Brittle Bone Disorder (OI)

Alias:
Osteogenesis Imperfecta
Brittle Bone Disease
Fragilitas Ossium
Lobstein Disease
Oi
Glass Bone Disease
Lobstein's Disease
Osteopsathyrosis
Osteogenesis Imperfecta, Recessive Perinatal Lethal
Osteogenesis Imperfecta, Dominant Perinatal Lethal
White Blue Sclera - Fragility of Bone - Deafness
Blue Sclera with Fragility of Bone and Deafness
Oi - [osteogenesis Imperfecta]
Brittle Bone Syndrome
Osteitis Fragilitans
Lobstein's Syndrome
Vrolik's Disease
Ossium Fragility
Vrolik Disease
Bony Fragility
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brittle Bone Disorder, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta, type ii, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Brittle Bone Disorder is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways/superpathways are Pleural mesothelioma and Collagen chain trimerization. The drugs Pamidronic acid and Alendronic acid have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and gait disturbance
Related ID:
MESH:D010013
ICD11:1219932551

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
All ages
1-9/1000000
143
1576
283

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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