Congenital generalized lipodystrophy (Homo sapiens)

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1011122101013, 16172, 1417174392517102856710181081815xxDiseaseAdipogenesisCell cycle progressionTranslocates FA to lipid dropletsTriacylglycerolAKT2DGAT1PI3KCGL type 3GRB2CGL type 1CGL type 4INSGPAT3Congenital Generalized Lipodystrophy(CGL)ITGB4IRS1DGAT2CGL type 28, 186, 8151, 86, 88, 18Loss of lipid droplet formationLoss of metabolically active adipose tissueRAS-ERKHIF1ACAV1BSCL2FYNSeipinCAVIN1AGPAT2Glycerol-3-phosphateCAV1CAVIN1Phosphatidic acidDiacylglycerolLysophosphatidic acidLPIN3LPIN2LPIN1BindingPathwayInhibitionConversionGene/proteinMetaboliteTranscriptionCatalysisStimulationMethylatioinMMutationsLegendxx


Description

Congenital generalized lipodystrophy (CGL) is divided into four subtypes. Type 1 is mainly caused by mutations in AGPAT2 gene, subtype 2 by BSCL2 mutations, type 3 by CAV1 mutations and type 4 by CAVIN1 mutations. Patients with CGL show a near total absence of body fat which starts either at birth or shortly after. There are also metabolic abnormalities. Type 1 CGL shows loss of metabolically active adipose tissue. Type 2 CGL has a general absence of adipose tissue. Patients with type 3 CGL show vitamin D resistance, hypocalcemia, hypomagnesemia and have a short stature. Patients with type 4 CGL show myopathy, skeletal abnormalities, cardiac arrhythmias, pyloric stenosis and gastrointestinal motility problems.

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Bibliography

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  3. Nwosu ZC, Ebert MP, Dooley S, Meyer C; ''Caveolin-1 in the regulation of cell metabolism: a cancer perspective.''; Mol Cancer, 2016 PubMed Europe PMC Scholia
  4. Wang H, Pilch PF, Liu L; ''Cavin-1/PTRF mediates insulin-dependent focal adhesion remodeling and ameliorates high-fat diet-induced inflammatory responses in mice.''; J Biol Chem, 2019 PubMed Europe PMC Scholia
  5. Sim MFM, Persiani E, Talukder MMU, Mcilroy GD, Roumane A, Edwardson JM, Rochford JJ; ''Oligomers of the lipodystrophy protein seipin may co-ordinate GPAT3 and AGPAT2 enzymes to facilitate adipocyte differentiation.''; Sci Rep, 2020 PubMed Europe PMC Scholia
  6. Gao M, Huang X, Song BL, Yang H; ''The biogenesis of lipid droplets: Lipids take center stage.''; Prog Lipid Res, 2019 PubMed Europe PMC Scholia
  7. Czech MP, Tencerova M, Pedersen DJ, Aouadi M; ''Insulin signalling mechanisms for triacylglycerol storage.''; Diabetologia, 2013 PubMed Europe PMC Scholia
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  9. Lightbourne M, Brown RJ; ''Genetics of Lipodystrophy.''; Endocrinol Metab Clin North Am, 2017 PubMed Europe PMC Scholia
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  15. Triantafyllou EA, Georgatsou E, Mylonis I, Simos G, Paraskeva E; ''Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2018 PubMed Europe PMC Scholia
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History

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CompareRevisionActionTimeUserComment
123625view08:24, 7 August 2022EgonwModified title
119172view06:38, 20 June 2021EgonwNot a mim-conversion
119091view06:42, 17 June 2021Fehrhartchanged a few unreviewed Uniprot IDs to something reviewed
119090view06:33, 17 June 2021FehrhartChecked and corrected a few interactions
118677view07:06, 1 June 2021UlasBabayigitOntology Term : 'congenital generalized lipodystrophy type 4' added !
118676view07:06, 1 June 2021UlasBabayigitOntology Term : 'congenital generalized lipodystrophy type 3' added !
118675view07:05, 1 June 2021UlasBabayigitOntology Term : 'congenital generalized lipodystrophy type 2' added !
118674view07:04, 1 June 2021UlasBabayigitOntology Term : 'congenital generalized lipodystrophy type 1' added !
118673view07:03, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
117969view11:01, 23 May 2021EweitzOntology Term : 'DOID:4' removed !
117968view11:01, 23 May 2021EweitzOntology Term : 'PW:0000001' removed !
117967view11:00, 23 May 2021EweitzModified title
117133view09:19, 18 May 2021UlasBabayigitCorrected data nodes
117118view07:10, 18 May 2021UlasBabayigitModified description
117117view06:54, 18 May 2021UlasBabayigitOntology Term : 'Pathway Ontology' added !
117116view06:54, 18 May 2021UlasBabayigitOntology Term : 'Disease' added !
117115view06:54, 18 May 2021UlasBabayigitOntology Term : 'congenital generalized lipodystrophy' added !
117114view06:52, 18 May 2021UlasBabayigitchanged legend
117087view06:31, 17 May 2021UlasBabayigitNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AGPAT2GeneProductENSG00000169692 (Ensembl)
AKT2GeneProductENSG00000105221 (Ensembl)
BSCL2GeneProductENSG00000168000 (Ensembl)
CAV1GeneProductENSG00000105974 (Ensembl)
CAVIN1GeneProductENSG00000177469 (Ensembl)
CGL type 1Q32147669 (Wikidata)
CGL type 2Q32147684 (Wikidata)
CGL type 3Q32147698 (Wikidata)
CGL type 4Q32147713 (Wikidata)
Congenital Generalized Lipodystrophy (CGL)Q3242224 (Wikidata)
DGAT1GeneProductENSG00000185000 (Ensembl)
DGAT2GeneProductENSG00000062282 (Ensembl)
DiacylglycerolMetaboliteCHEBI:85682 (ChEBI)
FYNGeneProductENSG00000010810 (Ensembl)
GPAT3GeneProductENSG00000138678 (Ensembl)
GRB2GeneProductENSG00000177885 (Ensembl)
Glycerol-3-phosphateProteinA0A024R8I7 (Uniprot-TrEMBL)
HIF1AGeneProductENSG00000100644 (Ensembl)
INSProteinENSG00000254647 (Ensembl) Insulin
IRS1GeneProductENSG00000169047 (Ensembl)
ITGB4GeneProductENSG00000132470 (Ensembl)
LPIN1GeneProductENSG00000134324 (Ensembl)
LPIN2GeneProductENSG00000101577 (Ensembl)
LPIN3GeneProductENSG00000132793 (Ensembl)
Lysophosphatidic acidMetaboliteChEMBL117021 (ChEMBL compound)
PI3KGeneProductENSG00000121879 (Ensembl)
Phosphatidic acidMetaboliteCHEBI:16337 (ChEBI)
RAS-ERKPathwayWP3853 (WikiPathways)
SeipinProteinF8WER0 (Uniprot-TrEMBL) Protein of BSCL2
TriacylglycerolMetaboliteCHEBI:17855 (ChEBI)

Annotated Interactions

No annotated interactions

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