Lipodystrophy, Partial, Acquired (APLD)

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OMIM 57 608709 Orphanet 59 ORPHA79087 UMLS via Orphanet 74 C0220989 ICD10 via Orphanet 34 E88.1

MedGen 42 C3887501 C0220989 SNOMED-CT via HPO 69 263681008 29738008 52254009 69878008 103276001 15188001 343087000 95828007 34436003 53298000 80321008 73211009 48606007 399939002 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 197321007 442191002 234532001 57676002 197940006 85828009 370992007 129565002 248315005 197679002 12068006 447072005 62730001 67023009 more UMLS 73 C0220989

OMIM : ⁵⁷ 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. Affiliated tissues include kidney, ovary and skin, and related phenotypes are intellectual disability and seizures

NIH Rare Diseases : ⁵³ 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 : ⁷⁵ 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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