Chondrodysplasia, Blomstrand type; BOCD
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: | 213 | |
| Name: | Chondrodysplasia, Blomstrand type; BOCD | |
| 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.
✖| PTH1 receptor | |
| Comments: |
A G -> A polymorphism at position 1176 has been identified in humans. It results in the deletion of the first 11 amino acids of exon M5 (encoding the fifth transmembrane domain of the receptor), resulting from the use of a novel splice site created by the base substitution. This may be linked to Blomstrand chondrodysplasia (Jobert et al., 1998). A frame-shift mutation resulting from a G nucleotide deletion in position 1122 has been identified in humans and may be linked to Blomstrand chondrodysplasia (Karperian et al., 1999). A homozygous point mutation in exon EL2 occurs in which a G nucleotide is deleted. the resulting frameshift causes a truncated protein exhibiting complete diversion from the wild-type amino acid sequence. A Pro132 -> Leu polymorphism has been identified in humans and may be linked to Blomstrand chondrodysplasia (Hoogendam et al., 2006; Karaplis et al., 1998; Zhang et al., 1998). Other mutations the PTHR1 gene, resulting in different levels of inactivation of the PTH1 receptor, have been linked to Blomstrand chondrodysplasia (Hoogendam et al., 2006). |
| References: | 1-5 |
| Mutations: | PTH1 receptor is associated with 3 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 Chondrodysplasia, Blomstrand type; BOCD
References
1. Hoogendam J, Farih-Sips H, Wynaendts LC, Löwik CW, Wit JM, Karperien M. (2006) Novel mutations in the PTHR1 causing Blomstrand osteochondrodysplasia type I and II. J Clin Endocrinol Metab,: -. [PMID:17164305]
2. Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest, 102 (1): 34-40. [PMID:9649554]
3. Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N. (1998) Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology, 139 (12): 5255-8. [PMID:9832466]
4. Karperien M, van der Harten HJ, van Schooten R, Farih-Sips H, den Hollander NS, Kneppers SL, Nijweide P, Papapoulos SE, Löwik CW. (1999) A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J Clin Endocrinol Metab, 84: 3713-3720. [PMID:10523019]
5. Zhang P, Jobert AS, Couvineau A, Silve C. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab, 83 (9): 3365-8. [PMID:9745456]
