Familial Partial Lipodystrophy

Preferred Label : Familial Partial Lipodystrophy;

NCIt related terms : Congenital Partial Lipodystrophy;

NCIt definition : An autosomal dominant inherited disorder that appears in childhood or adolescence. It is characterized by loss of adipose tissue in the extremities and accumulation of adipose tissue in the face and neck.;

Alternative definition : NICHD: Partial lipodystrophy, the cause of which is present at birth. Several sub-types of congenital/familial partial lipodystrophy with varying phenotype have been identified. Genes associated with this condition include the LMNA gene, encoding nuclear laminins A and C; the PPARG gene, encoding peroxisome proliferator-activated receptor gamma; the AKT2 gene, encoding RAC-beta serine/threonine-protein kinase, and the PLIN1 gene, encoding perilipin 1.;

Details

Origin ID

C84708;

UMLS CUI

C0271694;

Currated CISMeF NLP mapping
- Familial partial lipodystrophy [ICD-11 More detail]
- Familial partial lipodystrophy [MedDRA Preferred Term]
- Familial partial lipodystrophy [ORDO Disease]
- Familial partial lipodystrophy (disorder) [SNOMED CT concept]
- Lipodystrophy, familial partial [OMIM phenotypic series]
- familial lipodystrophy of limbs and trunk [SNOMED Notion]
- familial partial lipodystrophy [DO Concept]
- familial partial lipodystrophy [Disease (Nov.)]
- lipodystrophy, familial partial [MeSH Descriptor]
- lipodystrophy, familial partial [MeSH concept]
DO Cross reference
- familial partial lipodystrophy [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial partial lipodystrophy [ORDO Disease]
- Familial partial lipodystrophy [MedDRA Preferred Term]
- Familial partial lipodystrophy (disorder) [SNOMED CT concept]
- familial lipodystrophy of limbs and trunk [SNOMED Notion]
- familial partial lipodystrophy [DO Concept]
- familial partial lipodystrophy [Disease (Nov.)]
- lipodystrophy, familial partial [MeSH concept]
- lipodystrophy, familial partial [MeSH Descriptor]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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