CGL2
MCID: LPD033
MIFTS: 33

Lipodystrophy, Congenital Generalized, Type 2 (CGL2) malady

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

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 2

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Aliases & Descriptions for Lipodystrophy, Congenital Generalized, Type 2:

Name: Lipodystrophy, Congenital Generalized, Type 2 52 12
Berardinelli-Seip Congenital Lipodystrophy Type 2 11 24 70
Total Lipodystrophy and Acromegaloid Gigantism 11 48 70
Congenital Generalized Lipodystrophy Type 2 11 48 68
Congenital Generalized Lipodystrophy 2 70 27
Congenital Lipoatrophic Diabetes 11 48
Brunzell Syndrome Bscl2-Related 11 70
Cgl2 11 70
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 24
Berardinelli Seip Congenital Lipodystrophy Type 2 48
Familial Partial Lipodystrophy, Type 2 68
 
Familial Generalized Lipodystrophy 68
Bscl2-Related Brunzell Syndrome 24
Lipodystrophy Berardinelli Type 70
Lipoatrophic Diabetes Mellitus 68
Berardinelli-Seip Syndrome 70
Berardinelli Syndrome 48
Lipoatrophic Diabetes 70
Brunzell Syndrome 48
Seip Syndrome 48
Bscl Type 2 24
Bscl2 24

Characteristics:

HPO:

64
lipodystrophy, congenital generalized, type 2:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: congenital onset

Classifications:



External Ids:

OMIM52 269700
Disease Ontology11 DOID:0111136
ICD1030 E88.1
MedGen37 C1720863
MeSH39 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 2

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OMIM:52 Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive... (269700) more...

MalaCards based summary: Lipodystrophy, Congenital Generalized, Type 2, also known as berardinelli-seip congenital lipodystrophy type 2, 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 2 is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated), and among its related pathways is Adipogenesis. Affiliated tissues include ovary, skin and bone, and related mouse phenotype adipose tissue.

Disease Ontology:11 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.

UniProtKB/Swiss-Prot:70 Congenital generalized lipodystrophy 2: 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 2

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Graphical network of diseases related to Lipodystrophy, Congenital Generalized, Type 2:



Diseases related to lipodystrophy, congenital generalized, type 2

Symptoms & Phenotypes for Lipodystrophy, Congenital Generalized, Type 2

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Symptoms by clinical synopsis from OMIM:

269700

Clinical features from OMIM:

269700

Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 2:

 64 (show all 30)
id Description HPO Frequency HPO Source Accession
1 labial hypertrophy64 HP:0000065
2 tall stature64 HP:0000098
3 decreased fertility64 HP:0000144
4 polycystic ovaries64 HP:0000147
5 mandibular prognathia64 HP:0000303
6 hyperinsulinemia64 HP:0000842
7 decreased fertility in females64 HP:0000868
8 insulin-resistant diabetes mellitus at puberty64 HP:0000877
9 acanthosis nigricans64 HP:0000956
10 hirsutism64 HP:0001007
11 large hands64 HP:0001176
12 intellectual disability, mild64 HP:0001256
13 cirrhosis64 HP:0001394
14 hepatic steatosis64 HP:0001397
15 umbilical hernia64 HP:0001537
16 prominent umbilicus64 HP:0001544
17 hypertrophic cardiomyopathy64 HP:0001639
18 acute pancreatitis64 HP:0001735
19 splenomegaly64 HP:0001744
20 long foot64 HP:0001833
21 hypertriglyceridemia64 HP:0002155
22 hepatomegaly64 HP:0002240
23 polyphagia64 HP:0002591
24 cystic angiomatosis of bone64 HP:0002833
25 decreased serum leptin64 HP:0003292
26 generalized muscular appearance from birth64 HP:0003716
27 reduced intrathoracic adipose tissue64 HP:0003809
28 accelerated skeletal maturation64 HP:0005616
29 clitoral hypertrophy64 HP:0008665
30 lipodystrophy64 HP:0009125

UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 2:


myalgia

MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1BSCL2, LMNA

Drugs & Therapeutics for Lipodystrophy, Congenital Generalized, Type 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 2

Genetic Tests for Lipodystrophy, Congenital Generalized, Type 2

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Genetic tests related to Lipodystrophy, Congenital Generalized, Type 2:

id Genetic test Affiliating Genes
1 Congenital Generalized Lipodystrophy Type 227
2 Berardinelli-Seip Congenital Lipodystrophy Type 224 BSCL2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

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MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 2:

36
Ovary, Skin, Bone

Publications for Lipodystrophy, Congenital Generalized, Type 2

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Variations for Lipodystrophy, Congenital Generalized, Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Congenital Generalized, Type 2:

70
id Symbol AA change Variation ID SNP ID
1BSCL2p.Ala212ProVAR_022377rs137852971

Clinvar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 2:

5 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1BSCL2NM_ 032667.6(BSCL2): c.793C> T (p.Arg265Ter)SNVPathogenicrs587777606GRCh38Chr 11, 62691300: 62691300
2BSCL2NM_ 032667.6(BSCL2): c.142C> T (p.Leu48Phe)SNVPathogenicrs1057517657GRCh38Chr 11, 62705371: 62705371
3BSCL2NM_ 032667.6(BSCL2): c.154_ 155dupTT (p.Tyr53Serfs)duplicationPathogenicrs1057517658GRCh38Chr 11, 62705358: 62705359
4BSCL2NM_ 032667.6(BSCL2): c.193delCinsGGA (p.Pro65Glyfs)indelPathogenicrs1057517659GRCh38Chr 11, 62705320: 62705320
5BSCL2NM_ 032667.6(BSCL2): c.574-2A> GSNVPathogenicrs1013079991GRCh38Chr 11, 62692475: 62692475
6BSCL2NM_ 032667.6(BSCL2): c.672-2A> CSNVPathogenicrs766061024GRCh38Chr 11, 62691423: 62691423
7BSCL2NM_ 032667.6(BSCL2): c.672-2A> GSNVPathogenicrs766061024GRCh38Chr 11, 62691423: 62691423
8BSCL2NM_ 032667.6(BSCL2): c.782dupG (p.Ile262Hisfs)duplicationPathogenicrs749890533GRCh38Chr 11, 62691311: 62691311
9BSCL2NM_ 032667.6(BSCL2): c.652_ 662delGCGCACTTCAC (p.Ala218Trpfs)deletionPathogenicGRCh38Chr 11, 62692385: 62692395
10BSCL2NM_ 032667.6(BSCL2): c.192_ 193delCCinsGGA (p.Ser64Argfs)indelPathogenicrs786205068GRCh38Chr 11, 62705320: 62705321
11BSCL2NM_ 032667.6(BSCL2): c.301_ 302insAA (p.Met101Lysfs)insertionPathogenicrs786205069GRCh38Chr 11, 62694704: 62694705
12BSCL2NM_ 032667.6(BSCL2): c.315_ 316delGT (p.Tyr106Serfs)deletionPathogenicrs786205070GRCh38Chr 11, 62694690: 62694691
13BSCL2BSCL2, 258-BP DEL/12-BP INSindelPathogenic
14BSCL2NM_ 032667.6(BSCL2): c.317_ 321delATCGT (p.Tyr106Cysfs)deletionPathogenicrs587777608GRCh38Chr 11, 62694685: 62694689
15BSCL2NM_ 032667.6(BSCL2): c.325dupA (p.Thr109Asnfs)duplicationPathogenicrs786205071GRCh38Chr 11, 62694681: 62694681
16BSCL2NM_ 032667.6(BSCL2): c.412C> T (p.Arg138Ter)SNVPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
17BSCL2BSCL2, IVS4, G-A, +1SNVPathogenic
18BSCL2NM_ 032667.6(BSCL2): c.634G> C (p.Ala212Pro)SNVPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
19BSCL2NM_ 032667.6(BSCL2): c.636delC (p.Tyr213Thrfs)deletionPathogenicrs758843908GRCh38Chr 11, 62692411: 62692411
20BSCL2NM_ 032667.6(BSCL2): c.671+5G> ASNVPathogenicrs786205072GRCh38Chr 11, 62692371: 62692371
21BSCL2NM_ 032667.6(BSCL2): c.672-3C> GSNVPathogenicrs786205073GRCh38Chr 11, 62691424: 62691424
22BSCL2NM_ 032667.6(BSCL2): c.823C> T (p.Arg275Ter)SNVPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
23BSCL2NM_ 032667.6(BSCL2): c.565G> T (p.Glu189Ter)SNVPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143

Expression for genes affiliated with Lipodystrophy, Congenital Generalized, Type 2

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Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 2.

Pathways for genes affiliated with Lipodystrophy, Congenital Generalized, Type 2

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Pathways related to Lipodystrophy, Congenital Generalized, Type 2 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1BSCL2, LMNA

GO Terms for genes affiliated with Lipodystrophy, Congenital Generalized, Type 2

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Sources for Lipodystrophy, Congenital Generalized, Type 2

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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