Atypical Lipodystrophy

Common Name(s)

Atypical Lipodystrophy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Atypical Lipodystrophy" for support, advocacy or research.

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Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

Last Updated: 30 Nov 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Atypical Lipodystrophy" for support, advocacy or research.

Logo
Lipodystrophy United

​Lipodystrophy United is an organization of committed individuals living strong with Lipodystrophy. Our mission is to provide an interactive community, facilitating support & education for anyone affected by this rare disease. We serve as a resource & to increase awareness in the general population as well as the medical & insurance communities. We advocate & act as a catalyst for new patient diagnosis by assisting healthcare professionals in understanding Lipodystrophy trends, physical attributes & clinical symptoms in order to aid in the advancement of knowledge, treatment & future research.

http://www.lipodystrophyunited.org/

Last Updated: 30 Nov 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Atypical Lipodystrophy" returned 3 free, full-text research articles on human participants. First 3 results:

Premature atherosclerosis in a Japanese diabetic patient with atypical familial partial lipodystrophy and hypertriglyceridemia.
 

Author(s): Masanori Iwanishi, Ken Ebihara, Toru Kusakabe, Shinji Harada, Jun Ito-Kobayashi, Atsushi Tsuji, Kiminori Hosoda, Kazuwa Nakao

Journal: Intern. Med.. 2012 ;51(18):2573-9.

 

We herein report a case of premature atherosclerosis in a patient with familial partial lipodystrophy (FPL), diabetes mellitus, hypertension and hypertriglyceridemia. Sequencing of the candidate genes LMNA, PPARG and CAV1 associated with FPL revealed no genetic abnormalities, which ...

Last Updated: 19 Sep 2012

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Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.
 

Author(s): Yin Liu, Yuval Ramot, Antonio Torrelo, Amy S Paller, Nuo Si, Sofia Babay, Peter W Kim, Afzal Sheikh, Chyi-Chia Richard Lee, Yongqing Chen, Angel Vera, Xue Zhang, Raphaela Goldbach-Mansky, Abraham Zlotogorski

Journal: Arthritis Rheum.. 2012 Mar;64(3):895-907.

 

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome) is an autoinflammatory syndrome recently described in children. We undertook this study to investigate the clinical phenotype, genetic cause, and immune dysregulation in 9 CANDLE syndrome patients.

Last Updated: 29 Feb 2012

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Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.
 

Author(s): Henian Cao, Lindsay Alston, Jennifer Ruschman, Robert A Hegele

Journal:

 

Mice with a deleted Cav1 gene encoding caveolin-1 develop adipocyte abnormalities and insulin resistance. From genomic DNA of patients with atypical lipodystrophy and hypertriglyceridemia who had no mutations in any known lipodystrophy gene, we used DNA sequence analysis to screen ...

Last Updated: 28 Mar 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Atypical Lipodystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes
 

Status: Available

Condition Summary: Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE); Juvenile Dermatomyositis (JDM); Stimulator of Interferon Genes (STING)-Associated Vasculitis With Onset in Infancy (SAVI)

 

Last Updated: 29 Jul 2014

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