Familial partial lipodystrophy (FPLD) (Homo sapiens)

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6, 89, 1326, 8226, 85, 1710, 14174, 7101013105, 17171036, 8166, 8101, 1710101512172Unknown genexAdipogenesisAdipocyte survivalIncreased lipid storageReduced lipolysisDNA replicationRNA transcriptionCell cycle regulationMehcanical supportetc.STAT5BLPLKLF9FABP4BANF1FPLD type 4FPLD type 5KLF2DiacylglycerolFPLD type 3MonoacylglycerolGATA3CEBPAMGLLPRRX1Familial Parital Lipodystrophy(FPLD)KLF5LMNB1FarnesylPNPLA2FPLD type 2FPLD type 6AKT2GATA2FPLD type 1SREBF1LMNB212, 176, 812, 1712, 1741112, 1712, 1712, 17FA and GlycerolCIDEAPPARGPPARAMAPK9PI3KCIDECPLIN1InsulinLIPE31212, 17Nuclear Laminanon-matured Lamin APrelamin-A/CPrelamin-A/CZMPSTE24CAAXFNTAFarnesyl-L-cysteineICMTLMNAPrelamin-A/CCAAXPrelamin-A/CFarnesyl-L-cysteineZMPSTE24MFarnesyl-L-cysteineM1010TriacylglycerolLamin ALamin ALamin B2Lamin B1BindingInhibitionConversionGene/proteinMetaboliteTranscriptionCatalysisStimulationMethylatioinMMutationsLegendDiseaseCleavingxx


Description

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

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Bibliography

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History

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CompareRevisionActionTimeUserComment
118684view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 6' added !
118683view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 5' added !
118682view07:09, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 4' added !
118681view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 3' added !
118680view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 2' added !
118679view07:08, 1 June 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy type 1' added !
118678view07:07, 1 June 2021UlasBabayigitOntology Term : 'disease pathway' added !
117970view11:01, 23 May 2021EweitzOntology Term : 'PW:0000001' removed !
117966view11:00, 23 May 2021EweitzModified title
117143view09:40, 18 May 2021UlasBabayigitRemoved incorrect farnesyl node
117137view09:28, 18 May 2021UlasBabayigitCorrected nodes, changed unkown gene into a graphcial element
117120view08:03, 18 May 2021UlasBabayigitModified description
117119view07:32, 18 May 2021UlasBabayigitFixed the cleaving of ZMPSTE24 and changed legend
117106view14:07, 17 May 2021UlasBabayigitOntology Term : 'Pathway Ontology' added !
117105view14:07, 17 May 2021UlasBabayigitOntology Term : 'familial partial lipodystrophy' added !
117104view14:06, 17 May 2021UlasBabayigitOntology Term : 'Disease' added !
117088view06:40, 17 May 2021UlasBabayigitNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AKT2ProteinENSG00000105221 (Ensembl)
BANF1GeneProductENSG00000175334 (Ensembl)
CAAXMetaboliteCHEBI:15356 (ChEBI)
CEBPAGeneProductENSG00000245848 (Ensembl)
CIDEAGeneProductENSG00000176194 (Ensembl)
CIDECGeneProductENSG00000187288 (Ensembl)
DiacylglycerolMetaboliteCHEBI:85682 (ChEBI)
FABP4GeneProductENSG00000170323 (Ensembl)
FNTAGeneProductENSG00000168522 (Ensembl)
FPLD type 1Q60195045 (Wikidata)
FPLD type 2Q60195039 (Wikidata)
FPLD type 3Q60195041 (Wikidata)
FPLD type 4Q60195043 (Wikidata)
FPLD type 5Q60195040 (Wikidata)
FPLD type 6Q60195044 (Wikidata)
Familial Parital Lipodystrophy (FPLD)Q5432945 (Wikidata)
Farnesyl-L-cysteineMetaboliteCHEBI:86019 (ChEBI)
FarnesylMetaboliteCHEBI:86019 (ChEBI)
GATA2GeneProductENSG00000179348 (Ensembl)
GATA3GeneProductENSG00000107485 (Ensembl)
ICMTGeneProductENSG00000116237 (Ensembl)
InsulinProteinA6XGL2 (Uniprot-TrEMBL)
KLF2GeneProductENSG00000127528 (Ensembl)
KLF5GeneProductENSG00000102554 (Ensembl)
KLF9GeneProductENSG00000119138 (Ensembl)
LIPEGeneProductENSG00000079435 (Ensembl)
LMNAGeneProductENSG00000160789 (Ensembl)
LMNB1GeneProductENSG00000113368 (Ensembl)
LMNB2GeneProductENSG00000176619 (Ensembl)
LPLGeneProductENSG00000175445 (Ensembl)
Lamin AGeneProductENSG00000160789 (Ensembl)
Lamin B1GeneProductENSG00000113368 (Ensembl)
Lamin B2GeneProductENSG00000176619 (Ensembl)
MAPK9ProteinENSG00000050748 (Ensembl)
MGLLGeneProductENSG00000074416 (Ensembl)
MonoacylglycerolMetaboliteCHEBI:17408 (ChEBI)
PI3KProteinENSG00000121879 (Ensembl)
PLIN1GeneProductENSG00000166819 (Ensembl)
PNPLA2GeneProductENSG00000177666 (Ensembl)
PPARAGeneProductENSG00000186951 (Ensembl)
PPARGGeneProductENSG00000132170 (Ensembl)
PRRX1GeneProductENSG00000116132 (Ensembl)
Prelamin-A/CProteinP02545 (Uniprot-TrEMBL)
SREBF1GeneProductENSG00000072310 (Ensembl)
STAT5BGeneProductENSG00000173757 (Ensembl)
TriacylglycerolMetaboliteCHEBI:17855 (ChEBI)
ZMPSTE24GeneProductENSG00000084073 (Ensembl)

Annotated Interactions

No annotated interactions

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