MCID: LPD032
MIFTS: 32

Lipodystrophy, Congenital Generalized, Type 1 malady

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

About this section

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

Name: Lipodystrophy, Congenital Generalized, Type 1 49 11
Berardinelli-Seip Congenital Lipodystrophy Type 1 45 22 67
Congenital Generalized Lipodystrophy Type 1 45 24 65
Bscl1 45 22 67
Brunzell Syndrome, Agpat2-Related 45 22
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 1 22
Total Lipodystrophy and Acromegaloid Gigantism 67
 
Congenital Generalized Lipodystrophy 1 67
Brunzell Syndrome Agpat2-Related 67
Lipodystrophy Berardinelli Type 67
Berardinelli-Seip Syndrome 67
Lipoatrophic Diabetes 67
Bscl Type 1 22
Cgl1 67


Classifications:



External Ids:

OMIM49 608594
MedGen34 C1720862
MeSH36 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 1

About this section
OMIM:49 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 berardinelli-seip congenital lipodystrophy type 1, is related to lipodystrophy and lipodystrophy, familial partial, 2, 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, ovary and skin.

UniProtKB/Swiss-Prot:67 Congenital generalized lipodystrophy 1: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

Related Diseases for Lipodystrophy, Congenital Generalized, Type 1

About this section

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 1:



Diseases related to lipodystrophy, congenital generalized, type 1

Symptoms for Lipodystrophy, Congenital Generalized, Type 1

About this section

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

About this section

Interventional clinical trials:

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

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 1

About this section

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

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy Type 122 AGPAT2
2 Congenital Generalized Lipodystrophy Type 124

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

About this section

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

33
Bone, Ovary, Skin

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

About this section

Publications for Lipodystrophy, Congenital Generalized, Type 1

About this section

Variations for Lipodystrophy, Congenital Generalized, Type 1

About this section

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

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AGPAT2NM_006412.3(AGPAT2): c.406G> A (p.Gly136Arg)single nucleotide variantPathogenicrs797045222GRCh38Chr 9, 136677047: 136677047
2AGPAT2NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter)single nucleotide variantPathogenicrs104894093GRCh37Chr 9, 139571989: 139571989
3AGPAT2NM_006412.3(AGPAT2): c.589-2A> Gsingle nucleotide variantPathogenicrs116807569GRCh38Chr 9, 136674809: 136674809
4AGPAT2NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs)duplicationPathogenicrs387906355GRCh37Chr 9, 139571528: 139571528
5AGPAT2NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro)single nucleotide variantPathogenicrs104894100GRCh37Chr 9, 139568358: 139568358
6AGPAT2NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del)deletionPathogenicrs387906356GRCh37Chr 9, 139571485: 139571487
7AGPAT2NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter)single nucleotide variantPathogenicrs121908925GRCh37Chr 9, 139569205: 139569205
8AGPAT2NM_006412.3(AGPAT2): c.493-1G> Csingle nucleotide variantPathogenicrs606231168GRCh38Chr 9, 136676681: 136676681
9AGPAT2NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter)single nucleotide variantPathogenicrs121908926GRCh37Chr 9, 139571055: 139571055
10AGPAT2NM_001012727.1(AGPAT2): c.366_492+910del1037deletionPathogenicGRCh37Chr 9, 139570503: 139571539

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

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

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

About this section

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

About this section

Sources for Lipodystrophy, Congenital Generalized, Type 1

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet