Details of Disease

General Information of Disease (ID: DISC8H8S)

Disease Name Autosomal dominant osteopetrosis 2
Synonyms
osteopetrosis, autosomal dominant, type 2; marble bones, autosomal dominant; osteosclerosis Fragilis generalisata; Albers-Schonberg disease, autosomal dominant; osteopetrosis, autosomal dominant 2; autosomal dominant osteopetrosis type II; Albers-Schnberg osteopetrosis; osteopetrosis, autosomal dominant type 2; Albers-Schonberg osteopetrosis; osteopetrosis autosomal dominant type 2; autosomal dominant Albers-Schonberg disease; OPTA2; autosomal dominant osteopetrosis type 2
Definition
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
Disease Hierarchy
DISS69AL: Autosomal dominant osteopetrosis
DISC8H8S: Autosomal dominant osteopetrosis 2
Disease Identifiers
MONDO ID
MONDO_0008156
MESH ID
D010022
UMLS CUI
C3179239
OMIM ID
166600
MedGen ID
465707
Orphanet ID
53
SNOMED CT ID
725050005

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 Definitive Autosomal dominant [1]
CLCN7 TTST1AJ Definitive Genetic Variation [2]
TNFSF11 TT9E8HR Definitive Biomarker [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FERMT3 OTFQOT3C Strong Biomarker [4]
CLCN7 OTJVSUK1 Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Interferon Gamma-1b Does Not Increase Markers of Bone Resorption in Autosomal Dominant Osteopetrosis.J Bone Miner Res. 2019 Aug;34(8):1436-1445. doi: 10.1002/jbmr.3715. Epub 2019 May 13.
3 Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet. 2007 Aug;39(8):960-2. doi: 10.1038/ng2076. Epub 2007 Jul 15.
4 Kindlin-3 is essential for integrin activation and platelet aggregation. Nat Med. 2008 Mar;14(3):325-30. doi: 10.1038/nm1722. Epub 2008 Feb 17.