| Descriptor English: | Lipodystrophy, Congenital Generalized | ||||||
| Descriptor Spanish: |
Lipodistrofia Generalizada Congénita
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| Descriptor Portuguese: | Lipodistrofia Generalizada Congênita | ||||||
| Descriptor French: | Lipodystrophie généralisée congénitale | ||||||
| Entry term(s): |
AGPAT2-Related Brunzell Syndrome BSCL2-Related Brunzell Syndrome Berardinelli Seip Congenital Lipodystrophy Berardinelli Seip Congenital Lipodystrophy Type 1 Berardinelli Seip Congenital Lipodystrophy Type 2 Berardinelli Seip Congenital Lipodystrophy, Type 1 Berardinelli Seip Congenital Lipodystrophy, Type 2 Berardinelli Seip Syndrome Berardinelli Syndrome Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Congenital Lipodystrophy Type 1 Berardinelli-Seip Congenital Lipodystrophy Type 2 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Berardinelli-Seip Congenital Lipodystrophy, Type 2 Berardinelli-Seip Syndrome Brunzell Syndrome Brunzell Syndrome (with Bone Cysts) Brunzell Syndrome, AGPAT2 Related Brunzell Syndrome, AGPAT2-Related Brunzell Syndrome, BSCL2 Related Brunzell Syndrome, BSCL2-Related Congenital Generalized Lipodystrophies Congenital Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 1 Congenital Generalized Lipodystrophy Type 2 Congenital Lipoatrophic Diabete Congenital Lipoatrophic Diabetes Congenital Lipodystrophy, Berardinelli-Seip Diabete, Congenital Lipoatrophic Diabetes, Congenital Lipoatrophic Generalized Lipodystrophies Generalized Lipodystrophies, Congenital Generalized Lipodystrophy Generalized Lipodystrophy, Congenital Lipoatrophic Diabete, Congenital Lipoatrophic Diabetes, Congenital Lipodystrophies, Congenital Generalized Lipodystrophies, Generalized Lipodystrophies, Total Lipodystrophy, Berardinelli-Seip Congenital Lipodystrophy, Berardinelli-Seip Congenital, Type 1 Lipodystrophy, Berardinelli-Seip Congenital, Type 2 Lipodystrophy, Congenital Generalized, Type 1 Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Generalized Lipodystrophy, Total Lipodystrophy, Total, And Acromegaloid Gigantism Seip Syndrome Syndrome, AGPAT2-Related Brunzell Syndrome, BSCL2-Related Brunzell Syndrome, Berardinelli Syndrome, Berardinelli-Seip Syndrome, Brunzell Syndrome, Brunzell (with Bone Cysts) Syndrome, Seip Total Lipodystrophies Total Lipodystrophy Total Lipodystrophy and Acromegaloid Gigantism |
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| Tree number(s): |
C16.320.565.398.745 C17.800.849.391.550 C18.452.584.563.745 C18.452.584.625.550 C18.452.648.398.745 C18.452.880.391.550 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D052497 | ||||||
| Scope note: | Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Lipodystrophy (1968-2006) |
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| Public MeSH Note: | 2007; see DIABETES MELLITUS, LIPOATROPHIC 2005-2006 |
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| History Note: | 2007; use DIABETES MELLITUS, LIPOATROPHIC 2005-2006 |
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| DeCS ID: | 52149 | ||||||
| Unique ID: | D052497 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2007/01/01 | ||||||
| Date of Entry: | 2006/07/05 | ||||||
| Revision Date: | 2013/07/08 |
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Lipodystrophy, Congenital Generalized
- Preferred
Congenital Generalized Lipodystrophy Type 1
- Narrower
Congenital Generalized Lipodystrophy Type 2
- Narrower
| Concept UI |
M0487299 |
| Scope note | Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA. |
| Preferred term | Lipodystrophy, Congenital Generalized |
| Entry term(s) |
Berardinelli Seip Congenital Lipodystrophy Berardinelli Seip Syndrome Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome (with Bone Cysts) Congenital Generalized Lipodystrophies Congenital Generalized Lipodystrophy Congenital Lipodystrophy, Berardinelli-Seip Generalized Lipodystrophies Generalized Lipodystrophies, Congenital Generalized Lipodystrophy Generalized Lipodystrophy, Congenital Lipodystrophies, Congenital Generalized Lipodystrophies, Generalized Lipodystrophies, Total Lipodystrophy, Berardinelli-Seip Congenital Lipodystrophy, Generalized Lipodystrophy, Total Syndrome, Berardinelli-Seip Syndrome, Brunzell (with Bone Cysts) Total Lipodystrophies Total Lipodystrophy |
| Concept UI |
M0487300 |
| Scope note | It is caused by mutations of gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). |
| Preferred term | Congenital Generalized Lipodystrophy Type 1 |
| Entry term(s) |
AGPAT2-Related Brunzell Syndrome Berardinelli Seip Congenital Lipodystrophy Type 1 Berardinelli Seip Congenital Lipodystrophy, Type 1 Berardinelli-Seip Congenital Lipodystrophy Type 1 Berardinelli-Seip Congenital Lipodystrophy, Type 1 Brunzell Syndrome, AGPAT2 Related Brunzell Syndrome, AGPAT2-Related Lipodystrophy, Berardinelli-Seip Congenital, Type 1 Lipodystrophy, Congenital Generalized, Type 1 Syndrome, AGPAT2-Related Brunzell |
| Concept UI |
M0487301 |
| Scope note | It is caused by mutation of gene encoding seipin (BSCL2). |
| Preferred term | Congenital Generalized Lipodystrophy Type 2 |
| Entry term(s) |
BSCL2-Related Brunzell Syndrome Berardinelli Seip Congenital Lipodystrophy Type 2 Berardinelli Seip Congenital Lipodystrophy, Type 2 Berardinelli Syndrome Berardinelli-Seip Congenital Lipodystrophy Type 2 Berardinelli-Seip Congenital Lipodystrophy, Type 2 Brunzell Syndrome Brunzell Syndrome, BSCL2 Related Brunzell Syndrome, BSCL2-Related Congenital Lipoatrophic Diabete Congenital Lipoatrophic Diabetes Diabete, Congenital Lipoatrophic Diabetes, Congenital Lipoatrophic Lipoatrophic Diabete, Congenital Lipoatrophic Diabetes, Congenital Lipodystrophy, Berardinelli-Seip Congenital, Type 2 Lipodystrophy, Congenital Generalized, Type 2 Lipodystrophy, Total, And Acromegaloid Gigantism Seip Syndrome Syndrome, BSCL2-Related Brunzell Syndrome, Berardinelli Syndrome, Brunzell Syndrome, Seip Total Lipodystrophy and Acromegaloid Gigantism |
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