodystrophy Type 1

Genetic Tests for Congenital Generalized Lipodystrophy Type 1

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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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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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UniProtKB/Swiss-Prot genetic disease variations for Congenital Generalized Lipodystrophy Type 1:

64
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1AGPAT2NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter)single nucleotide variantPathogenicrs104894093GRCh37Chr 9, 139571989: 139571989
2AGPAT2AGPAT2, IVS4AS, A-G, -2single nucleotide variantPathogenic
3AGPAT2NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs)duplicationPathogenicrs387906355GRCh37Chr 9, 139571527: 139571528
4AGPAT2NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro)single nucleotide variantPathogenicrs104894100GRCh37Chr 9, 139568358: 139568358
5AGPAT2NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del)deletionPathogenicrs387906356GRCh37Chr 9, 139571485: 139571487
6AGPAT2NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter)single nucleotide variantPathogenicrs121908925GRCh37Chr 9, 139569205: 139569205
7AGPAT2AGPAT2, IVS3, A-G, -1single nucleotide variantPathogenic
8AGPAT2NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter)single nucleotide variantPathogenicrs121908926GRCh37Chr 9, 139571055: 139571055
9AGPAT2NM_001012727.1: c.366_492+910del1037deletionPathogenicGRCh37Chr 9, 139570503: 139571539

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 1

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet