GCL
MCID: CNG095
MIFTS: 42

Congenital Generalized Lipodystrophy Type 2 (GCL) malady

Skin, Endocrine, Fetal, Genetic categories

Summaries for Congenital Generalized Lipodystrophy Type 2

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is a very rare... more...

MalaCards: Congenital Generalized Lipodystrophy Type 2, also known as berardinelli seip congenital lipodystrophy type 2, is related to familial partial lipodystrophy and insulin resistance, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and hyperhidrosis/increased sweating. 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 EGFR1 Signaling Pathway. The compounds gp 130 and cytochalasin d have been mentioned in the context of this disorder. Affiliated tissues include skin, 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

Sources:
49Orphanet, 43NIH Rare Diseases, 22GTR, 61UMLS, 20GeneTests, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Skin, Endocrine


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 61
berardinelli seip congenital lipodystrophy type 2 43 20
brunzell syndrome 43 49
lipodystrophy, congenital generalized, type 2 47
berardinelli-seip congenital lipodystrophy 49
familial partial lipodystrophy, type 2 61
generalized congenital lipodystrophy 49
congenital lipoatrophic diabetes 43
beradinelli-seip syndrome 49
berardinelli syndrome 43
lipoatrophic diabetes 49
seip syndrome 43
bscl 49
gcl 49


External Ids:

ICD10 via Orphanet26 E88.1

Related Diseases for Congenital Generalized Lipodystrophy Type 2

Sources:
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 36)
idRelated DiseaseScoreTop Affiliating Genes
1familial partial lipodystrophy30.8AGPAT2, BSCL2
2insulin resistance30.7AGPAT2, BSCL2, FOS
3berardinelli-seip congenital lipodystrophy30.3AGPAT2, BSCL2
4hypertriglyceridemia30.1BSCL2
5acanthosis nigricans30.1AGPAT2, BSCL2
6lipoatrophic diabetes11.1
7congenital generalized lipodystrophy type 410.5
8adiponectin deficiency10.5
9congenital generalized lipodystrophy type 110.4
10aredyld10.4
11lipodystrophy, familial partial, type 210.3
12lip disease10.3
13vascular disease10.3
14vascular skin disease10.3
15atypical lipodystrophy10.3
16sleep apnea10.3
17congenital generalized lipodystrophy10.3
18n syndrome10.2
19krabbe disease10.2
20rickets10.1
21conn's syndrome10.1
22ectodermal dysplasia10.1
23nonalcoholic steatohepatitis10.1
24late-onset retinal degeneration10.1
25acrorenal syndrome10.1
26acquired generalized lipodystrophy10.1
27congenital generalized lipodystrophy type 310.1
28germ cell cancer10.0
29hepatitis10.0CAV1
30distal hereditary motor neuropathy10.0AGPAT2
31diabetes mellitus10.0BSCL2
32pituitary tumors10.0CAV1
33lipodystrophy10.0BSCL2, AGPAT2
34osteosarcoma10.0FOS, CAV1
35t-cell leukemia10.0FOS, CAV1
36liver cirrhosis10.0FOS, CAV1

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



Diseases related to congenital generalized lipodystrophy type 2

Clinical Features for Congenital Generalized Lipodystrophy Type 2

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

269700,608594,612526

Clinical synopsis from OMIM:

269700

Symptoms:

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

Drugs & Therapeutics for Congenital Generalized Lipodystrophy Type 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Congenital Generalized Lipodystrophy Type 2

Drug clinical trials:

Search ClinicalTrials for Congenital Generalized Lipodystrophy Type 2

Search NIH Clinical Center for Congenital Generalized Lipodystrophy Type 2

Search CenterWatch for Congenital Generalized Lipodystrophy Type 2

Genetic Tests for Congenital Generalized Lipodystrophy Type 2

Sources:
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

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

33
Skin

Animal Models for Congenital Generalized Lipodystrophy Type 2 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Congenital Generalized Lipodystrophy Type 2

Genetic Variations for Congenital Generalized Lipodystrophy Type 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Generalized Lipodystrophy Type 2:

63
id Symbol AA change Variation SNP ID
1BSCL2p.Ala212ProVAR_022377

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN
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Compounds for genes affiliated with Congenital Generalized Lipodystrophy Type 2

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank
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Compounds related to Congenital Generalized Lipodystrophy Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gp 130459.2FOS, CAV1
2cytochalasin d45 6010.1FOS, CAV1
3inositol 1,4,5 trisphosphate459.1FOS, CAV1
4egcg459.0CAV1, FOS
5carbachol45 29 1110.8FOS, CAV1

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy Type 2

Sources:
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, FOS, CAV1

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

idNameGO IDScoreTop Affiliating Genes
1lipid storageGO:0199159.1BSCL2, CAV1
2response to progesterone stimulusGO:0325709.1FOS, CAV1

Products for genes affiliated with Congenital Generalized Lipodystrophy Type 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Generalized Lipodystrophy Type 2

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet