Table 1. Current List of Genes Associated with Only Kallmann Syndrome.
| Gene and protein (alternative names) |
OMIM | Known biological activity | Reversible | Oligogenicity | Inheritance |
|---|---|---|---|---|---|
|
ANOS1(KAL1) (anosmin-1) |
300836 | Extracellular matrix protein modulating FGFR1 and integrin signaling. Guidance molecule for GnRH neuronal migration and survival. | Yes | Yes | X-linked recessive |
|
FEZF1 (FEZ family zinc finger 1) |
613301 | Zinc finger-containing transcriptional repressor regulating the development of forebrain and neo-cortex. GnRH neuronal migration and survival. | ND | ND | Autosomal recessive |
|
HESX1 (homeobox gene expressed in ES cells 1) |
182230 | Transcription repressor for homeodomain-containing genes. Also involved in combined pituitary hormone deficiency and septo-optic dysplasia. | ND | ND | Autosomal recessive/dominant |
|
IL17RD(SEF) (interleukin 17 receptor D) |
606807 | Negative regulator and interactant of FGFR1. | ND | Yes | Autosomal dominant |
|
SEMA3A (semaphorin-3A) |
614897 | Guidance molecule for GnRH neuronal migration and axonal pathfinding. | ND | Yes | Autosomal dominant |
|
SOX10 (SRY-related HMG-box 10) |
602229 | Related to testis-determining transcription factor SRY. Regulate neural crest development. Also involved in Waardenburg-Shah syndrome. | ND | ND | Autosomal dominant |
OMIM, Online Mendelian Inheritance in Man; FGFR1, fibroblast growth factor receptor 1; GnRH, gonadotrophin-releasing hormone; ND, not determined; SRY, sex-determining region Y.