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
familial partial lipodystrophy type 4
Summary
- Synonym
-
- FPLD4
- PLIN1-related FPLD
- PLIN1-related familial partial lipodystrophy
- familial partial lipodystrophy associated with PLIN1 mutations
- Definition
- A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26.
- Super Class
- autosomal dominant disease familial partial lipodystrophy
External Links
- Disease Ontology
- DOID:0070205
- Mondo Disease Ontology
- ORDO
- GARD
- WikiPathways (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60240 | Perilipin-1 |
