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 50 12
Berardinelli-Seip Congenital Lipodystrophy Type 2 23 68
Total Lipodystrophy and Acromegaloid Gigantism 46 68
Congenital Generalized Lipodystrophy Type 2 46 66
Congenital Generalized Lipodystrophy 2 68 25
Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 23
Berardinelli Seip Congenital Lipodystrophy Type 2 46
Familial Generalized Lipodystrophy 66
Congenital Lipoatrophic Diabetes 46
Bscl2-Related Brunzell Syndrome 23
 
Lipodystrophy Berardinelli Type 68
Brunzell Syndrome Bscl2-Related 68
Berardinelli-Seip Syndrome 68
Lipoatrophic Diabetes 68
Berardinelli Syndrome 46
Brunzell Syndrome 46
Seip Syndrome 46
Bscl Type 2 23
Bscl2 23
Cgl2 68

Characteristics:

HPO:

62
lipodystrophy, congenital generalized, type 2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset


Classifications:



External Ids:

OMIM50 269700
MedGen35 C1720863
MeSH37 D052497

Summaries for Lipodystrophy, Congenital Generalized, Type 2

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OMIM:50 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 encephalopathy, progressive, with or without lipodystrophy and aredyld, and has symptoms including hepatomegaly, hepatomegaly and clitoral hypertrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 2 is BSCL2 (BSCL2, Seipin Lipid Droplet Biogenesis Associated). Affiliated tissues include ovary and bone.

UniProtKB/Swiss-Prot:68 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 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 30)
id Description Frequency HPO Source Accession
1 clitoral hypertrophy HP:0000057
2 labial hypertrophy HP:0000065
3 tall stature HP:0000098
4 decreased fertility HP:0000144
5 polycystic ovaries HP:0000147
6 mandibular prognathia HP:0000303
7 hyperinsulinemia HP:0000842
8 decreased fertility in females HP:0000868
9 insulin-resistant diabetes mellitus at puberty HP:0000877
10 acanthosis nigricans HP:0000956
11 hirsutism HP:0001007
12 large hands HP:0001176
13 intellectual disability, mild HP:0001256
14 cirrhosis HP:0001394
15 hepatic steatosis HP:0001397
16 umbilical hernia HP:0001537
17 prominent umbilicus HP:0001544
18 hypertrophic cardiomyopathy HP:0001639
19 acute pancreatitis HP:0001735
20 splenomegaly HP:0001744
21 long foot HP:0001833
22 hypertriglyceridemia HP:0002155
23 hepatomegaly HP:0002240
24 polyphagia HP:0002591
25 cystic angiomatosis of bone HP:0002833
26 decreased serum leptin HP:0003292
27 generalized muscular appearance from birth HP:0003716
28 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0003809
29 accelerated skeletal maturation HP:0005616
30 lipodystrophy HP:0009125

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


hepatomegaly

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 225
2 Berardinelli-Seip Congenital Lipodystrophy Type 223 BSCL2

Anatomical Context for Lipodystrophy, Congenital Generalized, Type 2

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

34
Ovary, Bone

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

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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:

68
id Symbol AA change Variation ID SNP ID
1BSCL2p.Ala212ProVAR_022377rs137852971

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

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs)indelPathogenicrs786205068GRCh38Chr 11, 62705320: 62705321
2NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs)insertionPathogenicrs786205069GRCh38Chr 11, 62694704: 62694705
3NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs)deletionPathogenicrs786205070GRCh38Chr 11, 62694690: 62694691
4BSCL2BSCL2, 258-BP DEL/12-BP INSindelPathogenic
5NM_001122955.3(BSCL2): c.509_513delATCGT (p.Tyr170Cysfs)deletionPathogenicrs587777608GRCh38Chr 11, 62694685: 62694689
6NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs)duplicationPathogenicrs786205071GRCh38Chr 11, 62694681: 62694681
7NM_001122955.3(BSCL2): c.604C> T (p.Arg202Ter)single nucleotide variantPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
8BSCL2BSCL2, IVS4, G-A, +1single nucleotide variantPathogenic
9NM_001122955.3(BSCL2): c.826G> C (p.Ala276Pro)single nucleotide variantPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
10NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs)deletionPathogenicrs758843908GRCh38Chr 11, 62692411: 62692411
11NM_032667.6(BSCL2): c.671+5G> Asingle nucleotide variantPathogenicrs786205072GRCh38Chr 11, 62692371: 62692371
12NM_032667.6(BSCL2): c.672-3C> Gsingle nucleotide variantPathogenicrs786205073GRCh38Chr 11, 62691424: 62691424
13NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
14NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 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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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
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