Craniometaphyseal Dysplasia, Autosomal Dominant (CMDD)

Alias:
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
Related Drugs
Disease Model
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Child
<1/1000000
33
315
42

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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