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Familial partial lipodystrophy, Dunnigan type

ORPHA:2348 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(10)

  • Aplasia/Hypoplasia of the skinHP:0008065
  • Diabetes mellitusHP:0000819
  • HepatomegalyHP:0002240
  • HypertriglyceridemiaHP:0002155
  • Insulin resistanceHP:0000855
  • LipoatrophyHP:0100578
  • LipodystrophyHP:0009125
  • Round faceHP:0000311
  • Skeletal muscle hypertrophyHP:0003712
  • XanthomatosisHP:0000991

Frequent (79-30%)(6)

  • Abnormal nail morphologyHP:0001597
  • Advanced eruption of teethHP:0006288
  • AtherosclerosisHP:0002621
  • Loss of subcutaneous adipose tissue in limbsHP:0003635
  • Secondary amenorrheaHP:0000869
  • Thin skinHP:0000963

Occasional (29-5%)(18)

  • Abnormality of complement systemHP:0005339
  • Abnormality of skeletal muscle fiber sizeHP:0012084
  • Acanthosis nigricansHP:0000956
  • CellulitisHP:0100658
  • Congestive heart failureHP:0001635
  • Coronary artery atherosclerosisHP:0001677
  • Cranial nerve paralysisHP:0006824
  • DysmenorrheaHP:0100607
  • EclampsiaHP:0100601
  • Generalized hirsutismHP:0002230
  • GlomerulopathyHP:0100820
  • Hepatic steatosisHP:0001397
  • Hypertrophic cardiomyopathyHP:0001639
  • MyalgiaHP:0003326
  • MyopathyHP:0003198
  • PancreatitisHP:0001733
  • Polycystic ovariesHP:0000147
  • SplenomegalyHP:0001744