Familial Partial Lipodystrophy (FPL)

Alias:
Lipodystrophy, Familial Partial
Kobberling-Dunnigan Syndrome
Fpld
Familial Partial Lipodystrophy, Type 2
Dunnigan-Kobberling Syndrome
Koberling-Dunnigan Syndrome
Dunnigan Syndrome
Fpl
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Partial Lipodystrophy, also known as lipodystrophy, familial partial, is related to lipodystrophy, familial partial, type 1 and lipodystrophy, familial partial, type 6, and has symptoms including myalgia An important gene associated with Familial Partial Lipodystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Metabolism and Signal Transduction. The drugs Chenodeoxycholic acid and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are liver/biliary system and homeostasis/metabolism
Related ID:
MESH:D052496

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Child
1-9/1000000
23
301
4

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top