Details of Disease

General Information of Disease (ID: DISXDBD8)

Disease Name Osteopoikilosis
Synonyms spotted bones; osteopathia condensans disseminata; osteopoikilosis (disease); osteopoikilosis
Definition A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.
Disease Hierarchy
:
DISXDBD8: Osteopoikilosis
Disease Identifiers
MONDO ID
MONDO_0001414
MESH ID
D010023
UMLS CUI
C0029455
MedGen ID
45251
HPO ID
HP:0010739
SNOMED CT ID
9147009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HMGA2 TTSTVM0 moderate Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GZMH OTG3259L moderate Biomarker [2]
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References

1 Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.Am J Med Genet A. 2017 Jul;173(7):1922-1930. doi: 10.1002/ajmg.a.38253. Epub 2017 Apr 13.
2 Bone imaging findings in genetic and acquired lipodystrophic syndromes: an imaging study of 24 cases.Skeletal Radiol. 2016 Nov;45(11):1495-506. doi: 10.1007/s00256-016-2457-9. Epub 2016 Sep 8.