Cleidocranial Dysplasia 1 (CLCD1)

Alias:
Cleidocranial Dysplasia
Cleidocranial Dysostosis
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly
Clcd1
Clcd
Ccd
Dysplasia, Cleidocranial
Dento-Osseous Dysplasia
Marie-Sainton Syndrome
Marie-Sainton Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cleidocranial Dysplasia 1, also known as cleidocranial dysplasia, is related to parietal foramina with cleidocranial dysplasia and trichodentoosseous syndrome. An important gene associated with Cleidocranial Dysplasia 1 is RUNX2 (RUNX Family Transcription Factor 2), and among its related pathways/superpathways are Gene expression (Transcription) and TGF-beta receptor signaling in skeletal dysplasias. Affiliated tissues include bone and bone marrow, and related phenotypes are frontal bossing and skeletal dysplasia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
1-9/1000000
40
817
51

Medical Symptom

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Description
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HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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