Details of Disease

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]
------------------------------------------------------------------------------------
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]
------------------------------------------------------------------------------------

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.