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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
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UGN5 | Poly [ADP-ribose] polymerase 2 | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001638 | Cardiomyopathy |
| HP:0011463 | Childhood onset |
| HP:0003577 | Congenital onset |
| HP:0000400 | Macrotia |
| HP:0001744 | Splenomegaly |
| HP:0000098 | Tall stature |
| HP:0002591 | Polyphagia |
| HP:0000868 | Decreased fertility in females |
| HP:0003809 | Reduced intrathoracic adipose tissue |
| HP:0001537 | Umbilical hernia |
