GCL
MCID: CNG095
MIFTS: 58

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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Wikipedia:65 Congenital generalized lipodystrophy (also known as Berardinelli?Seip syndrome) is a very rare autosomal... more...

MalaCards based summary: Congenital Generalized Lipodystrophy Type 2, also known as berardinelli seip congenital lipodystrophy type 2, is related to berardinelli-seip congenital lipodystrophy and lipodystrophy, and has symptoms including prominent supraorbital ridge, prognathism/prognathia and large hand. An important gene associated with Congenital Generalized Lipodystrophy Type 2 is BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)), and among its related pathways are Osteoclast differentiation and TGF-beta Signaling Pathways. The compounds Isovaleryl-CoA and Lauroyl-CoA 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.

Descriptions from OMIM:46 269700,608594,612526

Aliases & Classifications for Congenital Generalized Lipodystrophy Type 2

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Sources:
48Orphanet, 62UMLS, 42NIH Rare Diseases, 22GTR, 20GeneTests, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Congenital Generalized Lipodystrophy Type 2, Aliases & Descriptions:

Name: Congenital Generalized Lipodystrophy Type 2 42 22 62
Berardinelli Seip Congenital Lipodystrophy Type 2 42 20
Berardinelli-Seip Congenital Lipodystrophy 48 62
Lipoatrophic Diabetes 48 62
Brunzell Syndrome 42 48
Berardinelli-Seip Congenital Lipodystrophy Type 2 62
Total Lipodystrophy and Acromegaloid Gigantism 42
Lipodystrophy, Congenital Generalized, Type 2 46
 
Generalized Congenital Lipodystrophy 48
Congenital Lipoatrophic Diabetes 42
Beradinelli-Seip Syndrome 48
Berardinelli Syndrome 42
Seip Syndrome 42
Bscl 48
Gcl 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
berardinelli-seip congenital lipodystrophy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 E88.1
UMLS via Orphanet63 C0011859

Related Diseases for Congenital Generalized Lipodystrophy Type 2

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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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1berardinelli-seip congenital lipodystrophy32.2BSCL2, AGPAT2
2lipodystrophy30.8AGPAT2, BSCL2, PPARG
3acanthosis nigricans30.4AGPAT2, BSCL2
4insulin resistance30.3PPARG, BSCL2, FOS, AGPAT2
5lipoatrophic diabetes11.1
6diabetes mellitus10.7
7dystonia10.5
8congenital generalized lipodystrophy type 410.5
9distal hereditary motor neuropathy10.4AGPAT2
10aredyld10.4
11lipodystrophy, familial partial, type 210.4
12hyperglycemia10.3
13congenital generalized lipodystrophy10.3
14congenital generalized lipodystrophy type 110.3
15encephalopathy, progressive, with or without lipodystrophy10.3
16systemic cystic angiomatosis - seip syndrome10.3
17krabbe disease10.2
18hypertriglyceridemia10.2BSCL2, PPARG
19ectodermal dysplasia10.1
20hepatitis10.1
21liver disease10.1
22rickets10.1
23neuropathy10.1
24pancreatitis10.1
25retinal degeneration10.1
26retinitis10.1
27nonalcoholic steatohepatitis10.1
28acquired generalized lipodystrophy10.1
29periodontitis10.1
30congenital generalized lipodystrophy type 310.1
31papillary thyroid carcinoma10.1PPARG, CAV1
32pituitary tumors10.1PPARG, CAV1
33pulmonary fibrosis10.1PPARG, CAV1
34pituitary adenoma10.0PPARG, CAV1
35follicular thyroid carcinoma10.0PPARG, FOS
36monocytic leukemia10.0FOS, PPARG
37familial partial lipodystrophy10.0AGPAT2, BSCL2, PPARG
38hypertension10.0CAV1, PPARG
39colon adenocarcinoma9.9CAV1, FOS
40vascular disease9.9PPARG, CAV1
41cholera9.9CAV1, FOS
42fibrosarcoma9.9CAV1, FOS
43liver cirrhosis9.8CAV1, FOS
44lung cancer9.8CAV1, FOS, PPARG
45retinoblastoma9.8CAV1, FOS, PPARG
46glioblastoma9.7PPARG, FOS, CAV1
47ovarian cancer9.7FOS, CAV1, AGPAT2
48colonic benign neoplasm9.7CAV1, FOS, PPARG
49colorectal cancer9.7CAV1, FOS, PPARG
50t-cell leukemia9.7CAV1, FOS

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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Symptoms by clinical synopsis from OMIM:

269700

Clinical features from OMIM:

269700,608594,612526

Symptoms:

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

HPO human phenotypes related to Congenital Generalized Lipodystrophy Type 2:

(show all 69)
id Description Frequency HPO Source Accession
1 mandibular prognathia hallmark (90%) HP:0000303
2 prominent supraorbital ridges hallmark (90%) HP:0000336
3 diabetes mellitus hallmark (90%) HP:0000819
4 hyperinsulinemia hallmark (90%) HP:0000842
5 insulin resistance hallmark (90%) HP:0000855
6 acanthosis nigricans hallmark (90%) HP:0000956
7 large hands hallmark (90%) HP:0001176
8 broad foot hallmark (90%) HP:0001769
9 hepatomegaly hallmark (90%) HP:0002240
10 abnormality of lipid metabolism hallmark (90%) HP:0003119
11 muscle hypertrophy hallmark (90%) HP:0003712
12 accelerated skeletal maturation hallmark (90%) HP:0005616
13 lipoatrophy hallmark (90%) HP:0100578
14 precocious puberty typical (50%) HP:0000826
15 growth hormone excess typical (50%) HP:0000845
16 hyperhidrosis typical (50%) HP:0000975
17 hypertrichosis typical (50%) HP:0000998
18 abnormality of skin pigmentation typical (50%) HP:0001000
19 hepatic failure typical (50%) HP:0001399
20 hypertrophic cardiomyopathy typical (50%) HP:0001639
21 bone cyst typical (50%) HP:0012062
22 cognitive impairment typical (50%) HP:0100543
23 renal insufficiency occasional (7.5%) HP:0000083
24 nephropathy occasional (7.5%) HP:0000112
25 abnormality of the menstrual cycle occasional (7.5%) HP:0000140
26 polycystic ovaries occasional (7.5%) HP:0000147
27 abnormality of the oral cavity occasional (7.5%) HP:0000163
28 cirrhosis occasional (7.5%) HP:0001394
29 hepatic steatosis occasional (7.5%) HP:0001397
30 coronary artery disease occasional (7.5%) HP:0001677
31 pancreatitis occasional (7.5%) HP:0001733
32 pulmonary hypertension occasional (7.5%) HP:0002092
33 ventriculomegaly occasional (7.5%) HP:0002119
34 recurrent fractures occasional (7.5%) HP:0002757
35 peripheral neuropathy occasional (7.5%) HP:0009830
36 abnormality of immune system physiology occasional (7.5%) HP:0010978
37 glomerulopathy occasional (7.5%) HP:0100820
38 autosomal recessive inheritance HP:0000007
39 clitoromegaly HP:0000057
40 labial hypertrophy HP:0000065
41 tall stature HP:0000098
42 decreased fertility HP:0000144
43 polycystic ovaries HP:0000147
44 mandibular prognathia HP:0000303
45 hyperinsulinemia HP:0000842
46 decreased fertility in females HP:0000868
47 insulin-resistant diabetes mellitus at puberty HP:0000877
48 acanthosis nigricans HP:0000956
49 hirsutism HP:0001007
50 large hands HP:0001176
51 intellectual disability, mild HP:0001256
52 cirrhosis HP:0001394
53 hepatic steatosis HP:0001397
54 umbilical hernia HP:0001537
55 prominent umbilicus HP:0001544
56 hypertrophic cardiomyopathy HP:0001639
57 acute pancreatitis HP:0001735
58 splenomegaly HP:0001744
59 long foot HP:0001833
60 hypertriglyceridemia HP:0002155
61 hepatomegaly HP:0002240
62 polyphagia HP:0002591
63 cystic angiomatosis of bone HP:0002833
64 decreased serum leptin HP:0003292
65 congenital onset HP:0003577
66 generalized muscular appearance from birth HP:0003716
67 nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) HP:0003809
68 accelerated skeletal maturation HP:0005616
69 lipodystrophy HP:0009125

Drugs & Therapeutics for Congenital Generalized Lipodystrophy Type 2

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

32
Skin, Liver, Bone, Ovary, Tongue

Animal Models for Congenital Generalized Lipodystrophy Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Congenital Generalized Lipodystrophy Type 2:

36 (show all 15)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6PPARG, BSCL2, CAV1, AGPAT2
2MP:00053708.6PPARG, BSCL2, CAV1, AGPAT2
3MP:00053678.6AGPAT2, CAV1, BSCL2, PPARG
4MP:00020068.2PPARG, FOS, CAV1
5MP:00053798.1PPARG, FOS, CAV1, AGPAT2
6MP:00053908.1AGPAT2, CAV1, FOS, PPARG
7MP:00053848.1CAV1, FOS, BSCL2, PPARG
8MP:00053898.0CAV1, FOS, BSCL2, PPARG
9MP:00107717.8AGPAT2, CAV1, FOS, BSCL2, PPARG
10MP:00053977.8AGPAT2, CAV1, FOS, BSCL2, PPARG
11MP:00053867.8PPARG, BSCL2, FOS, CAV1, AGPAT2
12MP:00053877.8AGPAT2, CAV1, FOS, BSCL2, PPARG
13MP:00053787.7PPARG, BSCL2, FOS, CAV1, AGPAT2
14MP:00053767.7AGPAT2, CAV1, FOS, BSCL2, PPARG
15MP:00107687.5PPARG, BSCL2, FOS, CAV1, AGPAT2

Publications for Congenital Generalized Lipodystrophy Type 2

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Variations for Congenital Generalized Lipodystrophy Type 2

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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:

6 (show all 24)
id Gene Name 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
15AGPAT2NM_006412.3(AGPAT2): c.202C> T (p.Arg68Ter)single nucleotide variantPathogenicrs104894093GRCh37Chr 9, 139571989: 139571989
16AGPAT2AGPAT2, IVS4AS, A-G, -2single nucleotide variantPathogenic
17AGPAT2NM_006412.3(AGPAT2): c.377dupT (p.Pro128Alafs)duplicationPathogenicrs387906355GRCh37Chr 9, 139571527: 139571528
18AGPAT2NM_006412.3(AGPAT2): c.683T> C (p.Leu228Pro)single nucleotide variantPathogenicrs104894100GRCh37Chr 9, 139568358: 139568358
19AGPAT2NM_006412.3(AGPAT2): c.418_420delTTC (p.Phe140del)deletionPathogenicrs387906356GRCh37Chr 9, 139571485: 139571487
20AGPAT2NM_006412.3(AGPAT2): c.643A> T (p.Lys215Ter)single nucleotide variantPathogenicrs121908925GRCh37Chr 9, 139569205: 139569205
21AGPAT2AGPAT2, IVS3, A-G, -1single nucleotide variantPathogenic
22AGPAT2NM_006412.3(AGPAT2): c.570C> A (p.Tyr190Ter)single nucleotide variantPathogenicrs121908926GRCh37Chr 9, 139571055: 139571055
23AGPAT2NM_001012727.1: c.366_492+910del1037deletionPathogenicGRCh37Chr 9, 139570503: 139571539
24CAV1NM_001753.4(CAV1): c.112G> T (p.Glu38Ter)single nucleotide variantPathogenicrs121434501GRCh37Chr 7, 116166660: 116166660

Expression for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1FOS, PPARG
29.1PPARG, FOS
3
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.1FOS, PPARG
4
Show member pathways
Calcium signaling in the CD4+ TCR pathway37
9.1PPARG, FOS
59.0CAV1, FOS
69.0CAV1, FOS
79.0FOS, CAV1
8
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.0FOS, CAV1
99.0AGPAT2, BSCL2, PPARG

