GCL
MCID: CNG095
MIFTS: 51

Congenital Generalized Lipodystrophy Type 2 (GCL) malady

Skin diseases, Endocrine diseases, Fetal diseases, Genetic diseases categories

Summaries for Congenital Generalized Lipodystrophy Type 2

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 diabetes mellitus and familial partial lipodystrophy, 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 EGFR1 Signaling Pathway. 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:46 269700,608594,612526

Aliases & Classifications for Congenital Generalized Lipodystrophy Type 2

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Sources:
48Orphanet, 42NIH Rare Diseases, 22GTR, 60UMLS, 20GeneTests, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
brunzell syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

congenital generalized lipodystrophy type 2 42 22 60
berardinelli seip congenital lipodystrophy type 2 42 20
brunzell syndrome 42 48
lipodystrophy, congenital generalized, type 2 46
berardinelli-seip congenital lipodystrophy 48
familial partial lipodystrophy, type 2 60
generalized congenital lipodystrophy 48
congenital lipoatrophic diabetes 42
beradinelli-seip syndrome 48
berardinelli syndrome 42
lipoatrophic diabetes 48
seip syndrome 42
bscl 48
gcl 48


External Ids:

ICD10 via Orphanet26 E88.1
SNOMED-CT via Orphanet57 127012008

Related Diseases for Congenital Generalized Lipodystrophy Type 2

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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 37)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus30.9BSCL2
2familial partial lipodystrophy30.8BSCL2, AGPAT2
3lipodystrophy30.7AGPAT2, BSCL2
4berardinelli-seip congenital lipodystrophy30.3BSCL2, AGPAT2
5hepatitis30.1CAV1
6acanthosis nigricans30.0BSCL2, AGPAT2
7lipoatrophic diabetes11.1
8congenital generalized lipodystrophy type 410.4
9congenital generalized lipodystrophy type 110.4
10skin disease10.3
11vascular disease10.3
12vascular skin disease10.3
13hyperglycemia10.2
14aredyld10.2
15lipodystrophy, familial partial, type 210.2
16congenital generalized lipodystrophy10.2
17krabbe disease10.2
18diabetic nephropathy10.1
19diabetic ketoacidosis10.1
20rickets10.1
21diabetic neuropathy10.1
22diabetic retinopathy10.1
23liver disease10.1
24neuropathy10.1
25pancreatitis10.1
26retinal degeneration10.1
27retinitis10.1
28acquired generalized lipodystrophy10.1
29periodontitis10.1
30congenital generalized lipodystrophy type 310.1
31hypertriglyceridemia10.0BSCL2
32distal hereditary motor neuropathy10.0AGPAT2
33pituitary tumors10.0CAV1
34osteosarcoma10.0FOS, CAV1
35t-cell leukemia10.0CAV1, FOS
36liver cirrhosis10.0FOS, CAV1
37insulin resistance10.0FOS, BSCL2, AGPAT2

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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

269700,608594,612526

Clinical synopsis from OMIM:

269700

Symptoms:

48 (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:
5CenterWatch, 41NIH 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

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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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32MalaCards
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MalaCards organs/tissues related to Congenital Generalized Lipodystrophy Type 2:

32
Skin, Liver, Bone, Tongue, Ovary

Animal Models for Congenital Generalized Lipodystrophy Type 2 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.0CAV1, BSCL2, AGPAT2
2MP:00053708.8AGPAT2, BSCL2, CAV1
3MP:00053818.8AGPAT2, BSCL2, CAV1
4MP:00053678.7CAV1, BSCL2, AGPAT2
5MP:00107718.2AGPAT2, BSCL2, FOS, CAV1
6MP:00053978.2AGPAT2, BSCL2, FOS, CAV1
7MP:00053868.1AGPAT2, BSCL2, FOS, CAV1
8MP:00053878.1CAV1, FOS, BSCL2, AGPAT2
9MP:00053788.1CAV1, FOS, BSCL2, AGPAT2
10MP:00053767.7AGPAT2, BSCL2, FOS, CAV1

Publications for Congenital Generalized Lipodystrophy Type 2

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Genetic Variations for Congenital Generalized Lipodystrophy Type 2

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Generalized Lipodystrophy Type 2:

62
id Symbol AA change Variation ID SNP ID
1BSCL2p.Ala212ProVAR_022377

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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1BioGPS, 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:
37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN
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Compounds for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank
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Compounds related to Congenital Generalized Lipodystrophy Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gp 130449.2FOS, CAV1
2cytochalasin d44 5910.1FOS, CAV1
3inositol 1,4,5 trisphosphate449.1FOS, CAV1
4egcg449.0CAV1, FOS
5carbachol44 28 1110.8FOS, 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, 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Generalized Lipodystrophy Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet