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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital generalized lipodystrophy type 2
Summary
- Synonym
-
- Berardinelli-Seip congenital lipodystrophy type 2
- Berardinelli-Seip syndrome
- Brunzell syndrome BSCL2-related
- CGL2
- congenital lipoatrophic diabetes
- total lipodystrophy and acromegaloid gigantism
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
- Super Class
- congenital generalized lipodystrophy
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: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 |
