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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 |
|---|---|---|---|
| 10554 | AGPAT1 | 1-acylglycerol-3-phosphate O-acyltransferase 1 | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 22845 | DOLK | dolichol kinase | |
| 23175 | LPIN1 | lipin 1 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 64132 | XYLT2 | xylosyltransferase 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: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 |
