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Disease Ontology Browser
familial partial lipodystrophy type 4 (DOID:0070205)
Alliance: disease page
Synonyms: familial partial lipodystrophy associated with PLIN1 mutations; FPLD4; PLIN1-related familial partial lipodystrophy; PLIN1-related FPLD
Alt IDs: OMIM:613877, ORDO:280356
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/24/2023
MGI 6.22
The Jackson Laboratory