familial partial lipodystrophy type 2

Summary
Synonym
  • FPLD2
  • familial lipodystrophy of limbs and lower trunk
  • familial partial lipodystrophy Dunnigan type
  • reverse partial lipodystrophy
Definition
A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
Super Class
autosomal dominant disease familial partial lipodystrophy
External Links
Disease Ontology
DOID:0070202
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4023 LPL lipoprotein lipase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P06858 Lipoprotein lipase

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024