Details of Disease | DrugMAP

General Information of Disease (ID: DISS69AL)

Disease Name	Autosomal dominant osteopetrosis
Synonyms	osteopetrosis (disease), autosomal dominant; autosomal dominant osteopetrosis (disease); OPTA
Definition	Autosomal dominant form of osteopetrosis (disease).
Disease Hierarchy	DIS7GHNM: Osteopetrosis DIS3HIWD: Autosomal dominant disease DISS69AL: Autosomal dominant osteopetrosis
Disease Identifiers	MONDO ID MONDO_0020645 UMLS CUI C4272579 MedGen ID 1378401

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN7	TTST1AJ	Strong	Genetic Variation	[1]
LRP5	TT7VMG4	Strong	Genetic Variation	[2]
TCIRG1	TTVRN05	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADO	OTRLGQ7V	Strong	Genetic Variation	[1]
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References

1	Novel CLCN7 mutations cause autosomal dominant osteopetrosis typeII and intermediate autosomal recessive osteopetrosis.Mol Med Rep. 2019 Jun;19(6):5030-5038. doi: 10.3892/mmr.2019.10123. Epub 2019 Apr 3.
2	Genetics of bone diseases: Paget's disease, fibrous dysplasia, osteopetrosis, and osteogenesis imperfecta.Joint Bone Spine. 2011 May;78(3):252-8. doi: 10.1016/j.jbspin.2010.07.010. Epub 2010 Sep 19.
3	A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation.J Pediatr Endocrinol Metab. 2013;26(5-6):575-7. doi: 10.1515/jpem-2013-0007.