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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital generalized lipodystrophy type 3
Summary
- Synonym
-
- Berardinelli-Seip congenital lipodystrophy type 3
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
- Super Class
- congenital generalized lipodystrophy
External Links
- Disease Ontology
- DOID:0111137
- Mondo Disease Ontology
- OMIM
- 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
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000303 | Mandibular prognathia |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0001015 | Prominent superficial veins |
| HP:0009125 | Lipodystrophy |
| HP:0001394 | Cirrhosis |
| HP:0000855 | Insulin resistance |
| HP:0002162 | Low posterior hairline |
| HP:0011407 | Proportionate tall stature |
| HP:0001249 | Intellectual disability |
| HP:0008665 | Clitoral hypertrophy |
