Idiopathic localized lipodystrophy

Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc).



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0100578 Lipoatrophy Obligate (100%)
HP:0003758 Reduced subcutaneous adipose tissue Very frequent (99-80%)
HP:0007485 Absence of subcutaneous fat Frequent (79-30%)
HP:0000953 Hyperpigmentation of the skin Occasional (29-5%)
HP:0000989 Pruritus Occasional (29-5%)
HP:0001010 Hypopigmentation of the skin Occasional (29-5%)
HP:0010783 Erythema Occasional (29-5%)
HP:0011123 Inflammatory abnormality of the skin Occasional (29-5%)
HP:0012344 Morphea Very rare (4-1%)
HP:0040189 Scaling skin Very rare (4-1%)
HP:0100324 Scleroderma Very rare (4-1%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID