MCID: LPD033
MIFTS: 35

Lipodystrophy, Congenital Generalized, Type 2 malady

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

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 49 11
Congenital Generalized Lipodystrophy Type 2 45 24 65
Berardinelli Seip Congenital Lipodystrophy Type 2 45 22
Total Lipodystrophy and Acromegaloid Gigantism 45 67
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 22
Berardinelli-Seip Congenital Lipodystrophy Type 2 67
Congenital Generalized Lipodystrophy 2 67
Familial Partial Lipodystrophy, Type 2 65
Familial Generalized Lipodystrophy 65
Congenital Lipoatrophic Diabetes 45
Brunzell Syndrome Bscl2-Related 67
 
Lipodystrophy Berardinelli Type 67
Bscl2-Related Brunzell Syndrome 22
Lipoatrophic Diabetes Mellitus 65
Berardinelli-Seip Syndrome 67
Lipoatrophic Diabetes 67
Berardinelli Syndrome 45
Brunzell Syndrome 45
Seip Syndrome 45
Bscl Type 2 22
Bscl2 22
Cgl2 67


Classifications:



External Ids:

OMIM49 269700
MedGen34 C1720863
MeSH36 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 2

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OMIM:49 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 congenital generalized lipodystrophy type 2, is related to lipodystrophy, familial partial, 2 and neuropathy, and has symptoms including autosomal recessive inheritance, clitoromegaly and labial hypertrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 2 is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)), and among its related pathways is Adipogenesis. Affiliated tissues include bone, ovary and skin, and related mouse phenotype adipose tissue.

UniProtKB/Swiss-Prot:67 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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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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, familial partial, 210.6
2neuropathy10.5
3aredyld10.5
4distal hereditary motor neuropathy10.4
5acquired generalized lipodystrophy10.4
6severe neurodegenerative syndrome with lipodystrophy10.3
7hyperglycemia10.3
8lipodystrophy, congenital generalized, type 110.3
9berardinelli-seip congenital lipodystrophy10.3
10congenital generalized lipodystrophy10.3
11lipodystrophy10.3
12encephalopathy, progressive, with or without lipodystrophy10.3
13charcot-marie-tooth disease, type 2e10.2
14distal hereditary motor neuropathy type v10.2
15hypertriglyceridemia10.2
16ectodermal dysplasia10.2
17hepatitis10.2
18liver disease10.2
19rickets10.2
20pancreatitis10.2
21retinal degeneration10.2
22retinitis10.2
23nonalcoholic steatohepatitis10.2
24lipodystrophy, congenital generalized, type 310.1
25acanthosis nigricans10.1
26periodontitis10.1
27prostate cancer10.0
28neuropathy, distal hereditary motor, type va10.0
29silver spastic paraplegia syndrome10.0
30osteoarthritis10.0
31spastic paraplegia 1710.0
32charcot-marie-tooth neuropathy10.0
33lipodystrophy, congenital generalized, type 29.9BSCL2, LMNA
34mandibuloacral dysplasia9.9BSCL2, LMNA
35best vitelliform macular dystrophy9.8BSCL2, LMNA
36gummatous syphilis9.8BSCL2, LMNA
37diabetes mellitus, noninsulin-dependent9.8BSCL2, LMNA
38periventricular nodular heterotopia9.8BSCL2, LMNA
39lipomatosis9.7BSCL2, LMNA

Graphical network of the top 20 diseases related to Lipodystrophy, Congenital Generalized, Type 2:



Diseases related to lipodystrophy, congenital generalized, type 2

Symptoms for Lipodystrophy, Congenital Generalized, Type 2

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Symptoms by clinical synopsis from OMIM:

269700

Clinical features from OMIM:

269700

HPO human phenotypes related to Lipodystrophy, Congenital Generalized, Type 2:

(show all 32)
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 decreased fertility HP:0000144
6 polycystic ovaries HP:0000147
7 mandibular prognathia HP:0000303
8 hyperinsulinemia HP:0000842
9 decreased fertility in females HP:0000868
10 insulin-resistant diabetes mellitus at puberty HP:0000877
11 acanthosis nigricans HP:0000956
12 hirsutism HP:0001007
13 large hands HP:0001176
14 intellectual disability, mild HP:0001256
15 cirrhosis HP:0001394
16 hepatic steatosis HP:0001397
17 umbilical hernia HP:0001537
18 prominent umbilicus HP:0001544
19 hypertrophic cardiomyopathy HP:0001639
20 acute pancreatitis HP:0001735
21 splenomegaly HP:0001744
22 long foot HP:0001833
23 hypertriglyceridemia HP:0002155
24 hepatomegaly HP:0002240
25 polyphagia HP:0002591
26 cystic angiomatosis of bone HP:0002833
27 decreased serum leptin HP:0003292
28 congenital onset HP:0003577
29 generalized muscular appearance from birth HP:0003716
30 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0003809
31 accelerated skeletal maturation HP:0005616
32 lipodystrophy HP:0009125

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 Berardinelli-Seip Congenital Lipodystrophy Type 222 BSCL2
2 Congenital Generalized Lipodystrophy Type 224

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

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

33
Bone, Ovary, Skin

Animal Models for Lipodystrophy, Congenital Generalized, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1BSCL2, LMNA

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:

67
id Symbol AA change Variation ID SNP ID
1BSCL2p.Ala212ProVAR_022377

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

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.178C> G (p.Arg60Gly)single nucleotide variantPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_170707.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
5LMNANM_005572.3(LMNA): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs57920071GRCh37Chr 1, 156106775: 156106775
6LMNANM_170707.3(LMNA): c.1445G> T (p.Arg482Leu)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_170707.3(LMNA): c.1394G> A (p.Gly465Asp)single nucleotide variantPathogenicrs61282106GRCh37Chr 1, 156106725: 156106725
8LMNANM_170707.3(LMNA): c.1745G> A (p.Arg582His)single nucleotide variantPathogenicrs57830985GRCh37Chr 1, 156108325: 156108325
9LMNANM_170707.3(LMNA): c.1718C> T (p.Ser573Leu)single nucleotide variantPathogenicrs60890628GRCh37Chr 1, 156108298: 156108298
10LMNANM_170707.3(LMNA): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
11LMNANM_170707.3(LMNA): c.1195C> T (p.Arg399Cys)single nucleotide variantLikely pathogenic, Pathogenicrs58672172GRCh37Chr 1, 156106042: 156106042
12NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs)indelPathogenicrs786205068GRCh38Chr 11, 62705320: 62705321
13NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs)insertionPathogenicrs786205069GRCh38Chr 11, 62694704: 62694705
14NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs)deletionPathogenicrs786205070GRCh38Chr 11, 62694690: 62694691
15BSCL2BSCL2, 258-BP DEL/12-BP INSindelPathogenic
16NM_001122955.3(BSCL2): c.509_513delATCGT (p.Tyr170Cysfs)deletionPathogenicrs587777608GRCh38Chr 11, 62694685: 62694689
17NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs)duplicationPathogenicrs786205071GRCh38Chr 11, 62694681: 62694681
18NM_001122955.3(BSCL2): c.604C> T (p.Arg202Ter)single nucleotide variantPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
19BSCL2BSCL2, IVS4, G-A, +1single nucleotide variantPathogenic
20NM_001122955.3(BSCL2): c.826G> C (p.Ala276Pro)single nucleotide variantPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
21NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs)deletionPathogenicrs758843908GRCh38Chr 11, 62692411: 62692411
22NM_032667.6(BSCL2): c.671+5G> Asingle nucleotide variantPathogenicrs786205072GRCh38Chr 11, 62692371: 62692371
23NM_032667.6(BSCL2): c.672-3C> Gsingle nucleotide variantPathogenicrs786205073GRCh38Chr 11, 62691424: 62691424
24NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
25NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143
26LMNANM_005572.3(LMNA): c.1458G> T (p.Lys486Asn)single nucleotide variantPathogenicrs59981161GRCh37Chr 1, 156106789: 156106789
27LMNANM_170707.3(LMNA): c.1488+5G> Csingle nucleotide variantPathogenicrs267607543GRCh37Chr 1, 156106824: 156106824
28LMNANM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs)duplicationPathogenicGRCh37Chr 1, 156108541: 156108541

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 pathways (with members indented)ScoreTop 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
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