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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Kallmann Syndrome
Endocrine System Diseases > Gonadal Disorders > Hypogonadism > Kallmann Syndrome
Endocrine System Diseases > Gonadal Disorders > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Kallmann Syndrome
... > Urogenital Diseases > Female Urogenital Diseases and Pregnancy Complications > Female Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Kallmann Syndrome
... > Urogenital Diseases > Male Urogenital Diseases > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Kallmann Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Urogenital Abnormalities > Disorders of Sex Development > Disorder of Sex Development, 46,XY > Kallmann Syndrome

Preferred term

Kallmann Syndrome  

Type

  • mesh:Descriptor

Definition

  • A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. Type 1 is the X-linked form with mutations of gene Kal1 which encodes anosmin-1 protein that plays a key role in the migration of GNRH-containing neurons and olfactory nerves to the HYPOTHALAMUS. Type 2 is an autosomal dominant form with loss-of-function mutations of gene Kal2 which encodes fibroblast growth-factor receptor-1 (FGFR1 PROTEIN).

Broader concept

Related concepts

Synonym(s)

  • Anosmic Hypogonadism
  • Anosmic Idiopathic Hypogonadotropic Hypogonadism
  • Dysplasia Olfactogenitalis of De Morsier
  • Hypogonadotropic Hypogonadism and Anosmia
  • Hypogonadotropic Hypogonadism-Anosmia Syndrome
  • Kallmann's Syndrome

Allowable Qualifier(s)

In other languages

  • Syndrome de Kallmann

    French

  • Dysplasie olfacto-génitale de De Morsier
  • Dysplasie olfacto-génitale de Kallmann-De Morsier
  • Dysplasie olfactogénitale de De Morsier
  • Dysplasie olfactogénitale de Kallmann-De Morsier
  • Syndrome de De Morsier-Kallmann
  • Syndrome de Kallman-De Morsier

URI

http://data.loterre.fr/ark:/67375/JVR-MLCKXF72-M

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RDF/XML TURTLE JSON-LD Created 5/20/92, last modified 6/30/21