Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
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 |
