Hypogonadotropic hypogonadism 3 with or without anosmia; HH3

Disease ID:466
Name:Hypogonadotropic hypogonadism 3 with or without anosmia; HH3
Associated with:1 target
Synonyms
Kallmann syndrome
Database Links
Disease Ontology: DOID:3614
OMIM: 244200
Orphanet: ORPHA478

Targets

PKR2
Mutations:  PKR2 is associated with 22 mutation. Click here for details

Ligands

No ligand related data available for Hypogonadotropic hypogonadism 3 with or without anosmia; HH3

References

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1. Abreu AP, Noel SD, Xu S, Carroll RS, Latronico AC, Kaiser UB. (2012) Evidence of the importance of the first intracellular loop of prokineticin receptor 2 in receptor function. Mol. Endocrinol., 26 (8): 1417-27. [PMID:22745195]

2. 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]

3. Canto P, Munguía P, Söderlund D, Castro JJ, Méndez JP. (2009) Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. J. Androl., 30 (1): 41-5. [PMID:18723471]

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]

5. Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A et al.. (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet., 2 (10): e175. [PMID:17054399]

6. Monnier C, Dodé C, Fabre L, Teixeira L, Labesse G, Pin JP, Hardelin JP, Rondard P. (2009) PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. Hum. Mol. Genet., 18 (1): 75-81. [PMID:18826963]

7. Sarfati J, Guiochon-Mantel A, Rondard P, Arnulf I, Garcia-Piñero A, Wolczynski S, Brailly-Tabard S, Bidet M, Ramos-Arroyo M, Mathieu M et al.. (2010) A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J. Clin. Endocrinol. Metab., 95 (2): 659-69. [PMID:20022991]

8. Sinisi AA, Asci R, Bellastella G, Maione L, Esposito D, Elefante A, De Bellis A, Bellastella A, Iolascon A. (2008) Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report. Hum. Reprod., 23 (10): 2380-4. [PMID:18596028]

9. Tommiska J, Toppari J, Vaaralahti K, Känsäkoski J, Laitinen EM, Noisa P, Kinnala A, Niinikoski H, Raivio T. (2013) PROKR2 mutations in autosomal recessive Kallmann syndrome. Fertil. Steril., 99 (3): 815-8. [PMID:23200691]