CGL1
MCID: LPD032
MIFTS: 33

Lipodystrophy, Congenital Generalized, Type 1 (CGL1) malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Neuronal 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 52 12
Bscl1 11 48 24 70
Berardinelli-Seip Congenital Lipodystrophy Type 1 48 24 70
Congenital Generalized Lipodystrophy Type 1 11 48 68
Congenital Generalized Lipodystrophy 1 70 27
Brunzell Syndrome Agpat2-Related 11 70
Cgl1 11 70
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 1 24
Berardinelli-Seip Congenital Lipodystrophy, Type 1 11
Total Lipodystrophy and Acromegaloid Gigantism 70
 
Familial Partial Lipodystrophy, Type 2 68
Lipodystrophy, Congenital Generalized 39
Familial Generalized Lipodystrophy 68
Brunzell Syndrome, Agpat2-Related 48
Agpat2-Related Brunzell Syndrome 24
Lipodystrophy Berardinelli Type 70
Lipoatrophic Diabetes Mellitus 68
Berardinelli-Seip Syndrome 70
Lipoatrophic Diabetes 70
Bscl Type 1 24

Characteristics:

HPO:

64
lipodystrophy, congenital generalized, type 1:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 608594
Disease Ontology11 DOID:0111135
ICD1030 E88.1
MedGen37 C1720862
MeSH39 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 1

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OMIM:52 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 bscl1, is related to aredyld and lipodystrophy, familial partial, 2, and has symptoms including myalgia, labial hypertrophy and tall stature. An important gene associated with Lipodystrophy, Congenital Generalized, Type 1 is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways is Adipogenesis. Affiliated tissues include ovary, skin and bone, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and adipose tissue.

Disease Ontology:11 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Lipodystrophy, Congenital Generalized, Type 1

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Symptoms by clinical synopsis from OMIM:

608594

Clinical features from OMIM:

608594

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 1:

 64 (show all 27)
id Description HPO Frequency HPO Source Accession
1 labial hypertrophy64 HP:0000065
2 tall stature64 HP:0000098
3 polycystic ovaries64 HP:0000147
4 mandibular prognathia64 HP:0000303
5 hyperinsulinemia64 HP:0000842
6 decreased fertility in females64 HP:0000868
7 insulin-resistant diabetes mellitus at puberty64 HP:0000877
8 acanthosis nigricans64 HP:0000956
9 hirsutism64 HP:0001007
10 large hands64 HP:0001176
11 cirrhosis64 HP:0001394
12 hepatic steatosis64 HP:0001397
13 umbilical hernia64 HP:0001537
14 prominent umbilicus64 HP:0001544
15 acute pancreatitis64 HP:0001735
16 splenomegaly64 HP:0001744
17 long foot64 HP:0001833
18 hypertriglyceridemia64 HP:0002155
19 hepatomegaly64 HP:0002240
20 polyphagia64 HP:0002591
21 cystic angiomatosis of bone64 HP:0002833
22 decreased serum leptin64 HP:0003292
23 generalized muscular appearance from birth64 HP:0003716
24 reduced intrathoracic adipose tissue64 HP:0003809
25 accelerated skeletal maturation64 HP:0005616
26 clitoral hypertrophy64 HP:0008665
27 lipodystrophy64 HP:0009125

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


myalgia

GenomeRNAi Phenotypes related to Lipodystrophy, Congenital Generalized, Type 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-848.5AGPAT2, LMNA, AGPAT2, LMNA

MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537510.0AGPAT2, LMNA
2MP:00053719.1AGPAT2, LMNA

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 127
2 Berardinelli-Seip Congenital Lipodystrophy Type 124 AGPAT2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 1

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

36
Ovary, Skin, Bone

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:

70
id Symbol AA change Variation ID SNP ID
1AGPAT2p.Ala239ValVAR_017325rs145975461
2AGPAT2p.Leu228ProVAR_017327rs104894100
3AGPAT2p.Gly136ArgVAR_017328rs797045222

