Cleidocranial Dysplasia malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Cleidocranial Dysplasia:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/100000 (United States); Age of onset: Neonatal; Age of death: normal life expectancy
Inheritance: autosomal dominant inheritance
Penetrance: pathogenic variants in runx2 have a high penetrance and extreme variability...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Oral diseases
ICD10: 30 29
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
NIH Rare Diseases:47 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. Last updated: 4/7/2016
MalaCards based summary: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and central core disease, and has symptoms including hypertelorism, micrognathia and abnormality of the clavicle. An important gene associated with Cleidocranial Dysplasia is RUNX2 (Runt Related Transcription Factor 2), and among its related pathways are TGF Beta Signaling Pathway and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include clavicle, skull and bone, and related mouse phenotypes are no phenotypic analysis and respiratory system.
Disease Ontology:11 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.
UniProtKB/Swiss-Prot:69 Cleidocranial dysplasia: 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.
Genetics Home Reference:25 Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.
OMIM:51 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia... (119600) more...
Wikipedia:70 Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a congenital disorder, that... more...
GeneReviews for NBK1513
Human phenotypes related to Cleidocranial Dysplasia:63 53 (show all 95)
MalaCards organs/tissues related to Cleidocranial Dysplasia:35
Bone, Eye, Myeloid, Kidney, Uterus, B cells
FMA organs/tissues related to Cleidocranial Dysplasia:17
MGI Mouse Phenotypes related to Cleidocranial Dysplasia:40 (show all 16)
Articles related to Cleidocranial Dysplasia:(show top 50) (show all 282)
UniProtKB/Swiss-Prot genetic disease variations for Cleidocranial Dysplasia:69 (show all 45)
Clinvar genetic disease variations for Cleidocranial Dysplasia:5 (show all 13)
Copy number variations for Cleidocranial Dysplasia from CNVD:6
Search GEO for disease gene expression data for Cleidocranial Dysplasia.
Pathways related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:
Cellular components related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:
Biological processes related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:(show all 39)
Molecular functions related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet