loading...| Preferred Name |
Familial Partial Lipodystrophy |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84708 |
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| ALT_DEFINITION |
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. |
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| code |
C84708 |
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| Contributing_Source |
NICHD |
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| 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. |
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| in_subset | ||
| label |
Familial Partial Lipodystrophy |
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| Preferred_Name |
Familial Partial Lipodystrophy |
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| prefixIRI |
NCIT:C84708 |
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| prefLabel |
Familial Partial Lipodystrophy |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0271694 |
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| subClassOf |