MCID: LPD032
MIFTS: 25

Lipodystrophy, Congenital Generalized, Type 1 malady

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

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Lipodystrophy, Congenital Generalized, Type 1, Aliases & Descriptions:

Name: Lipodystrophy, Congenital Generalized, Type 1 45 10
Congenital Generalized Lipodystrophy Type 1 41 22 60
Berardinelli-Seip Congenital Lipodystrophy Type 1 41 20
 
Brunzell Syndrome, Agpat2-Related 41
Bscl1 41


Classifications:



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OMIM45 608594

Summaries for Lipodystrophy, Congenital Generalized, Type 1

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OMIM:45 Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease... (608594) more...

MalaCards based summary: Lipodystrophy, Congenital Generalized, Type 1, also known as congenital generalized 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 Lipodystrophy, Congenital Generalized, Type 1 is AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2). Affiliated tissues include bone and ovary.

Related Diseases for Lipodystrophy, Congenital Generalized, Type 1

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Diseases in the Acquired Generalized Lipodystrophy family:

Lipodystrophy, Congenital Generalized, Type 3 lipodystrophy, congenital generalized, type 1
Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Congenital Generalized, Type 4
Congenital Generalized Lipodystrophy

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

idRelated DiseaseScoreTop Affiliating Genes
1congenital generalized lipodystrophy10.3
2lipodystrophy10.3

Symptoms for Lipodystrophy, Congenital Generalized, Type 1

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Symptoms by clinical synopsis from OMIM:

608594

Clinical features from OMIM:

608594

HPO human phenotypes related to Lipodystrophy, Congenital Generalized, Type 1:

(show all 28)
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 insulin-resistant diabetes mellitus at puberty HP:0000877
10 acanthosis nigricans HP:0000956
11 hirsutism HP:0001007
12 large hands HP:0001176
13 cirrhosis HP:0001394
14 hepatic steatosis HP:0001397
15 umbilical hernia HP:0001537
16 prominent umbilicus HP:0001544
17 acute pancreatitis HP:0001735
18 splenomegaly HP:0001744
19 long foot HP:0001833
20 hypertriglyceridemia HP:0002155
21 hepatomegaly HP:0002240
22 polyphagia HP:0002591
23 cystic angiomatosis of bone HP:0002833
24 decreased serum leptin HP:0003292
25 generalized muscular appearance from birth HP:0003716
26 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0003809
27 accelerated skeletal maturation HP:0005616
28 lipodystrophy HP:0009125

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 1

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Drug clinical trials:

Search ClinicalTrials for Lipodystrophy, Congenital Generalized, Type 1

Search NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 1

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 1

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Genetic tests related to Lipodystrophy, Congenital Generalized, Type 1:

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

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

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MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 1:

31
Bone, Ovary

Animal Models for Lipodystrophy, Congenital Generalized, Type 1 or affiliated genes

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Publications for Lipodystrophy, Congenital Generalized, Type 1

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Variations for Lipodystrophy, Congenital Generalized, Type 1

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

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

Clinvar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 1:

6
id Gene Variation 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 Lipodystrophy, Congenital Generalized, Type 1

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

Pathways for genes affiliated with Lipodystrophy, Congenital Generalized, Type 1

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Compounds for genes affiliated with Lipodystrophy, Congenital Generalized, Type 1

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GO Terms for genes affiliated with Lipodystrophy, Congenital Generalized, Type 1

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Products for genes affiliated with Lipodystrophy, Congenital Generalized, Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lipodystrophy, Congenital Generalized, Type 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet