Rare Diseases Symptoms Automatic Extraction

Recent advances in the study of somatic mosaicism and diseases other than cancer.

[proteus syndrome]

Somatic mosaicism is well appreciated as a cause of cancer and, possibly, aging. Somatic mosaicism as the cause of other diseases is becoming more appreciated. It is especially important in the causation of deforming diseases (e.g., Proteus syndrome; Sturge-Weber syndrome) which are not inherited because early developmental expression is lethal. It also known to make an important contribution to neurological, dermatological, hematological and other diseases (and probably all diseases but many in which it is harder to detect). There have been exciting recent advances in the detection of somatic mosaicism. In particular, for many diseases of somatic overgrowth in which somatic mosaicism as the sole cause was predicted, the gene somatically mutated has been found. A limited number of pathways seem involved in these disorders, some of which are also implicated in cancer.

Diseases presenting "limited number" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • cholangiocarcinoma
  • congenital diaphragmatic hernia
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • liposarcoma
  • neonatal adrenoleukodystrophy
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • trochlear dysplasia
  • well-differentiated liposarcoma
  • werner syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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