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Familial lipodystrophy of limbs AND/OR trunk

disorder
SNOMED 49292002CUI C0271694

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Lipodystrophy, Familial Partial" from the MEDLINE/PubMed database.

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Perilipin 1: a systematic review on its functions on lipid metabolism and atherosclerosis in mice and humans.
[object Object], [object Object], [object Object] et al. · Cardiovasc Res · 2024
PMID: 38214891Meta-Analysis
Clinical Spectrum of-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
[object Object], [object Object], [object Object] et al. · Cells · 2023
PMID: 36899861Meta-AnalysisFull text (PMC)
Efficacy and Safety of Obeticholic Acid for Treating Hepatic Steatosis in Patients With Familial Partial Lipodystrophy.
[object Object], [object Object], [object Object] et al. · J Clin Endocrinol Metab · 2025
PMID: 40080694RCTFull text (PMC)
Diagnosis and Management of Genetic Lipodystrophy Syndromes and its Implications for Atherosclerosis.
[object Object], [object Object], [object Object] · Curr Atheroscler Rep · 2025
PMID: 40358796Review
Navigating Lipodystrophy: Insights from Laminopathies and Beyond.
[object Object], [object Object], [object Object] · Int J Mol Sci · 2024
PMID: 39125589ReviewFull text (PMC)
Partial lipodystrophy: Clinical presentation and treatment.
[object Object], [object Object], [object Object] · Ann Endocrinol (Paris) · 2024
PMID: 38871513Review
Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features.
[object Object], [object Object], [object Object] et al. · Front Endocrinol (Lausanne) · 2024
PMID: 39398333ReviewFull text (PMC)
Gestational and neonatal outcomes of women with partial Dunnigan lipodystrophy.
[object Object], [object Object], [object Object] et al. · Front Endocrinol (Lausanne) · 2024
PMID: 38633761ReviewFull text (PMC)
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2022
PMID: 35440056ReviewFull text (PMC)
Familial partial lipodystrophy syndromes.
[object Object], [object Object], [object Object] et al. · Presse Med · 2021
PMID: 34610417Review

Quick Facts

SNOMED CT
49292002
UMLS CUI
C0271694
Fully Specified Name
Familial partial lipodystrophy (disorder)
Specialists
0
Diagnostic Biomarkers
0
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.