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Kallmann syndrome type 2

MIM.147950 KAL2

Tuesday 20 March 2007

Synopsis

- hypogonadotrophic hypogonadism
- anosmia
- mental retardation
- cryptorchidism
- choanal atresia
- congenital heart defect
- Neurosensory hearing loss
- short stature
- cleft lip/palate
- bimanual synkinesia
- multiple dental agenesis

Etiology

- autosomal domimant Kallmann syndrome type 2 (KAL2) is caused by loss of function mutation in the gene encoding fibroblast growth factor receptor-1 (FGFR1) (MIM.136350).

See also

- Kallmann syndromes

  • X-linked Kallmann syndrome (KAL1) (MIM.308700).
  • autosomal Kallmann syndromes
    • KAL2: germline mutation in the FGFR1 (MIM.136350)
    • KAL3 (MIM.244200): germline mutation in the PROKR2 gene (MIM.607123)
    • KAL4 (MIM.610628): germline mutation in the PROK2 gene (MIM.607002)