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Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

MedGen UID:
1673986
Concept ID:
C5192432
Disease or Syndrome
Synonym: segmental progressive overgrowth syndrome with fibroadipose hyperplasia
SNOMED CT: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (787094005)
 
Monarch Initiative: MONDO:0017812
Orphanet: ORPHA314662

Definition

A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSegmental progressive overgrowth syndrome with fibroadipose hyperplasia

Recent clinical studies

Diagnosis

Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG
Am J Med Genet A 2014 Jul;164A(7):1713-33. Epub 2014 Apr 29 doi: 10.1002/ajmg.a.36552. PMID: 24782230Free PMC Article

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