Hypogonadotropic hypogonadism 3 with or without anosmia; HH3
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 466 | |
| Name: | Hypogonadotropic hypogonadism 3 with or without anosmia; HH3 | |
| Associated with: | 1 target | |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| PKR2 | |
| Mutations: | PKR2 is associated with 22 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for Hypogonadotropic hypogonadism 3 with or without anosmia; HH3
References
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]
