GCL
MCID: CNG095
MIFTS: 53

Congenital Generalized Lipodystrophy Type 2 (GCL) malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Congenital Generalized Lipodystrophy Type 2

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Congenital generalized lipodystrophy (also known as Berardinelli?Seip syndrome) is a very rare autosomal... more...

MalaCards: Congenital Generalized Lipodystrophy Type 2, also known as berardinelli seip congenital lipodystrophy type 2, is related to lipodystrophy and insulin resistance, and has symptoms including angor pectoris/myocardial infarction, pulmonary hypertension and pancreatitis. An important gene associated with Congenital Generalized Lipodystrophy Type 2 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)), and among its related pathways are Adipogenesis and G-Beta Gamma Signaling. The compounds gp 130 and cytochalasin d have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, and related mouse phenotypes are adipose tissue and liver/biliary system.

Description from OMIM:47 269700,608594,612526

Aliases & Classifications for Congenital Generalized Lipodystrophy Type 2

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49Orphanet, 43NIH Rare Diseases, 22GTR, 62UMLS, 20GeneTests, 47OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
brunzell syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital generalized lipodystrophy type 2 43 22 62
berardinelli seip congenital lipodystrophy type 2 43 20
brunzell syndrome 43 49
total lipodystrophy and acromegaloid gigantism 43
lipodystrophy, congenital generalized, type 2 47
berardinelli-seip congenital lipodystrophy 49
familial partial lipodystrophy, type 2 62
generalized congenital lipodystrophy 49
congenital lipoatrophic diabetes 43
beradinelli-seip syndrome 49
lipoatrophic diabetes 49
berardinelli syndrome 43
seip syndrome 43
bscl 49
gcl 49


External Ids:

ICD10 via Orphanet26 E88.1
UMLS via Orphanet63 C0011859
SNOMED-CT via Orphanet59 127012008

Related Diseases for Congenital Generalized Lipodystrophy Type 2

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Generalized Lipodystrophy Type 2 family:

Congenital Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 4 Congenital Generalized Lipodystrophy Type 3
Acquired Generalized Lipodystrophy

Diseases related to Congenital Generalized Lipodystrophy Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy30.9AGPAT2, BSCL2
2insulin resistance30.8AGPAT2, FOS, BSCL2
3berardinelli-seip congenital lipodystrophy30.4AGPAT2, BSCL2
4acanthosis nigricans30.2BSCL2, AGPAT2
5lipoatrophic diabetes11.1
6diabetes mellitus10.7
7congenital generalized lipodystrophy type 410.5
8congenital generalized lipodystrophy type 110.4
9aredyld10.4
10hyperglycemia10.3
11lipodystrophy, familial partial, type 210.3
12congenital generalized lipodystrophy10.3
13krabbe disease10.2
14endotheliitis10.2
15rickets10.1
16hepatitis10.1
17liver disease10.1
18neuropathy10.1
19pancreatitis10.1
20retinal degeneration10.1
21retinitis10.1
22ectodermal dysplasia10.1
23nonalcoholic steatohepatitis10.1
24hypertriglyceridemia10.1
25acquired generalized lipodystrophy10.1
26periodontitis10.1
27congenital generalized lipodystrophy type 310.1
28distal hereditary motor neuropathy10.1AGPAT2
29familial partial lipodystrophy10.0BSCL2, AGPAT2
30colon adenocarcinoma10.0CAV1, FOS
31cholera10.0CAV1, FOS
32fibrosarcoma10.0CAV1, FOS
33t-cell leukemia10.0CAV1, FOS
34liver cirrhosis10.0CAV1, FOS
35bladder carcinoma10.0CAV1, FOS
36hypertrophy of breast10.0CAV1, FOS
37lung cancer10.0CAV1, FOS
38prostate cancer9.9CAV1, FOS
39ovarian cancer9.9CAV1, FOS, AGPAT2

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



Diseases related to congenital generalized lipodystrophy type 2

Symptoms for Congenital Generalized Lipodystrophy Type 2

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

269700

Clinical features from OMIM:

269700,608594,612526

Symptoms:

49 (show all 45)
  • angor pectoris/myocardial infarction
  • pulmonary hypertension
  • pancreatitis
  • liver/hepatic steatosis
  • cirrhosis
  • anomalies of tongue, gingiva and oral mucosa
  • acromegaly
  • bone cyst
  • arterial stenosis/occlusion
  • renal disease/nephropathy
  • renal glomerular defect/glomerulopathy
  • early death/lethality
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • mutiple fractures/bone fragility
  • peripheral neuropathy
  • dilated cerebral ventricles without hydrocephaly
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • abnormal/polycystic ovaries
  • renal failure
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • precocious puberty
  • diabetes mellitus
  • hepatomegaly/liver enlargement (excluding storage disease)
  • storage liver disease
  • acanthosis nigricans
  • lipoatrophy
  • thick skin/pachydermia/orange skin
  • broad foot
  • foot anomalies
  • large hand
  • prognathism/prognathia
  • insulin resistance
  • hyperinsulinism/hyperinsulinemia
  • muscle hypertrophy
  • cardiomyopathy/hypertrophic/dilated
  • hepatocellular liver disease/hepatic failure
  • hirsutism/hypertrichosis/increased body hair
  • hair and scalp anomalies
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • hyperhidrosis/increased sweating
  • abnormal fat distribution/lipodystrophy
  • autosomal recessive inheritance
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • advanced bone age
  • prominent supraorbital ridge

Drugs & Therapeutics for Congenital Generalized Lipodystrophy Type 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Congenital Generalized Lipodystrophy Type 2

Search NIH Clinical Center for Congenital Generalized Lipodystrophy Type 2

Genetic Tests for Congenital Generalized Lipodystrophy Type 2

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20GeneTests, 22GTR
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Genetic tests related to Congenital Generalized Lipodystrophy Type 2:

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy Type 220 BSCL2
2 Congenital Generalized Lipodystrophy Type 222

Anatomical Context for Congenital Generalized Lipodystrophy Type 2

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33MalaCards
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MalaCards organs/tissues related to Congenital Generalized Lipodystrophy Type 2:

33
Skin, Liver, Bone, Tongue, Ovary

Animal Models for Congenital Generalized Lipodystrophy Type 2 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy Type 2:

37 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.8BSCL2, AGPAT2, CAV1
2MP:00053708.7AGPAT2, CAV1, BSCL2
3MP:00053678.6AGPAT2, BSCL2, CAV1
4MP:00053898.6BSCL2, FOS, CAV1
5MP:00053818.6CAV1, BSCL2, AGPAT2
6MP:00053798.4AGPAT2, CAV1, FOS
7MP:00107718.3AGPAT2, BSCL2, CAV1, FOS
8MP:00053978.3AGPAT2, CAV1, BSCL2, FOS
9MP:00053868.2AGPAT2, FOS, BSCL2, CAV1
10MP:00053908.2AGPAT2, CAV1, FOS
11MP:00053878.2FOS, BSCL2, AGPAT2, CAV1
12MP:00053788.2FOS, AGPAT2, CAV1, BSCL2
13MP:00053768.2FOS, CAV1, AGPAT2, BSCL2
14MP:00107688.0AGPAT2, CAV1, FOS, BSCL2

Publications for Congenital Generalized Lipodystrophy Type 2

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Variations for Congenital Generalized Lipodystrophy Type 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Generalized Lipodystrophy Type 2:

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

Clinvar genetic disease variations for Congenital Generalized Lipodystrophy Type 2:

1 (show all 25)
id Gene Name Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.178C> G (p.Arg60Gly)single nucleotide variantPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_005572.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_005572.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_005572.3(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_005572.3(LMNA): c.1445G> T (p.Arg482Leu)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_005572.3(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 variantPathogenic, Uncertain significancers60890628GRCh37Chr 1, 156108298: 156108298
10LMNANM_005572.3(LMNA): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
11LMNANM_005572.3(LMNA): c.1195C> T (p.Arg399Cys)single nucleotide variantPathogenicrs58672172GRCh37Chr 1, 156106042: 156106042
12BSCL2BSCL2, 2-BP DEL/3-BP INS, NT536indelPathogenic
13BSCL2BSCL2, 2-BP INS, 645AAinsertionPathogenic
14BSCL2BSCL2, 2-BP DEL, 659GTdeletionPathogenic
15BSCL2BSCL2, 258-BP DEL/12-BP INSindelPathogenic
16BSCL2BSCL2, 5-BP DEL, NT659deletionPathogenic
17BSCL2BSCL2, 1-BP INS, 669AinsertionPathogenic
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
21BSCL2BSCL2, 1-BP DEL, 980CdeletionPathogenic
22BSCL2BSCL2, IVS6, G-A, +5single nucleotide variantPathogenic
23BSCL2BSCL2, IVS6, C-G, -3single nucleotide variantPathogenic
24NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
25NM_001122955.3(BSCL2): c.757G> T (p.Glu253Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Generalized Lipodystrophy Type 2

Search GEO for disease gene expression data for Congenital Generalized Lipodystrophy Type 2.

Pathways for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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Sources:
50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG, 60Thomson Reuters, 55Reactome
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Pathways related to Congenital Generalized Lipodystrophy Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3AGPAT2, BSCL2
2
Show member pathways
9.1FOS, CAV1
3
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.1FOS, CAV1
4
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
9.1CAV1, FOS
59.1FOS, CAV1
6
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.1FOS, CAV1
79.1FOS, CAV1
89.1FOS, CAV1

Compounds for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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Sources:
45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 51PharmGKB
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Compounds related to Congenital Generalized Lipodystrophy Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gp 130459.3FOS, CAV1
2cytochalasin d45 6110.3CAV1, FOS
3egcg459.3FOS, CAV1
4carbachol45 29 1111.2FOS, CAV1
5inositol 1,4,5 trisphosphate459.2FOS, CAV1
6okadaic acid45 6110.1CAV1, FOS
7tamoxifen45 51 29 1112.1FOS, CAV1
8agar459.0FOS, CAV1
9phosphotyrosine458.8FOS, CAV1

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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16Gene Ontology
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Cellular components related to Congenital Generalized Lipodystrophy Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057838.5AGPAT2, CAV1, FOS

Biological processes related to Congenital Generalized Lipodystrophy Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to progesteroneGO:0325709.1CAV1, FOS
2lipid storageGO:0199158.8CAV1, BSCL2

Products for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Generalized Lipodystrophy Type 2

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet