Lipodystrophy, Partial, Acquired (APLD)

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OMIM 58 608709 ICD10 via Orphanet 35 E88.1 UMLS via Orphanet 75 C0220989 Orphanet 60 ORPHA79087

MedGen 43 C0220989 C3887501 SNOMED-CT via HPO 70 103276001 12068006 128613002 129565002 15188001 197321007 197679002 197940006 228156007 234532001 246545002 247578003 248315005 263681008 29738008 313307000 343087000 34436003 370992007 399939002 442191002 447072005 48606007 52254009 53298000 57676002 62730001 67023009 69878008 73211009 80321008 84757009 85828009 91138005 91175000 95828007 more UMLS 74 C0220989

OMIM : ⁵⁸ Acquired partial lipodystrophy is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities (summary by Misra et al., 2004). The disorder is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1). There is an association between APLD and autoimmune diseases (Misra and Garg, 2003; Misra et al., 2004), and a subset of patients have APLD associated with low serum complement component C3 and the autoantibody C3 nephritic factor, with or without membranoproliferative glomerulonephritis (APLDC3; 613913). Acquired partial lipodystrophy is distinct from inherited forms of partial lipodystrophy, which are metabolic disorders that show clear mendelian inheritance (see, e.g., FPLD1, 608600). (608709)

MalaCards based summary : Lipodystrophy, Partial, Acquired, also known as acquired partial lipodystrophy, is related to lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis and acute promyelocytic leukemia. An important gene associated with Lipodystrophy, Partial, Acquired is LMNB2 (Lamin B2), and among its related pathways/superpathways are Apoptosis and survival Caspase cascade and Gastric Cancer Network 2. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include kidney, ovary and bone, and related phenotypes are lipoatrophy and intellectual disability

NIH Rare Diseases : ⁵⁴ Barraquer-Simons syndrome, or acquired partial lipodystrophy, is characterized by the loss of fat from the face, neck, shoulders, arms, forearms, chest and abdomen. Occasionally the groin or thighs are also affected. Onset usually begins in childhood following a viral illness. It affects females more often than males. The fat loss usually has a 18 month course, but can come and go over the course of several years.  Following puberty, affected women may experience a disproportionate accumulation of fat in the hips and lower limbs. Around 1 in 5 people with this syndrome develop membranoproliferative glomerulonephritis. This kidney condition usually develops more than 10 years after the lipodystrophy's onset. Autoimmune disorders may also occur in association with this syndrome.

UniProtKB/Swiss-Prot : ⁷⁶ Partial acquired lipodystrophy: 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.

Clinical features from OMIM:

608709

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