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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
- OMIM
- GARD
- WikiPathways (from TogoID)
