Rare Diseases Symptoms Automatic Extraction

Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.

[child syndrome]

A fundamental question in developmental biology is how a chimeric animal such as a bilateral gynandromorphic animal can have different phenotypes confined to different lateral body halves, and how mutation-induced phenotypes, such as genetic diseases, can be confined to one lateral body half in patients. Here, I propose that embryos of many, if not all, bilaterian animals are divided into left and right halves at a very early stage (which may vary among different types of animals), after which the descendants of the left-sided and right-sided cells will almost exclusively remain on their original sides, respectively, throughout the remaining development. This embryonic left-right separation mechanism allows (1) mutations and the mutation-induced phenotypes to be strictly confined to one lateral body half in animals and humans; (2) mothers with bilateral hereditary primary breast cancer to transmit their disease to their offspring at twofold of the rate compared to mothers with unilateral hereditary breast cancer; and (3) a mosaic embryo carrying genetic or epigenetic mutations to develop into either an individual with the mutation-induced phenotype confined unilaterally, or a pair of twins displaying complete, partial, or mirror-image discordance for the phenotype. Further, this left-right separation mechanism predicts that the two lateral halves of a patient carrying a unilateral genetic disease can each serve as a case and an internal control, respectively, for genetic and epigenetic comparative studies to identify the disease causations.

Diseases presenting "breast cancer" symptom

  • acute rheumatic fever
  • aromatase deficiency
  • carcinoma of the gallbladder
  • child syndrome
  • cowden syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • esophageal squamous cell carcinoma
  • junctional epidermolysis bullosa
  • kindler syndrome
  • liposarcoma
  • lymphangioleiomyomatosis
  • oral submucous fibrosis
  • proteus syndrome
  • severe combined immunodeficiency
  • systemic capillary leak syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome

This symptom has already been validated