Osteopetrosis, Autosomal Dominant 1 (OPTA1)

Alias:
Autosomal Dominant Osteopetrosis 1
Autosomal Dominant Osteopetrosis Type 1
Opta1
Osteopetrosis Autosomal Dominant Type 1
Osteopetrosis, Autosomal Dominant, Type I
Osteopetrosis, Autosomal Dominant, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteopetrosis, Autosomal Dominant 1, also known as autosomal dominant osteopetrosis 1, is related to osteopetrosis, autosomal dominant 2 and osteopetrosis, autosomal dominant 3, and has symptoms including headache An important gene associated with Osteopetrosis, Autosomal Dominant 1 is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Wnt Pathway and Clock-controlled autophagy in bone metabolism. Affiliated tissues include bone and bone marrow, and related phenotypes are thickened cortex of long bones and torus palatinus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
7
80
11

Medical Symptom

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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

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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
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IF
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