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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Congenital generalized lipodystrophy | |
| Synonyms |
Berardinelli-Seip syndrome BSCL CGL Berardinelli-Seip congenital lipodystrophy Lipoatrophic diabetes |
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| Definitions |
A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_528 |
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| alternative_term |
Berardinelli-Seip syndrome BSCL CGL Berardinelli-Seip congenital lipodystrophy Lipoatrophic diabetes
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|
| definition |
A rare autosomal recessive form of lipodystrophy characterized by the association of generalized lipoatrophy with acromegaloid features, muscle hypertrophy, insulin resistance, hypertriglyceridemia, and liver steatosis.
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| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=528 |
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| has_age_of_onset |
Neonatal
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|
| has_inheritance |
Autosomal recessive
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| hasDbXref |
OMIM:606721 OMIM:608594 OMIM:612526 MeSH:D052497 OMIM:613327 ICD-11:LD27.60 UMLS:C0221032 ICD-10:E88.1 MedDRA:10024603 OMIM:269700
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| label |
Congenital generalized lipodystrophy
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|
| notation |
ORPHA:528
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| part_of |
http://www.orpha.net/ORDO/Orphanet_181368 http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_98305 |
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| prefixIRI |
ORDO:Orphanet_528
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|
| prefLabel |
Congenital generalized lipodystrophy
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|
| present_in |
Brazil AND has_birth_prevalence_average_value : 3.23 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.01 AND has_point_prevalence_range : <1 / 1 000 000 Turkey AND has_point_prevalence_average_value : 0.05 AND has_point_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000
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| treeView |
http://www.orpha.net/ORDO/Orphanet_181368 http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_363245 http://www.orpha.net/ORDO/Orphanet_98305 |
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| subClassOf |
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