Lipodystrophy, Congenital Generalized
"Lipodystrophy, Congenital Generalized" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.
| Descriptor ID |
D052497
|
| MeSH Number(s) |
C16.320.565.398.745 C17.800.849.391.550 C18.452.584.625.550 C18.452.648.398.745 C18.452.880.391.550
|
| Concept/Terms |
Lipodystrophy, Congenital Generalized- Lipodystrophy, Congenital Generalized
- Congenital Generalized Lipodystrophies
- Generalized Lipodystrophies, Congenital
- Generalized Lipodystrophy, Congenital
- Lipodystrophies, Congenital Generalized
- Berardinelli-Seip Syndrome
- Berardinelli Seip Syndrome
- Syndrome, Berardinelli-Seip
- Brunzell Syndrome (with Bone Cysts)
- Syndrome, Brunzell (with Bone Cysts)
- Generalized Lipodystrophy
- Generalized Lipodystrophies
- Lipodystrophies, Generalized
- Lipodystrophy, Generalized
- Total Lipodystrophy
- Lipodystrophies, Total
- Lipodystrophy, Total
- Total Lipodystrophies
- Berardinelli-Seip Congenital Lipodystrophy
- Berardinelli Seip Congenital Lipodystrophy
- Congenital Lipodystrophy, Berardinelli-Seip
- Lipodystrophy, Berardinelli-Seip Congenital
- Congenital Generalized Lipodystrophy
Congenital Generalized Lipodystrophy Type 1- Congenital Generalized Lipodystrophy Type 1
- Brunzell Syndrome, AGPAT2-Related
- AGPAT2-Related Brunzell Syndrome
- Brunzell Syndrome, AGPAT2 Related
- Syndrome, AGPAT2-Related Brunzell
- Lipodystrophy, Berardinelli-Seip Congenital, Type 1
- Lipodystrophy, Congenital Generalized, Type 1
- Berardinelli-Seip Congenital Lipodystrophy Type 1
- Berardinelli Seip Congenital Lipodystrophy Type 1
- Berardinelli-Seip Congenital Lipodystrophy, Type 1
- Berardinelli Seip Congenital Lipodystrophy, Type 1
Congenital Generalized Lipodystrophy Type 2- Congenital Generalized Lipodystrophy Type 2
- Berardinelli-Seip Congenital Lipodystrophy Type 2
- Berardinelli Seip Congenital Lipodystrophy Type 2
- Berardinelli-Seip Congenital Lipodystrophy, Type 2
- Berardinelli Seip Congenital Lipodystrophy, Type 2
- Brunzell Syndrome
- Syndrome, Brunzell
- Congenital Lipoatrophic Diabetes
- Congenital Lipoatrophic Diabete
- Diabete, Congenital Lipoatrophic
- Diabetes, Congenital Lipoatrophic
- Lipoatrophic Diabete, Congenital
- Brunzell Syndrome, BSCL2-Related
- BSCL2-Related Brunzell Syndrome
- Brunzell Syndrome, BSCL2 Related
- Syndrome, BSCL2-Related Brunzell
- Lipodystrophy, Berardinelli-Seip Congenital, Type 2
- Lipodystrophy, Congenital Generalized, Type 2
- Lipodystrophy, Total, And Acromegaloid Gigantism
- Seip Syndrome
- Syndrome, Seip
- Total Lipodystrophy and Acromegaloid Gigantism
- Berardinelli Syndrome
- Syndrome, Berardinelli
- Lipoatrophic Diabetes, Congenital
|
Below are MeSH descriptors whose meaning is more general than "Lipodystrophy, Congenital Generalized".
- Diseases [C]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipodystrophy, Congenital Generalized [C16.320.565.398.745]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Skin Diseases, Metabolic [C17.800.849]
- Lipodystrophy [C17.800.849.391]
- Lipodystrophy, Congenital Generalized [C17.800.849.391.550]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Lipid Metabolism Disorders [C18.452.584]
- Lipodystrophy [C18.452.584.625]
- Lipodystrophy, Congenital Generalized [C18.452.584.625.550]
- Metabolism, Inborn Errors [C18.452.648]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipodystrophy, Congenital Generalized [C18.452.648.398.745]
- Skin Diseases, Metabolic [C18.452.880]
- Lipodystrophy [C18.452.880.391]
- Lipodystrophy, Congenital Generalized [C18.452.880.391.550]
Below are MeSH descriptors whose meaning is more specific than "Lipodystrophy, Congenital Generalized".
This graph shows the total number of publications written about "Lipodystrophy, Congenital Generalized" by people in this website by year, and whether "Lipodystrophy, Congenital Generalized" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2008 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Lipodystrophy, Congenital Generalized" by people in Profiles.
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A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy J Clin Res Pediatr Endocrinol. 2019 09 03; 11(3):319-326.
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Clinical Features and Management of Non-HIV-Related Lipodystrophy in Children: A Systematic Review. J Clin Endocrinol Metab. 2017 Feb 01; 102(2):363-374.
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A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome. PLoS One. 2015; 10(7):e0131797.
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Molecular mechanisms underlying fasting modulated liver insulin sensitivity and metabolism in male lipodystrophic Bscl2/Seipin-deficient mice. Endocrinology. 2014 Nov; 155(11):4215-25.
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An unusual presentation of a vascular birthmark: a focal area of congenital lipoatrophy on the buttock. J Plast Reconstr Aesthet Surg. 2010 Apr; 63(4):e376-9.
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The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Endocrinology. 2009 Oct; 150(10):4552-61.
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Berardinelli-Seip syndrome in a 6-year-old boy. Indian J Dermatol Venereol Leprol. 2008 Nov-Dec; 74(6):644-6.