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Infantile Osteopetrosis with Neuroaxonal Dysplasia

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Infantile Osteopetrosis with Neuroaxonal Dysplasia is related to osteopetrosis and infantile neuroaxonal dystrophy. An important gene associated with Infantile Osteopetrosis with Neuroaxonal Dysplasia is OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1). Affiliated tissues include bone and brain, and related phenotypes are seizure and agenesis of corpus callosum
Related ID：
MALACARDS：INF132

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
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2
20
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INF132

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
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References Literature

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