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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital generalized lipodystrophy type 1
Summary
- Synonym
-
- Berardinelli-Seip Congenital Lipodystrophy, Type 1
- Brunzell syndrome AGPAT2-related
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
- Super Class
- congenital generalized lipodystrophy
External Links
- Disease Ontology
- DOID:0111135
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
- 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 | |
| 8540 | AGPS | alkylglycerone phosphate synthase | |
| 9663 | LPIN2 | lipin 2 | |
| 10038 | PARP2 | poly(ADP-ribose) polymerase 2 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001544 | Prominent umbilicus |
| HP:0000065 | Labial hypertrophy |
| HP:0003758 | Reduced subcutaneous adipose tissue |
| HP:0001007 | Hirsutism |
| HP:0003292 | Decreased serum leptin |
| HP:0000325 | Triangular face |
| HP:0001735 | Acute pancreatitis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003716 | Generalized muscular appearance from birth |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
