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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 |
|---|---|---|---|
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 952 | CD38 | CD38 molecule | |
| 1650 | DDOST | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | |
| 2218 | FKTN | fukutin | |
| 2517 | FUCA1 | alpha-L-fucosidase 1 | |
| 2719 | GPC3 | glypican 3 | |
| 4023 | LPL | lipoprotein lipase | |
| 5105 | PCK1 | phosphoenolpyruvate carboxykinase 1 | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
- 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 |
