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Autosomal dominant osteopetrosis type 1
1 OMIM reference -
1 associated gene
15 connected diseases
No signs/symptoms info
Disease Type of connection
Idiopathic juvenile osteoporosis
Hyperostosis corticalis generalisata
Familial exudative vitreoretinopathy
Retinopathy of prematurity
Autosomal dominant osteosclerosis, Worth type
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Craniodiaphyseal dysplasia
Sclerosteosis
Coats disease
Heritable pulmonary arterial hypertension
Norrie disease
Persistent hyperplastic primary vitreous
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536056
Gene symbol UniProt reference OMIM reference
LRP5 O75197603506
No signs/symptoms info available.