Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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Preferred Name

PPARG-related familial partial lipodystrophy
Synonyms

FPLD3
Definitions

A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.
ID

http://www.orpha.net/ORDO/Orphanet_79083
alternative_term

FPLD3

PPARG-related FPLD

Familial partial lipodystrophy type 3
definition

A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083
has_age_of_onset

Adult
has_inheritance

Autosomal dominant
hasDbXref

UMLS:C1720861

ICD-10:E88.1

OMIM:604367

ICD-11:5A44
label

PPARG-related familial partial lipodystrophy
notation

ORPHA:79083
part_of

http://www.orpha.net/ORDO/Orphanet_98306
prefixIRI

ORDO:Orphanet_79083
prefLabel

PPARG-related familial partial lipodystrophy
present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 10.0 (Case)
treeView

http://www.orpha.net/ORDO/Orphanet_98306
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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