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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Familial partial lipodystrophy | |
| Synonyms |
FPLD |
|
| Definitions |
A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_98306 |
|
| alternative_term |
FPLD
|
|
| definition |
A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=98306 |
|
| has_age_of_onset |
Adolescent Adult Childhood Elderly
|
|
| has_inheritance |
Autosomal recessive Autosomal dominant
|
|
| hasDbXref |
MeSH:D052496 UMLS:C0271694 MedDRA:10087377
|
|
| label |
Familial partial lipodystrophy
|
|
| notation |
ORPHA:98306 Clinical group
|
|
| prefixIRI |
ORDO:Orphanet_98306
|
|
| prefLabel |
Familial partial lipodystrophy
|
|
| present_in |
Europe AND has_point_prevalence_range : 1-9 / 1 000 000
|
|
| subClassOf |
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