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cleidocranial dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.
Uniprot Description Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies.
Disease Ontology Description An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.
Mondo Term and Equivalent IDs
MONDO:0007340:  cleidocranial dysplasia
GARD:0006118: 
MESH:D002973: 
NCIT:C75020: 
Orphanet:1452: 
SCTID:65976001: 
UMLS:C0008928: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)