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acquired partial lipodystrophy

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


GARD Rare
Mondo Description Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.
Uniprot Description A rare childhood disease characterized by loss of subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement deficiency. Mental retardation in some cases. APLD is a sporadic disorder of unknown etiology.
Mondo Term and Equivalent IDs
MONDO:0012104:  acquired partial lipodystrophy
GARD:0010509: 
MESH:C562448: 
NCIT:C129723: 
Orphanet:79087: 
SCTID:75659004: 
UMLS:C0220989: