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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital generalized lipodystrophy type 2
Summary
- Synonym
-
- Berardinelli-Seip congenital lipodystrophy type 2
- Berardinelli-Seip syndrome
- Brunzell syndrome BSCL2-related
- CGL2
- congenital lipoatrophic diabetes
- total lipodystrophy and acromegaloid gigantism
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
- Super Class
- congenital generalized lipodystrophy
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:0001833 | Long foot |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0001176 | Large hands |
| HP:0010465 | Precocious puberty in females |
| HP:0001397 | Hepatic steatosis |
| HP:0000876 | Oligomenorrhea |
| HP:0002240 | Hepatomegaly |
| HP:0000141 | Amenorrhea |
| HP:0001639 | Hypertrophic cardiomyopathy |
