Details of Disease | DrugMAP

General Information of Disease (ID: DISH0G7D)

Disease Name	Autosomal dominant osteopetrosis 1
Synonyms	osteopetrosis autosomal dominant type 1; osteopetrosis, autosomal dominant 1; osteopetrosis, autosomal dominant, type 1; LRP5 osteopetrosis (disease); OPTA1; osteopetrosis (disease) caused by mutation in LRP5; autosomal dominant osteopetrosis type 1; osteopetrosis, autosomal dominant type 1
Definition	Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
Disease Hierarchy	DISS69AL: Autosomal dominant osteopetrosis DIS7GHNM: Osteopetrosis DISH0G7D: Autosomal dominant osteopetrosis 1
Disease Identifiers	MONDO ID MONDO_0011877 MESH ID C536056 UMLS CUI C1843330 OMIM ID 607634 MedGen ID 335932 Orphanet ID 2783 SNOMED CT ID 1264041000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LRP5	TT7VMG4	Strong	Biomarker	[1]
LRP5	TT7VMG4	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRP5	OTCC4JPH	Definitive	Autosomal dominant	[2]
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References

1	Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome.Genet Test Mol Biomarkers. 2017 Dec;21(12):742-746. doi: 10.1089/gtmb.2017.0118. Epub 2017 Nov 13.
2	Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar;72(3):763-71. doi: 10.1086/368277. Epub 2003 Feb 10.