MCID: LPD033
MIFTS: 33

Lipodystrophy, Congenital Generalized, Type 2 malady

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

Summaries for Lipodystrophy, Congenital Generalized, Type 2

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OMIM:47 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 berardinelli-seip congenital lipodystrophy and lipodystrophy, congenital generalized, type 1, 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)). Affiliated tissues include bone and ovary.

Aliases & Classifications for Lipodystrophy, Congenital Generalized, Type 2

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

Name: Lipodystrophy, Congenital Generalized, Type 2 47 11
Berardinelli Seip Congenital Lipodystrophy Type 2 43 22
Congenital Generalized Lipodystrophy Type 2 43 24
Total Lipodystrophy and Acromegaloid Gigantism 43
Berardinelli-Seip Congenital Lipodystrophy 43
Generalized Congenital Lipodystrophy 43
Congenital Lipoatrophic Diabetes 43
 
Beradinelli-Seip Syndrome 43
Lipoatrophic Diabetes 43
Berardinelli Syndrome 43
Brunzell Syndrome 43
Seip Syndrome 43
Bscl 43
Gcl 43


Classifications:



External Ids:

OMIM47 269700

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 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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Drug clinical trials:

Search ClinicalTrials for Lipodystrophy, Congenital Generalized, Type 2

Search 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

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:

64
id Symbol AA change Variation ID SNP ID
1BSCL2p.Ala212ProVAR_022377

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

7 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1BSCL2BSCL2, 2-BP DEL/3-BP INS, NT536indelPathogenic
2BSCL2BSCL2, 2-BP INS, 645AAinsertionPathogenic
3BSCL2BSCL2, 2-BP DEL, 659GTdeletionPathogenic
4BSCL2BSCL2, 258-BP DEL/12-BP INSindelPathogenic
5BSCL2BSCL2, 5-BP DEL, NT659deletionPathogenic
6BSCL2BSCL2, 1-BP INS, 669AinsertionPathogenic
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
10BSCL2BSCL2, 1-BP DEL, 980CdeletionPathogenic
11BSCL2BSCL2, IVS6, G-A, +5single nucleotide variantPathogenic
12BSCL2BSCL2, IVS6, C-G, -3single nucleotide variantPathogenic
13NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
14NM_001122955.3(BSCL2): c.757G> T (p.Glu253Ter)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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Compounds 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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Products for genes affiliated with Lipodystrophy, Congenital Generalized, Type 2

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Sources for Lipodystrophy, Congenital Generalized, Type 2

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet