MCID: BRR012
MIFTS: 30

Berardinelli-Seip Congenital Lipodystrophy malady

Category: Genetic diseases (common)

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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Aliases & Descriptions for Berardinelli-Seip Congenital Lipodystrophy:

Name: Berardinelli-Seip Congenital Lipodystrophy 21 22 24
Berardinelli-Seip Congenital Generalized Lipodystrophy 21 22
 
Congenital Generalized Lipodystrophy 21
Familial Generalized Lipodystrophy 65

Classifications:



External Ids:

UMLS65 C0221032

Summaries for Berardinelli-Seip Congenital Lipodystrophy

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MalaCards based summary: Berardinelli-Seip Congenital Lipodystrophy, also known as berardinelli-seip congenital generalized lipodystrophy, is related to congenital generalized lipodystrophy and lipodystrophy, congenital generalized, type 1. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)), and among its related pathways are Signaling events mediated by PTP1B and Adipogenesis. Affiliated tissues include breast, eye and heart, and related mouse phenotypes are endocrine/exocrine gland and liver/biliary system.

GeneReviews summary for NBK1212

Related Diseases for Berardinelli-Seip Congenital Lipodystrophy

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Graphical network of the top 20 diseases related to Berardinelli-Seip Congenital Lipodystrophy:



Diseases related to berardinelli-seip congenital lipodystrophy

Symptoms for Berardinelli-Seip Congenital Lipodystrophy

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Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

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Drugs for Berardinelli-Seip Congenital Lipodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Contraceptives, OralPhase 2, Phase 33734
2Insulin, Globin ZincPhase 2, Phase 34278
3insulinPhase 2, Phase 34278
4
chenodeoxycholic acidapprovedPhase 225474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
5LaxativesPhase 2344
6CatharticsPhase 2344
7Gastrointestinal AgentsPhase 26401

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Leptin Replacement Therapy in Patients With LipodystrophyCompletedNCT00896298Phase 2, Phase 3
2Compassionate Use of Metreleptin in Previously Treated People With Generalized LipodystrophyEnrolling by invitationNCT02262832Phase 3
3Compassionate Use of Metreleptin in Previously Treated People With Partial LipodystrophyEnrolling by invitationNCT02262806Phase 3
4Leptin to Treat LipodystrophyCompletedNCT00025883Phase 2
5Expanded Access Metreleptin StudyEnrolling by invitationNCT02404896Phase 2
6Phase 2 Study of Obeticholic Acid for Lipodystrophy PatientsNot yet recruitingNCT02430077Phase 2
7Lipodystrophy Connect Patient RegistryRecruitingNCT02577952
8Post Authorisation Safety Registry for US Patients With Generalised Lipodystrophy Treated With MetreleptinNot yet recruitingNCT02325674

Search NIH Clinical Center for Berardinelli-Seip Congenital Lipodystrophy

Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

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Genetic tests related to Berardinelli-Seip Congenital Lipodystrophy:

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy22 BSCL2

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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MalaCards organs/tissues related to Berardinelli-Seip Congenital Lipodystrophy:

33
Breast, Eye, Heart, Brain, Kidney, Lung, Myeloid

Animal Models for Berardinelli-Seip Congenital Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.3AGPAT2, BSCL2, CAV1, LEP
2MP:00053708.3AGPAT2, BSCL2, CAV1, LEP
3MP:00107718.2AGPAT2, BSCL2, CAV1, LEP
4MP:00053818.2AGPAT2, BSCL2, CAV1, LEP
5MP:00053678.1AGPAT2, BSCL2, CAV1, LEP
6MP:00053758.1AGPAT2, BSCL2, CAV1, LEP
7MP:00053978.1AGPAT2, BSCL2, CAV1, LEP

Publications for Berardinelli-Seip Congenital Lipodystrophy

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Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 27)
idTitleAuthorsYear
1
MicroRNAs expression profiling of eutopic proliferative endometrium in women with ovarian endometriosis. (23945042)
2013
2
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. (24198383)
2013
32012
4
Grading of clear cell renal cell carcinoma should be based on nucleolar prominence. (21716085)
2011
5
Aberrant expression of miR-203 and its clinical significance in gastric and colorectal cancers. (21063914)
2011
6
Coronary heart disease risk profile in women who underwent salpingo-oophorectomy to prevent hereditary breast ovarian cancer. (20169665)
2010
7
Nephrogenic systemic fibrosis in advanced chronic kidney disease: a single hospital's experience in Taiwan. (19059824)
2009
8
Anti-inflammatory effect of a human prothrombin fragment-2-derived peptide, NSA9, in EOC2 microglia. (18261978)
2008
9
Post-prandial iron absorption in humans: comparison between HFE genotypes and iron deficiency anaemia. (18276042)
2008
10
MMP-7 is involved in the aging of primary human mammary epithelial cells (HMEC). (18207346)
2008
11
TLR2 expression in relation to IL-6 and IL-1beta and their natural regulators production by PMN and PBMC in patients with Lyme disease. (16864901)
2006
12
Characteristics of Chinese patients with Wegener's granulomatosis with anti-myeloperoxidase autoantibodies. (16221222)
2005
13
Myostatin signaling through Smad2, Smad3 and Smad4 is regulated by the inhibitory Smad7 by a negative feedback mechanism. (15183844)
2004
14
Cure of hepatoblastoma with transcatheter arterial chemoembolization. (14707717)
2004
15
Attenuated nuclear shrinkage in neurones with nuclear inclusions of SCA1 brains. (12700301)
2003
16
Homology modelling of human CYP2 family enzymes based on the CYP2C5 crystal structure. (12028664)
2002
17
Evidence of increased angiogenesis in patients with acute myeloid leukemia. (10607717)
2000
18
Expression of CD44 variants in lung cancer and its relationship to hyaluronan binding. (10898120)
2000
19
The relationship between polymorphism of angiotensinogen gene and essential hypertension]. (11860821)
2000
20
Frequent loss of heterozygosity at 1p36 in ovarian adenocarcinomas but the gene encoding p73 is unlikely to be the target. (10467409)
1999
21
Proton magnetic resonance spectroscopic imaging in patients with extratemporal epilepsy. (9578043)
1998
22
Activity of type IV collagenases in benign and malignant breast disease. (8494711)
1993
23
Regulation of Langerhans cell function by nerves containing calcitonin gene-related peptide. (8483499)
1993
24
Case report 693: Schneckenbecken dysplasia. (1754916)
1991
25
CT evaluation of adult epiglottitis. (2778147)
1989
26
Destructive noninfectious spondyloarthropathy in hemodialysis patients: a report of four cases. (3786769)
1987
27
Ischaemia of the Retinal Vessels of both Eyes, following Facial Erysipelas. (16691757)
1879

Variations for Berardinelli-Seip Congenital Lipodystrophy

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Expression for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Search GEO for disease gene expression data for Berardinelli-Seip Congenital Lipodystrophy.

Pathways for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Pathways related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0CAV1, LEP
28.7AGPAT2, BSCL2, LEP

GO Terms for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Biological processes related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cytokine productionGO:00018199.3AGPAT2, LEP
2response to nutrientGO:00075849.0CAV1, LEP
3response to hypoxiaGO:00016669.0CAV1, LEP

Sources for Berardinelli-Seip Congenital Lipodystrophy

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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