Rare Diseases Symptoms Automatic Extraction

[Current genetic issues and phenotypic variants in Kallmann syndrome].

[kallmann syndrome]

Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. The hypogonadotropic hypogonadism is due to deficiency of gonadotropin-releasing hormone, caused by a defect in the migration of neurons synthesizing gonadotropin-releasing hormone, and anosmia/hyposmia is related to the absence or hypoplasia of the olfactory bulb and tracts. Some patients may have other associated abnormalities such as renal agenesis, cleft palate, dental agenesis, synkinesis, shortening of metacarpal, sensory neural hearing loss and seizures. The aim of this paper is to present an updated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome.

Diseases presenting "hearing loss" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • benign recurrent intrahepatic cholestasis
  • canavan disease
  • cohen syndrome
  • congenital toxoplasmosis
  • dentinogenesis imperfecta
  • fabry disease
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • kallmann syndrome
  • neonatal adrenoleukodystrophy
  • pendred syndrome
  • von hippel-lindau disease
  • wolf-hirschhorn syndrome

This symptom has already been validated