Congenital generalized lipodystrophy (WP5101)

Homo sapiens

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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.

Authors

Ulas Babayigit , Eric Weitz , Friederike Ehrhart , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

congenital generalized lipodystrophy type 4 congenital generalized lipodystrophy congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
Triacylglycerol Metabolite chebi:17855
Phosphatidic acid Metabolite chebi:16337
Diacylglycerol Metabolite chebi:85682
Lysophosphatidic acid Metabolite chembl.compound:ChEMBL117021
IRS1 GeneProduct ensembl:ENSG00000169047
DGAT2 GeneProduct ensembl:ENSG00000062282
PI3K GeneProduct ensembl:ENSG00000121879
DGAT1 GeneProduct ensembl:ENSG00000185000
GPAT3 GeneProduct ensembl:ENSG00000138678
AKT2 GeneProduct ensembl:ENSG00000105221
ITGB4 GeneProduct ensembl:ENSG00000132470
GRB2 GeneProduct ensembl:ENSG00000177885
HIF1A GeneProduct ensembl:ENSG00000100644
CAV1 GeneProduct ensembl:ENSG00000105974
BSCL2 GeneProduct ensembl:ENSG00000168000
FYN GeneProduct ensembl:ENSG00000010810
CAVIN1 GeneProduct ensembl:ENSG00000177469 Also known as PTRF
AGPAT2 GeneProduct ensembl:ENSG00000169692
CAV1 GeneProduct ensembl:ENSG00000105974
CAVIN1 GeneProduct ensembl:ENSG00000177469
LPIN3 GeneProduct ensembl:ENSG00000132793
LPIN2 GeneProduct ensembl:ENSG00000101577
LPIN1 GeneProduct ensembl:ENSG00000134324
INS Protein ensembl:ENSG00000254647 Insulin
Seipin Protein uniprot:F8WER0 Protein of BSCL2
Glycerol-3-phosphate Protein uniprot:A0A024R8I7

References

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