Rare Diseases Symptoms Automatic Extraction

Role of the natriuretic Peptide system in normal growth and growth disorders.


The C-type natriuretic peptide (CNP) and its receptor (NPR-B) are recognized as important regulators of longitudinal growth. Animal models involving CNP or NPR-B genes (Nppc or Npr2) support the fundamental role of CNP/NPR-B for endochondral ossification. Studies with these animals allow the development of potential drug therapies for dwarfism. Polymorphisms in two genes related to the CNP pathway have been implicated in height variability in healthy individuals. Biallelic loss-of-function mutations in NPR-B gene (NPR2) cause acromesomelic dysplasia type Maroteux, a skeletal dysplasia with extremely short stature. Heterozygous mutations in NPR2 are responsible for nonsyndromic familial short stature. Conversely, heterozygous gain-of-function mutations in NPR2 cause tall stature, with a variable phenotype. A phase 2 multicenter and multinational trial is being developed to evaluate a CNP analog treatment for achondroplasia. Pediatricians and endocrinologists must be aware of growth disorders related to natriuretic peptides, although there is still much to be learned about its diagnostic and therapeutic use. © 2014 S. Karger AG, Basel.

Diseases presenting "loss-of-function mutations" symptom

  • achondroplasia
  • alpha-thalassemia
  • aromatase deficiency
  • child syndrome
  • cowden syndrome
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • familial hypocalciuric hypercalcemia
  • harlequin ichthyosis
  • hirschsprung disease
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • neonatal adrenoleukodystrophy
  • pendred syndrome
  • werner syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated