Acquired partial lipodystrophy / Barraquer-Simons syndrome (Homo sapiens)

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611116, 8112xCleavingContinuous stimulationAdipocyte lysisExcess amount of membrane attack complexHydrolysisNot enough evidenceDiseaseAdipocyteCFBBarraquer-Simons syndromeAutoimmune diseaseC5LMNACFDC3aMembranoproliferative glomerulonephritis664, 711116, 8866, 81181111C3C3bLMNB2C3NeFC3bCFBbC3bCFBbC3NeF5, 113, 5, 115, 115, 115, 115, 115, 11Farnesyl2, 11Prelamin-B2Prelamin-B2RCE1CAAXFarnesylFNTAFarnesyl-L-cysteineICMTPrelamin-B2CAAXPrelamin-B2Farnesyl-L-cysteineM5, 115, 113, 5, 115, 115, 115, 115, 11Farnesyl5, 11Prelamin-B1Prelamin-B1CAAXFarnesyl-L-cysteineLMNB1Prelamin-B1CAAXPrelamin-B1Farnesyl-L-cysteineM5, 11DNA replicationRNA transcriptionCell cycle regulationMehcanical supportetc.10, 13Nuclear LaminaLamin B2Lamin B1Lamin ALamin B2Lamin B1BindingConversionGene/proteinMetaboliteCatalysisStimulationMethylationMMutationsLegendTranscriptionxx


Description

Autoimmune diseases have been shown to cause an increased level of C3NeF, which makes the C3bBb comples more stable. Because of this, there will be continuous stimulation of the alternative pathway, leading to excess amounts of membrane attack complex. These MACs will lead to adipocyte lysis, causing Barraquer-Simons syndrome.

Many patients have shown mutations in the LMNB2 gene, but this is not the case for all patients. Some people with mutations in this gene do not have the disease. More evidence is therefore required to conclude if this gene is linked to the disease.

Patients with this disease have a decrease of fat in the face, neck, upper extremities, trunk and upper abdomen. Some patients also have excess fat over the gluteal region, thighs and calves.

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Ontology Terms

 

Bibliography

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  1. Gao J, Liao J, Yang GY; ''CAAX-box protein, prenylation process and carcinogenesis.''; Am J Transl Res, 2009 PubMed Europe PMC Scholia
  2. Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN; ''Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.''; Am J Hum Genet, 2006 PubMed Europe PMC Scholia
  3. Corvillo F, López-Trascasa M; ''Acquired partial lipodystrophy and C3 glomerulopathy: Dysregulation of the complement system as a common pathogenic mechanism.''; Nefrologia, 2018 PubMed Europe PMC Scholia
  4. Gruenbaum Y, Goldman RD, Meyuhas R, Mills E, Margalit A, Fridkin A, Dayani Y, Prokocimer M, Enosh A; ''The nuclear lamina and its functions in the nucleus.''; Int Rev Cytol, 2003 PubMed Europe PMC Scholia
  5. Simon DN, Wilson KL; ''Partners and post-translational modifications of nuclear lamins.''; Chromosoma, 2013 PubMed Europe PMC Scholia
  6. Broekema MF, Savage DB, Monajemi H, Kalkhoven E; ''Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants.''; Biochim Biophys Acta Mol Cell Biol Lipids, 2019 PubMed Europe PMC Scholia
  7. Garg A; ''Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.''; J Clin Endocrinol Metab, 2011 PubMed Europe PMC Scholia
  8. Misra A, Peethambaram A, Garg A; ''Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature.''; Medicine (Baltimore), 2004 PubMed Europe PMC Scholia
  9. Dittmer TA, Misteli T; ''The lamin protein family.''; Genome Biol, 2011 PubMed Europe PMC Scholia
  10. Cox LS, Faragher RG; ''From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing.''; Cell Mol Life Sci, 2007 PubMed Europe PMC Scholia
  11. Dittmer TA, Misteli T; ''The lamin protein family.''; Genome Biol, 2011 PubMed Europe PMC Scholia
  12. Akinci B, Sahinoz M, Oral E; ''Lipodystrophy Syndromes: Presentation and Treatment''; , 2000 PubMed Europe PMC Scholia
  13. Gruenbaum Y, Goldman RD, Meyuhas R, Mills E, Margalit A, Fridkin A, Dayani Y, Prokocimer M, Enosh A; ''The nuclear lamina and its functions in the nucleus.''; Int Rev Cytol, 2003 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
118687view07:14, 1 June 2021UlasBabayigitOntology Term : 'lipodystrophy' added !
118686view07:13, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
118685view07:12, 1 June 2021UlasBabayigitOntology Term : 'PW:0000001' removed !
118201view07:18, 26 May 2021UlasBabayigitAdded identifier to C3NeF
117973view11:03, 23 May 2021EweitzOntology Term : 'DOID:4' removed !
117972view11:03, 23 May 2021EweitzModified title
117141view09:38, 18 May 2021UlasBabayigitCorrected nodes
117132view09:05, 18 May 2021UlasBabayigitOntology Term : 'Disease' added !
117131view09:05, 18 May 2021UlasBabayigitOntology Term : 'Pathway Ontology' added !
117130view09:05, 18 May 2021UlasBabayigitModified description
117129view08:58, 18 May 2021UlasBabayigitCorrected legend
117090view06:54, 17 May 2021UlasBabayigitNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
Autoimmune diseaseQ8084905 (Wikidata)
Barraquer-Simons syndromeQ4863247 (Wikidata)
C3GeneProductENSG00000125730 (Ensembl)
C3NeFMetabolite
C3aGeneProductENSG00000125730 (Ensembl)
C3bGeneProduct718 (Entrez Gene)
C3bGeneProductENSG00000125730 (Ensembl)
C5GeneProductENSG00000106804 (Ensembl)
CAAXMetaboliteCHEBI:15356 (ChEBI)
CFBGeneProductENSG00000243649 (Ensembl)
CFBbGeneProductENSG00000243649 (Ensembl)
CFDGeneProductENSG00000197766 (Ensembl)
FNTAGeneProductENSG00000168522 (Ensembl)
Farnesyl-L-cysteineMetaboliteCHEBI:86019 (ChEBI)
Farnesyl-L-cysteineMetaboliteCHEBI:86019 (Uniprot-TrEMBL)
FarnesylProteinB3KVN2 (Uniprot-TrEMBL)
FarnesylMetaboliteCHEBI:86019 (ChEBI)
ICMTGeneProductENSG00000116237 (Ensembl)
LMNAGeneProductENSG00000160789 (Ensembl)
LMNB1GeneProductENSG00000113368 (Ensembl)
LMNB2GeneProductENSG00000176619 (Ensembl)
Lamin AGeneProductENSG00000160789 (Ensembl)
Lamin B1GeneProductENSG00000113368 (Ensembl)
Lamin B2GeneProductENSG00000176619 (Ensembl)
Membranoproliferative glomerulonephritisQ2299379 (Wikidata)
Prelamin-B1ProteinENSG00000113368 (Ensembl)
Prelamin-B2ProteinENSG00000176619 (Ensembl)
RCE1GeneProductENSG00000173653 (Ensembl)

Annotated Interactions

No annotated interactions

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