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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital generalized lipodystrophy type 4
Summary
- Synonym
-
- Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
- congenital generalised lipodystrophy type 4
- generalised congenital lipodystrophy type 4
- generalised congenital lipodystrophy with myopathy
- generalized congenital lipodystrophy type 4
- generalized congenital lipodystrophy with myopathy
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
- Super Class
- congenital generalized lipodystrophy
External Links
- Disease Ontology
- DOID:0111138
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0008887 | Adipose tissue loss |
| HP:0000842 | Hyperinsulinemia |
| HP:0002155 | Hypertriglyceridemia |
| HP:0000294 | Low anterior hairline |
| HP:0003247 | Overgrowth of external genitalia |
| HP:0000998 | Hypertrichosis |
| HP:0012062 | Bone cyst |
| HP:0001635 | Congestive heart failure |
| HP:0000147 | Polycystic ovaries |
