Acquired partial lipodystrophy / Barraquer-Simons syndrome (WP5104)

Homo sapiens

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Autoimmune diseases have been shown to cause an increased level of C3NeF, which makes the C3bBb complex 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.

Authors

Ulas Babayigit , Eric Weitz , and Friederike Ehrhart

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Cell Type Ontology

fat cell

Pathway Ontology

disease pathway

Disease Ontology

lipodystrophy

Participants
Query Drugst.One

Label Type Compact URI Comment
C3NeF Metabolite wikidata:Q106969374
Farnesyl Metabolite chebi:86019
CAAX Metabolite chebi:15356
Farnesyl-L-cysteine Metabolite chebi:86019
C5 GeneProduct ensembl:ENSG00000106804
CFD GeneProduct ensembl:ENSG00000197766
LMNA GeneProduct ensembl:ENSG00000160789
C3a GeneProduct ensembl:ENSG00000125730
CFB GeneProduct ensembl:ENSG00000243649
C3 GeneProduct ensembl:ENSG00000125730
C3b GeneProduct ensembl:ENSG00000125730
LMNB2 GeneProduct ensembl:ENSG00000176619
CFBb GeneProduct ensembl:ENSG00000243649
RCE1 GeneProduct ensembl:ENSG00000173653
FNTA GeneProduct ensembl:ENSG00000168522
ICMT GeneProduct ensembl:ENSG00000116237
LMNB1 GeneProduct ensembl:ENSG00000113368
Lamin B2 GeneProduct ensembl:ENSG00000176619
Lamin B1 GeneProduct ensembl:ENSG00000113368
Lamin A GeneProduct ensembl:ENSG00000160789
Prelamin-B2 Protein ensembl:ENSG00000176619
Prelamin-B1 Protein ensembl:ENSG00000113368

References

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  2. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature. Misra A, Peethambaram A, Garg A. Medicine (Baltimore). 2004 Jan;83(1):18–34. PubMed Europe PMC Scholia
  3. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, et al. Am J Hum Genet. 2006 Aug;79(2):383–9. PubMed Europe PMC Scholia
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  8. Partners and post-translational modifications of nuclear lamins. Simon DN, Wilson KL. Chromosoma. 2013 Mar;122(1–2):13–31. PubMed Europe PMC Scholia
  9. Acquired partial lipodystrophy and C3 glomerulopathy: Dysregulation of the complement system as a common pathogenic mechanism. Corvillo F, López-Trascasa M. Nefrologia (Engl Ed). 2018;38(3):258–66. PubMed Europe PMC Scholia