MCID: LPD032
MIFTS: 30

Lipodystrophy, Congenital Generalized, Type 1 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Endocrine diseases, Muscle diseases

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 1

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

Name: Lipodystrophy, Congenital Generalized, Type 1 50 12
Berardinelli-Seip Congenital Lipodystrophy Type 1 46 23 68
Bscl1 46 23 68
Congenital Generalized Lipodystrophy Type 1 46 66
Congenital Generalized Lipodystrophy 1 68 25
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 1 23
Total Lipodystrophy and Acromegaloid Gigantism 68
Lipodystrophy, Congenital Generalized 37
 
Brunzell Syndrome, Agpat2-Related 46
Agpat2-Related Brunzell Syndrome 23
Brunzell Syndrome Agpat2-Related 68
Lipodystrophy Berardinelli Type 68
Berardinelli-Seip Syndrome 68
Lipoatrophic Diabetes 68
Bscl Type 1 23
Cgl1 68

Characteristics:

HPO:

62
lipodystrophy, congenital generalized, type 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 608594
MedGen35 C1720862
MeSH37 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 1

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OMIM:50 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, congenital generalized, type 4 and aredyld, and has symptoms including hepatomegaly, hepatomegaly and clitoral hypertrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 1 is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2). Affiliated tissues include ovary and bone.

UniProtKB/Swiss-Prot:68 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

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



Diseases related to lipodystrophy, congenital generalized, type 1

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

UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 1:


hepatomegaly

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 1

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Interventional clinical trials:

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


Cochrane evidence based reviews: lipodystrophy, congenital generalized

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 Congenital Generalized Lipodystrophy Type 125
2 Berardinelli-Seip Congenital Lipodystrophy Type 123 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

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

34
Ovary, Bone

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:

68
id Symbol AA change Variation ID SNP ID
1AGPAT2p.Ala239ValVAR_017325rs145975461
2AGPAT2p.Leu228ProVAR_017327rs104894100
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

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

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Sources for Lipodystrophy, Congenital Generalized, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet