Details for phenotype: Kallmann syndrome 2

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EndoNet ID: ENP00510

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Name

Kallmann syndrome 2

General information

This phenotype is pathologic

• The Kallmann syndrome combines hypogonadotropic hypogonadism with anosmia. [1]

Links to other resources

GO	regulation of gonadotropin secretion
OMIM	147950
MeSH term	D017436
Disease database	7091

Phenotype triggers

• no activity (knock out experiment or RNAi) of FGFR-1 ui-button
  in brain ui-button
  • Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form Kallmann syndrome 2 with incomplete penetrance. [1]

EndoNet at the Institut for Bioinformatics UMG Göttingen