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MCID: LPD019
MIFTS: 43
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Lipodystrophy, Partial, Acquired
Categories:
Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases
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MalaCards integrated aliases for Lipodystrophy, Partial, Acquired:
Characteristics:Orphanet epidemiological data:59
acquired partial lipodystrophy
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype onset in first or second decade more common in females (male:female ratio 4:1) no family history, de novo mutations association with autoimmune diseases HPO:32
lipodystrophy, partial, acquired:
Onset and clinical course phenotypic variability juvenile onset Inheritance autosomal dominant inheritance sporadic Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Cardiovascular diseases
ICD10:
34
Orphanet: 59
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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OMIM
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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. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:608709Human phenotypes related to Lipodystrophy, Partial, Acquired:59 32 (show all 28)
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Drugs for Lipodystrophy, Partial, Acquired (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:(show all 13)
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MalaCards organs/tissues related to Lipodystrophy, Partial, Acquired:41
Kidney,
Ovary,
Skin,
Bone,
Bone Marrow
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Articles related to Lipodystrophy, Partial, Acquired:(show all 21)
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Genes related to Lipodystrophy, Partial, Acquired (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Partial, Acquired:75
ClinVar genetic disease variations for Lipodystrophy, Partial, Acquired:6
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Search
GEO
for disease gene expression data for Lipodystrophy, Partial, Acquired.
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