Cleidocranial Dysplasia 1 (CLCD1)

Cleidocranial Dysplasia 1(来自ICD-11)
别称:
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
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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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参考文献
MALACARDS
AD
Newborn
1-9/1000000
40
817
51

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