BSCL1
MCID: CNG094
MIFTS: 26

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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OMIM:46 Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease... (608594) more...

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 autosomal recessive inheritance, clitoromegaly and labial hypertrophy. An important gene associated with Congenital Generalized Lipodystrophy Type 1 is AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2).

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 23 61
Berardinelli-Seip Congenital Lipodystrophy Type 1 42 21 61
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 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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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:

63
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:

7
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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Generalized Lipodystrophy Type 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet