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CLCD
MCID: CLD001
MIFTS: 63
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Cleidocranial Dysplasia (CLCD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Cleidocranial Dysplasia:
Characteristics:Orphanet epidemiological data:60
cleidocranial dysplasia
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; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
one third of patients represent new mutations HPO:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Oral diseases
ICD10:
34
35
Orphanet: 60
Rare bone diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
External Ids:
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NIH Rare Diseases
:
54
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.
MalaCards based summary : Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and hypophosphatasia. An important gene associated with Cleidocranial Dysplasia is RUNX2 (Runt Related Transcription Factor 2), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and FGF signaling pathway. Affiliated tissues include bone, eye and myeloid, and related phenotypes are hypertelorism and frontal bossing Disease Ontology : 12 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. Genetics Home Reference : 26 Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family. OMIM : 58 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis. Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder. (119600) UniProtKB/Swiss-Prot : 76 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. Wikipedia : 77 Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly... more... |
Human phenotypes related to Cleidocranial Dysplasia:60 33 (show top 50) (show all 90)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:119600MGI Mouse Phenotypes related to Cleidocranial Dysplasia:47 (show all 16)
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Cochrane evidence based reviews: cleidocranial dysplasia |
MalaCards organs/tissues related to Cleidocranial Dysplasia:42
Bone,
Eye,
Myeloid,
Kidney,
Bone Marrow,
Uterus,
B Cells
The Foundational Model of Anatomy Ontology organs/tissues related to Cleidocranial Dysplasia:20
Skull,
Clavicle
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Articles related to Cleidocranial Dysplasia:(show top 50) (show all 390)
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Genes related to Cleidocranial Dysplasia (1 elite genes):(show all 11) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cleidocranial Dysplasia:76 (show all 47)
ClinVar genetic disease variations for Cleidocranial Dysplasia:6 (show top 50) (show all 165)
Copy number variations for Cleidocranial Dysplasia from CNVD:7
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Search
GEO
for disease gene expression data for Cleidocranial Dysplasia.
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Pathways related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:
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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 41)
Molecular functions related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:
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