Lipodystrophy, partial, acquired, susceptibility to

Preferred Label : Lipodystrophy, partial, acquired, susceptibility to;

Symbol : APLD;

CISMeF acronym : APLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Apld, susceptibility to; Lipodystrophy, partial, progressive; Lipodystrophy, cephalothoracic type; Barraquer-simons syndrome;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the lamin B2 gene (LMNB2, 150341.0001);

Laboratory abnormalities : Dyslipidemia;

Prefixed ID : #608709;

Details

Origin ID

608709;

UMLS CUI

C3887501;

Automatic exact mappings (from CISMeF team)
- Acquired partial lipodystrophy [ICD-11 Subcategory]
- Automated percutaneous lumbar discectomy (procedure) [SNOMED CT concept]
- Partial lipodystrophy [MedDRA Preferred Term]
- Progressive partial lipodystrophy [MedDRA LLT]
Currated CISMeF NLP mapping
- Acquired Partial Lipodystrophy [NCIt concept]
- Acquired partial lipodystrophy [ORDO Disease]
- Acquired partial lipodystrophy (disorder) [SNOMED CT concept]
- acquired partial lipodystrophy [SNOMED Notion]
- lipodystrophy, partial, acquired [MeSH concept]
- lipodystrophy, partial, acquired [MeSH Supplementary Concept]
False automatic mappings
- Plitidepsin [NCIt concept]
Genes related to phenotype
- Lamin b2 [OMIM gene]
HPO term(s)
- Abnormal circulating lipid concentration [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased serum complement C3 [HPO term]
- Diabetes mellitus [HPO term]
- Hematuria [HPO term]
- Hirsutism [HPO term]
- Isolated cases [HPO term]
- Juvenile onset [HPO term]
- Loss of subcutaneous adipose tissue from upper limbs [HPO term]
- Loss of truncal subcutaneous adipose tissue [HPO term]
- Membranoproliferative glomerulonephritis [HPO term]
- Nephrotic syndrome [HPO term]
- Polycystic ovaries [HPO term]
- Progressive loss of facial adipose tissue [HPO term]
- Proteinuria [HPO term]
- Recurrent infections [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Acquired partial lipodystrophy [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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