Csf1r-Related Brain Malformation and Osteopetrosis

Alias:
Osteoporosis and Infantile Neuroaxonal Dystrophy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Csf1r-Related Brain Malformation and Osteopetrosis, is also known as osteoporosis and infantile neuroaxonal dystrophy. An important gene associated with Csf1r-Related Brain Malformation and Osteopetrosis is PDE11A (Phosphodiesterase 11A), and among its related pathways/superpathways is Phospholipase-C Pathway. Affiliated tissues include brain, and related phenotype is vision/eye.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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3
22
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Medical Symptom

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

Gene & Mutation

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Mutations
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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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PMID
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