Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital generalized lipodystrophy type 3
Summary
- Synonym
-
- Berardinelli-Seip congenital lipodystrophy type 3
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
- Super Class
- congenital generalized lipodystrophy
External Links
- Disease Ontology
- DOID:0111137
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 6319 | SCD | stearoyl-CoA desaturase | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 9663 | LPIN2 | lipin 2 | |
| 10038 | PARP2 | poly(ADP-ribose) polymerase 2 | |
| 10554 | AGPAT1 | 1-acylglycerol-3-phosphate O-acyltransferase 1 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000303 | Mandibular prognathia |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0001015 | Prominent superficial veins |
| HP:0009125 | Lipodystrophy |
| HP:0001394 | Cirrhosis |
| HP:0000855 | Insulin resistance |
| HP:0002162 | Low posterior hairline |
| HP:0011407 | Proportionate tall stature |
| HP:0001249 | Intellectual disability |
| HP:0008665 | Clitoral hypertrophy |
