Craniometaphyseal Dysplasia, Autosomal Dominant (CMDD)

Craniometaphyseal Dysplasia, Autosomal Dominant(来自ICD-11)
别称:
Craniometaphyseal Dysplasia
Autosomal Dominant Craniometaphyseal Dysplasia
Craniometaphyseal Dysplasia, Jackson Type
Cmdd
Cmdj
Cmd
Craniometaphyseal Dysplasia, Autosomal Recessive Type
Dysplasia, Craniometaphyseal, Autosomal Dominant
Autosomal Recessive Craniometaphyseal Dysplasia
Craniometaphyseal Dysplasia Jackson Type
Cmdr
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Craniometaphyseal Dysplasia, Autosomal Dominant, also known as craniometaphyseal dysplasia, is related to craniometaphyseal dysplasia, autosomal recessive and cartilage disease. An important gene associated with Craniometaphyseal Dysplasia, Autosomal Dominant is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator), and among its related pathways/superpathways are PAK Pathway and Extracellular matrix organization. The drugs Vaccines and Poly ICLC have been mentioned in the context of this disorder. Affiliated tissues include bone and brain, and related phenotypes are craniofacial hyperostosis and depressed nasal bridge
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参考文献
MALACARDS
AR
AD
Child
<1/1000000
33
315
42

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