MCID: LPD033
MIFTS: 32

Lipodystrophy, Congenital Generalized, Type 2 malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Skin 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 24 70
Total Lipodystrophy and Acromegaloid Gigantism 48 70
Congenital Generalized Lipodystrophy Type 2 48 68
Congenital Generalized Lipodystrophy 2 70 27
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
Congenital Lipoatrophic Diabetes 48
Bscl2-Related Brunzell Syndrome 24
 
Brunzell Syndrome Bscl2-Related 70
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
Cgl2 70

Characteristics:

HPO:

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

Classifications:



External Ids:

OMIM52 269700
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 clitoral hypertrophy, 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 and bone, and related mouse phenotype adipose tissue.

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 the top 20 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 clitoral hypertrophy64 HP:0000057
2 labial hypertrophy64 HP:0000065
3 tall stature64 HP:0000098
4 decreased fertility64 HP:0000144
5 polycystic ovaries64 HP:0000147
6 mandibular prognathia64 HP:0000303
7 hyperinsulinemia64 HP:0000842
8 decreased fertility in females64 HP:0000868
9 insulin-resistant diabetes mellitus at puberty64 HP:0000877
10 acanthosis nigricans64 HP:0000956
11 hirsutism64 HP:0001007
12 large hands64 HP:0001176
13 intellectual disability, mild64 HP:0001256
14 cirrhosis64 HP:0001394
15 hepatic steatosis64 HP:0001397
16 umbilical hernia64 HP:0001537
17 prominent umbilicus64 HP:0001544
18 hypertrophic cardiomyopathy64 HP:0001639
19 acute pancreatitis64 HP:0001735
20 splenomegaly64 HP:0001744
21 long foot64 HP:0001833
22 hypertriglyceridemia64 HP:0002155
23 hepatomegaly64 HP:0002240
24 polyphagia64 HP:0002591
25 cystic angiomatosis of bone64 HP:0002833
26 decreased serum leptin64 HP:0003292
27 generalized muscular appearance from birth64 HP:0003716
28 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)64 HP:0003809
29 accelerated skeletal maturation64 HP:0005616
30 lipodystrophy64 HP:0009125

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


hepatomegaly, 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, 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 27)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.178C> G (p.Arg60Gly)SNVPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_170707.3(LMNA): c.1580G> C (p.Arg527Pro)SNVPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)SNVPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)SNVPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
5LMNANM_005572.3(LMNA): c.1444C> T (p.Arg482Trp)SNVPathogenicrs57920071GRCh37Chr 1, 156106775: 156106775
6LMNANM_170707.3(LMNA): c.1445G> T (p.Arg482Leu)SNVPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_170707.3(LMNA): c.1394G> A (p.Gly465Asp)SNVPathogenicrs61282106GRCh37Chr 1, 156106725: 156106725
8LMNANM_170707.3(LMNA): c.1745G> A (p.Arg582His)SNVPathogenicrs57830985GRCh37Chr 1, 156108325: 156108325
9LMNANM_170707.3(LMNA): c.688G> A (p.Asp230Asn)SNVPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
10LMNANM_170707.3(LMNA): c.1072G> A (p.Glu358Lys)SNVPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
11BSCL2NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs)indelPathogenicrs786205068GRCh38Chr 11, 62705320: 62705321
12BSCL2NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs)insertionPathogenicrs786205069GRCh38Chr 11, 62694704: 62694705
13BSCL2NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs)deletionPathogenicrs786205070GRCh38Chr 11, 62694690: 62694691
14BSCL2BSCL2, 258-BP DEL/12-BP INSindelPathogenicChr na, -1: -1
15BSCL2NM_001122955.3(BSCL2): c.509_513delATCGT (p.Tyr170Cysfs)deletionPathogenicrs587777608GRCh38Chr 11, 62694685: 62694689
16BSCL2NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs)duplicationPathogenicrs786205071GRCh38Chr 11, 62694681: 62694681
17BSCL2NM_001122955.3(BSCL2): c.604C> T (p.Arg202Ter)SNVPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
18BSCL2BSCL2, IVS4, G-A, +1SNVPathogenicChr na, -1: -1
19BSCL2NM_001122955.3(BSCL2): c.826G> C (p.Ala276Pro)SNVPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
20BSCL2NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs)deletionPathogenicrs758843908GRCh38Chr 11, 62692411: 62692411
21BSCL2NM_032667.6(BSCL2): c.671+5G> ASNVPathogenicrs786205072GRCh38Chr 11, 62692371: 62692371
22BSCL2NM_032667.6(BSCL2): c.672-3C> GSNVPathogenicrs786205073GRCh38Chr 11, 62691424: 62691424
23BSCL2NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)SNVPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
24BSCL2NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter)SNVPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143
25LMNANM_005572.3(LMNA): c.1458G> T (p.Lys486Asn)SNVPathogenicrs59981161GRCh37Chr 1, 156106789: 156106789
26LMNANM_170707.3(LMNA): c.1488+5G> CSNVPathogenicrs267607543GRCh37Chr 1, 156106824: 156106824
27LMNANM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs)duplicationPathogenicrs863225024GRCh37Chr 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 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