Familial partial lipodystrophy (WP5102)

Homo sapiens

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Familial partial lipodystrophy (FPLD) is divided into six subtypes of the disease. It is not known yet which gene is mutated to cause FPLD type 1. Type 2 is caused by mutations in lamin A, which can be either through LMNA mutations or ZMPSTE24 mutations. Type 3 has been shown to be linked to PPARG mutations. The LIPE gene causes triacylglycerol breakdown. Mutations in this gene lead more breakdown and causes type 6 FPLD. CIDEC inhibits LIPE. Mutations in CIDEC lead to type 5 FPLD. PLIN1 stimulates CIDEC and mutations in this leads to type 4 FPLD. The phenotype related to all types of FPLD, is a loss of adipose tissue in the limbs and some metabolic abnormalities. With FPLD type 1 there is a loss of subcutaneous fat from the limbs. Patients with type 2 have an increased muscularity and a loss of fat in the limbs. There is also an accumulation of fat in the face and neck. In type 3 there is a loss of adipose tissue in the distal part of the limbs. Type 4 patients have shown to have small adipocytes, macrophage infiltration and fibrosis of adipose tissue. In type 5, there are small compartments in lipid droplets. Lastly, type 6 FPLD shows an increased visceral fat, hepatosteatosis, insulin resistance, and diabetes. Some patients may show muscular dystrophy and elevated serum creatine phosphokinase

Authors

Ulas Babayigit , Eric Weitz , and Egon Willighagen

Activity

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

familial partial lipodystrophy type 6 familial partial lipodystrophy type 3 familial partial lipodystrophy familial partial lipodystrophy type 1 familial partial lipodystrophy type 5 disease familial partial lipodystrophy type 2 familial partial lipodystrophy type 4

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
Diacylglycerol Metabolite chebi:85682
Farnesyl Metabolite chebi:86019
Monoacylglycerol Metabolite chebi:17408
CAAX Metabolite chebi:15356
Farnesyl-L-cysteine Metabolite chebi:86019
Triacylglycerol Metabolite chebi:17855
LMNB1 GeneProduct ensembl:ENSG00000113368
BANF1 GeneProduct ensembl:ENSG00000175334
LPL GeneProduct ensembl:ENSG00000175445
CEBPA GeneProduct ensembl:ENSG00000245848
FABP4 GeneProduct ensembl:ENSG00000170323
PRRX1 GeneProduct ensembl:ENSG00000116132
KLF9 GeneProduct ensembl:ENSG00000119138
KLF5 GeneProduct ensembl:ENSG00000102554
SREBF1 GeneProduct ensembl:ENSG00000072310
GATA2 GeneProduct ensembl:ENSG00000179348
GATA3 GeneProduct ensembl:ENSG00000107485
PNPLA2 GeneProduct ensembl:ENSG00000177666
STAT5B GeneProduct ensembl:ENSG00000173757
MGLL GeneProduct ensembl:ENSG00000074416
KLF2 GeneProduct ensembl:ENSG00000127528
LMNB2 GeneProduct ensembl:ENSG00000176619
CIDEA GeneProduct ensembl:ENSG00000176194
PPARG GeneProduct ensembl:ENSG00000132170
PPARA GeneProduct ensembl:ENSG00000186951
CIDEC GeneProduct ensembl:ENSG00000187288
PLIN1 GeneProduct ensembl:ENSG00000166819
LIPE GeneProduct ensembl:ENSG00000079435
ZMPSTE24 GeneProduct ensembl:ENSG00000084073
FNTA GeneProduct ensembl:ENSG00000168522
ICMT GeneProduct ensembl:ENSG00000116237
LMNA GeneProduct ensembl:ENSG00000160789
Lamin A GeneProduct ensembl:ENSG00000160789
Lamin B2 GeneProduct ensembl:ENSG00000176619
Lamin B1 GeneProduct ensembl:ENSG00000113368
AKT2 Protein ensembl:ENSG00000105221
MAPK9 Protein ensembl:ENSG00000050748
PI3K Protein ensembl:ENSG00000121879
Insulin Protein uniprot:A6XGL2
Prelamin-A/C Protein uniprot:P02545

References

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