[From gene to disease; hypogonatrophic hypogonadism and anosmia: Kallmann's syndrome].
Kallmann's syndrome is a genetic condition characterised by hypogonadotrophic hypogonadism and anosmia; additional neurological and non-neurological symptoms may also occur depending on the specific mode of inheritance. Mode of inheritance can be X-linked (KAL-1), autosomal dominant (KAL-2) or autosomal recessive (KAL-3), although unrelated sporadic cases occur more frequently. The gene responsible for the X-linked form, namely KAL-1, and its encoded protein anosmin-1 have been identified for some time. Very recently the gene responsible for the autosomal dominant form was also identified. KAL-2 is caused by loss-of-function mutations in the gene encoding fibroblast growth-factor receptor-1 (FGFR1).
Voorhoeve
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VU Medisch Centrum, afd. Kindergeneeskunde, Postbus 7057, 1007 MB Amsterdam.
Delemarre-van de Waal
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HA
D016326:Extracellular Matrix Proteins / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D017436:Kallmann Syndrome / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D000857:Olfaction Disorders / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1