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

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1AGPAT2NM_ 006412.3(AGPAT2): c.406G> A (p.Gly136Arg)SNVPathogenicrs797045222GRCh37Chr 9, 139571499: 139571499
2AGPAT2NM_ 006412.3(AGPAT2): c.282delC (p.Ile94Metfs)deletionPathogenicrs886043265GRCh37Chr 9, 139571909: 139571909
3AGPAT2NM_ 006412.3(AGPAT2): c.183-2A> GSNVPathogenicrs1057517649GRCh38Chr 9, 136677558: 136677558
4AGPAT2NM_ 006412.3(AGPAT2): c.182+1G> ASNVPathogenicrs1057517650GRCh37Chr 9, 139581627: 139581627
5AGPAT2NM_ 006412.3(AGPAT2): c.194G> A (p.Trp65Ter)SNVPathogenicrs1057517651GRCh38Chr 9, 136677545: 136677545
6AGPAT2NM_ 006412.3(AGPAT2): c.299G> A (p.Ser100Asn)SNVPathogenicrs764260414GRCh37Chr 9, 139571892: 139571892
7AGPAT2NM_ 006412.3(AGPAT2): c.492+1G> ASNVPathogenicrs933422777GRCh37Chr 9, 139571412: 139571412
8AGPAT2NP_ 006403.2: p.Leu107AlafsTer279deletionPathogenic
9AGPAT2NM_ 006412.3(AGPAT2): c.514G> A (p.Glu172Lys)SNVPathogenicrs748157664GRCh38Chr 9, 136676659: 136676659
10AGPAT2NM_ 006412.3(AGPAT2): c.538delG (p.Asp180ThrfsTer73)deletionPathogenicrs1057517653GRCh37Chr 9, 139571087: 139571087
11AGPAT2NM_ 006412.3(AGPAT2): c.661+2T> GSNVPathogenicrs1057517654GRCh37Chr 9, 139569185: 139569185
12AGPAT2NM_ 006412.3(AGPAT2): c.676C> T (p.Gln226Ter)SNVPathogenicrs1057517655GRCh37Chr 9, 139568365: 139568365
13AGPAT2NM_ 006412.3(AGPAT2): c.713C> G (p.Ala238Gly)SNVPathogenicrs200656731GRCh37Chr 9, 139568328: 139568328
14AGPAT2NM_ 006412.3(AGPAT2): c.755_ 763delTGAGGACCA (p.Met252_ Thr254del)deletionPathogenicrs1057517656GRCh37Chr 9, 139568278: 139568286
15AGPAT2NM_ 006412.3(AGPAT2): c.503G> A (p.Trp168Ter)SNVPathogenicrs1057518714GRCh37Chr 9, 139571122: 139571122
16AGPAT2NM_ 006412.3(AGPAT2): c.202C> T (p.Arg68Ter)SNVPathogenicrs104894093GRCh37Chr 9, 139571989: 139571989
17AGPAT2NM_ 006412.3(AGPAT2): c.589-2A> GSNVPathogenicrs116807569GRCh38Chr 9, 136674809: 136674809
18AGPAT2NM_ 006412.3(AGPAT2): c.377dupT (p.Pro128Alafs)duplicationPathogenicrs387906355GRCh37Chr 9, 139571528: 139571528
19AGPAT2NM_ 006412.3(AGPAT2): c.683T> C (p.Leu228Pro)SNVPathogenicrs104894100GRCh37Chr 9, 139568358: 139568358
20AGPAT2NM_ 006412.3(AGPAT2): c.418_ 420delTTC (p.Phe140del)deletionPathogenicrs387906356GRCh37Chr 9, 139571485: 139571487
21AGPAT2NM_ 006412.3(AGPAT2): c.643A> T (p.Lys215Ter)SNVPathogenicrs121908925GRCh37Chr 9, 139569205: 139569205
22AGPAT2NM_ 006412.3(AGPAT2): c.493-1G> CSNVPathogenicrs606231168GRCh38Chr 9, 136676681: 136676681
23AGPAT2NM_ 006412.3(AGPAT2): c.570C> A (p.Tyr190Ter)SNVPathogenicrs121908926GRCh37Chr 9, 139571055: 139571055
24AGPAT2NM_ 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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Pathways related to Lipodystrophy, Congenital Generalized, Type 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1AGPAT2, LMNA

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet