Top ▲

Normosmic congenital hypogonadotropic hypogonadism

Disease ID:701
Name:Normosmic congenital hypogonadotropic hypogonadism
Associated with:2 targets
Database Links
Orphanet: ORPHA432


GnRH1 receptor
Comments:  A number of inactivating single nucleotide polymorphisms have been identified in the human GnRH receptor gene, resulting in complete loss of ligand binding, receptor-mediated signalling or reduced receptor expression. Defects in GnRHR are a cause of hypogonadotropic hypogonadism (HH).
References:  2
Mutations:  PKR2 is associated with 6 mutation. Click here for details


No ligand related data available for Normosmic congenital hypogonadotropic hypogonadism


Show »

1. Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC. (2008) Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab, 93 (10): 4113-8. [PMID:18682503]

2. Bédécarrats GY, Kaiser UB. (2007) Mutations in the human gonadotropin-releasing hormone receptor: insights into receptor biology and function. Semin Reprod Med, 25 (5): 368-78. [PMID:17710733]

3. Chan YM, de Guillebon A, Lang-Muritano M, Plummer L, Cerrato F, Tsiaras S, Gaspert A, Lavoie HB, Wu CH, Crowley Jr WF et al.. (2009) GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. Proc Natl Acad Sci USA, 106 (28): 11703-8. [PMID:19567835]

4. Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ et al.. (2008) Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. J Clin Endocrinol Metab, 93 (9): 3551-9. [PMID:18559922]