Compounds for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1Isovaleryl-CoA249.9PPARG, AGPAT2
2Lauroyl-CoA249.8AGPAT2, PPARG
3Nonanoyl-CoA249.8AGPAT2, PPARG
4Pentanoyl-CoA249.8AGPAT2, PPARG
5Tetracosanoyl-CoA249.8AGPAT2, PPARG
6trans-Octadec-2-enoyl-CoA249.8AGPAT2, PPARG
7Undecanoyl-CoA249.8AGPAT2, PPARG
8Isobutyryl-CoA249.8PPARG, AGPAT2
92-methylbutyryl-coa44 2410.8AGPAT2, PPARG
102-Methylhexanoyl-CoA249.8AGPAT2, PPARG
11Butyryl-CoA249.8AGPAT2, PPARG
12Decanoyl-CoA (n-C10:0CoA)249.8AGPAT2, PPARG
13Glutaconyl-CoA249.8AGPAT2, PPARG
14Hexanoyl-CoA249.8AGPAT2, PPARG
15Eicosanoyl-CoA249.8PPARG, AGPAT2
163Z-dodecenoyl-CoA249.8PPARG, AGPAT2
17gw966244 2810.8CAV1, PPARG
18octanoyl-coa44 2410.8PPARG, AGPAT2
19Acrylyl-CoA249.8PPARG, AGPAT2
20Crotonoyl-CoA249.8AGPAT2, PPARG
21Pristanoyl-CoA249.8AGPAT2, PPARG
22trans-2-Hexenoyl-CoA249.7AGPAT2, PPARG
23(2E)-Tetradecenoyl-CoA249.7PPARG, AGPAT2
24(2E)-Decenoyl-CoA249.7AGPAT2, PPARG
25(2E)-Dodecenoyl-CoA249.7AGPAT2, PPARG
26(2E)-Octenoyl-CoA249.7AGPAT2, PPARG
27(2E)-Hexadecenoyl-CoA249.7PPARG, AGPAT2
28stearoyl-coa44 2410.7PPARG, AGPAT2
29Propionyl-CoA249.6PPARG, AGPAT2
30Heptanoyl-CoA249.6PPARG, AGPAT2
31pgj-2449.6FOS, PPARG
32Palmityl-CoA249.6AGPAT2, PPARG
33ndga449.6FOS, PPARG
342-deoxyglucose44 1110.6FOS, PPARG
3515-deoxy-delta-12,14-prostaglandin j2449.6FOS, PPARG
36pdtc449.6PPARG, FOS
37losartan44 50 28 1112.6FOS, PPARG
38palmitate449.4CAV1, PPARG
39rosiglitazone28 44 50 24 1113.3PPARG, CAV1
40gp 130449.3CAV1, FOS
41gf 109203x44 6110.2FOS, PPARG
42egcg449.0CAV1, FOS
43troglitazone44 28 61 1112.0FOS, PPARG
44ly294002449.0PPARG, FOS, CAV1
45genistein44 28 61 2 24 1114.0CAV1, FOS, PPARG
46arachidonic acid44 28 24 1112.0PPARG, FOS, CAV1
47cycloheximide448.9PPARG, FOS, CAV1
48dexamethasone44 50 28 1111.9CAV1, FOS, PPARG
49vegf448.9PPARG, FOS, CAV1
50cytochalasin d44 619.7CAV1, FOS

GO Terms for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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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
1lipid storageGO:0199159.4CAV1, BSCL2
2response to estrogenGO:0436279.3CAV1, PPARG
3response to coldGO:0094099.0FOS, PPARG
4response to progesteroneGO:0325708.7CAV1, FOS

Molecular functions related to Congenital Generalized Lipodystrophy Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.1FOS, PPARG

Products for genes affiliated with Congenital Generalized Lipodystrophy Type 2

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  • Antibodies
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet