Details of Disease | DrugMAP

General Information of Disease (ID: DISZ9LUZ)

Disease Name	Paget disease of bone 3
Synonyms	familial Paget disease of bone; Paget disease of bone, familial; PDB3; Paget disease of bone type 3; Paget disease of bone 3
Disease Hierarchy	DISIPS4V: Bone Paget disease DIS9L9IC: SQSTM1-related multisystem proteinopathy DISZ9LUZ: Paget disease of bone 3
Disease Identifiers	MONDO ID MONDO_0008176 UMLS CUI C4085252 OMIM ID 167250 MedGen ID 895927

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
SQSTM1	TTOT2RY	Strong	Autosomal dominant	[1]
SQSTM1	TTOT2RY	Strong	CausalMutation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MRNIP	OTIEU9NH	Strong	CausalMutation	[2]
SQSTM1	OTGY5D5J	Strong	Autosomal dominant	[1]
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References

1	Using epidemiology and genomics to understand osteosarcoma etiology. Sarcoma. 2011;2011:548151. doi: 10.1155/2011/548151. Epub 2011 Mar 8.
2	The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort.Calcif Tissue Int. 2016 May;98(5):489-96. doi: 10.1007/s00223-015-0103-5. Epub 2015 Dec 28.