Hypogonadotropic hypogonadism 8 with or without anosmia; HH8
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: | 468 | |
| Name: | Hypogonadotropic hypogonadism 8 with or without anosmia; HH8 | |
| Associated with: | 1 target | |
Targets
GtoPdb Disease Summaries - Targets
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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.
✖| kisspeptin receptor | |
| Comments: |
Splicing of exon 5 of the kisspeptin receptor results in a non-functional receptor and reduced FSH and LH secretion. This results in idiopathic hypogonadotrophic hypogonadism (IHH). The deletion of the splicing acceptor junction and part of exon 5 leads to an abnormal protein sequence downstream from residue 247. The deleted receptor is truncated within the third intracellular loop, thus lacking transmembrane domains 6 and 7 (de Roux et al., 2003). Single nucleotide polymorphisms. Genetic linkage analysis identified a consanguineous family with IHH with a mutation in the kisspeptin receptor gene (L148S) and an unrelated proband with two mutations (R331X and X399R) resulting in the same phenotype (Seminara et al., 2003). A C223R mutation in the 5th transmembrane helix and an R297L mutation in the 3rd extracellular loop have been found in human IHH patients. The former results in impaired receptor signalling and the latter results in a mild reduction in ligand-stimulated activity (Semple et al., 2005). |
| References: | 1-3 |
| Mutations: | kisspeptin receptor is associated with 6 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
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- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
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- 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 8 with or without anosmia; HH8
References
1. de Roux N, Genin E, Carel JC, Matsuda F, Chaussain JL, Milgrom E. (2003) Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54. Proc Natl Acad Sci USA, 100 (19): 10972-6. [PMID:12944565]
2. Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno Jr JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG et al.. (2003) The GPR54 gene as a regulator of puberty. N Engl J Med, 349 (17): 1614-27. [PMID:14573733]
3. Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'rahilly S, Aparicio SA. (2005) Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism. J Clin Endocrinol Metab, 90 (3): 1849-55. [PMID:15598687]
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