Details of Disease

General Information of Disease (ID: DISE1F82)

Disease Name	Bone disease
Synonyms	rare bone disease related to a common gene or pathway defect; skeletal disease; disease or disorder of bone element; bone element disease; disease of bone element; disorder of bone element; bone element disease or disorder
Disease Class	FC0Z: Musculoskeletal system/connective tissue disease
Definition	Diseases of bones.
Disease Hierarchy	DISWD40R: Disease DIS5PU87: Skeletal system disorder DISE1F82: Bone disease
ICD Code	ICD-11 ICD-11: FC0Z ICD-10 ICD-10: XIII Expand ICD-11 'FC0Z Expand ICD-10 'XIII
Disease Identifiers	MONDO ID MONDO_0005381 MESH ID D001847 UMLS CUI C0005940 MedGen ID 14182 Orphanet ID 364803 SNOMED CT ID 76069003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
NERIDRONIC ACID	DMMPG5V	Approved	Small molecular drug	[1]
Technetium TC 99M medronate	DMLRK59	Approved	Small molecular drug	[1]
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This Disease is Treated as An Indication in 5 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
HMGB-1 protein and its fragments	DMRFTL9	Phase 3	NA	[2]
Bafetinib	DM7586F	Phase 2	Small molecular drug	[3]
KUR-111	DMZL48U	Phase 2	NA	[4]
MDAB-16	DMFLYPW	Phase 2	NA	[5]
KUR-112	DMF94AK	Phase 1	NA	[6]
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This Disease is Treated as An Indication in 1 Preclinical Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
GW-2592X	DMNAT5V	Preclinical	NA	[7]
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This Disease is Treated as An Indication in 10 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AB-0440a	DMGLPKL	Investigative	NA	[8]
ALSE-100	DMKNH4T	Investigative	NA	[8]
BRX-3	DMYVIAY	Investigative	NA	[8]
HG-1429	DMNMVUQ	Investigative	NA	[8]
HR-004-1	DM3YLBY	Investigative	NA	[8]
PG-1014491	DMH4AKG	Investigative	NA	[9]
TG-D	DM9PPSG	Investigative	NA	[8]
TG-N	DMDUEHL	Investigative	NA	[8]
TGX-003	DM0T4SC	Investigative	NA	[8]
WX-04554	DMCZVYS	Investigative	NA	[8]
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⏷ Show the Full List of 10 Drug(s)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 44 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP2	TTP3IGX	Limited	Biomarker	[10]
CDKN2A	TTFTWQ8	Limited	Biomarker	[11]
CLCN7	TTST1AJ	Limited	Genetic Variation	[12]
ENPP1	TTZTIWS	Limited	Genetic Variation	[13]
ESR1	TTZAYWL	Limited	Biomarker	[14]
RHO	TTH0KSX	Limited	Biomarker	[15]
SEMA3A	TTVKD3S	Limited	Biomarker	[16]
IL11	TTGUYTR	Disputed	Biomarker	[17]
LRP5	TT7VMG4	moderate	Genetic Variation	[18]
VDR	TTK59TV	moderate	Biomarker	[19]
ACVR2A	TTX2DRI	Strong	Biomarker	[20]
ALPL	TTMR5UV	Strong	Genetic Variation	[21]
ANK1	TTKFPMH	Strong	Biomarker	[22]
CCL3	TT8I4WB	Strong	Altered Expression	[23]
CCN1	TTPK79J	Strong	Biomarker	[24]
CLCF1	TTI6V13	Strong	Biomarker	[25]
COASY	TT4YO0Z	Strong	Genetic Variation	[26]
CTNS	TT1W2ZS	Strong	Biomarker	[27]
CTSK	TTDZN01	Strong	Altered Expression	[28]
DKK1	TTE3RAC	Strong	Biomarker	[29]
FDPS	TTIKWV4	Strong	Biomarker	[30]
GBA	TT1B5PU	Strong	Genetic Variation	[31]
GIP	TT40HS5	Strong	Biomarker	[32]
HCRTR1	TT60Q8D	Strong	Altered Expression	[33]
HSPE1	TTWYMFE	Strong	Biomarker	[34]
HTR1B	TTK8CXU	Strong	Biomarker	[35]
IL20	TTNZMY2	Strong	Biomarker	[36]
LRP2	TTPH1AJ	Strong	Biomarker	[37]
MAPKAP1	TTWDKCL	Strong	Biomarker	[38]
MMP2	TTLM12X	Strong	Biomarker	[39]
PKN3	TTW3P4R	Strong	Biomarker	[40]
PTH	TT6F7GZ	Strong	Biomarker	[41]
RGS12	TTP9AV7	Strong	Biomarker	[42]
RUNX2	TTD6SZ8	Strong	Biomarker	[43]
S1PR3	TTDYP7I	Strong	Biomarker	[44]
SPTBN1	TTS9BDA	Strong	Biomarker	[45]
TCIRG1	TTVRN05	Strong	Genetic Variation	[46]
TGFBR2	TTZE3P7	Strong	Biomarker	[47]
TNFRSF11B	TT2CJ75	Strong	Biomarker	[48]
TNFSF11	TT9E8HR	Strong	Biomarker	[49]
TNFSF14	TTKVENM	Strong	Biomarker	[50]
TPH1	TTZSJHV	Strong	Genetic Variation	[35]
TRPV4	TTKP2SU	Strong	Biomarker	[51]
TNFRSF11A	TT3K9S2	Definitive	Altered Expression	[52]
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⏷ Show the Full List of 44 DTT(s)

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC13A1	DTIZEMV	Strong	Genetic Variation	[53]
SLC20A2	DTFD4VB	Strong	Biomarker	[54]
SLC39A13	DTOTKBS	Strong	Biomarker	[55]
SLC39A14	DTZ6IJW	Strong	Biomarker	[56]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ACP5	DESITDW	Strong	Biomarker	[57]
P3H1	DEW527E	Strong	Genetic Variation	[58]
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This Disease Is Related to 64 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FRZB	OTTO3DPY	Limited	Altered Expression	[59]
MIP	OTEBLU3E	Limited	Biomarker	[60]
PLXNB1	OTCA7JIT	moderate	Biomarker	[61]
ADO	OTRLGQ7V	Strong	Genetic Variation	[62]
ALDH7A1	OTV57BZD	Strong	Biomarker	[63]
AMER1	OT8EFJPM	Strong	Genetic Variation	[64]
ANKH	OTCN25R5	Strong	Biomarker	[22]
ANO5	OTOW8R6H	Strong	Genetic Variation	[65]
ASCC2	OT3B204T	Strong	Biomarker	[66]
ASF1A	OT4S44GP	Strong	Biomarker	[67]
ATP6V0A2	OTJBDX0Y	Strong	Genetic Variation	[68]
ATRNL1	OTY5JUX2	Strong	Altered Expression	[69]
BGLAP	OTK1YLWQ	Strong	Biomarker	[70]
BIK	OTTH1T3D	Strong	Genetic Variation	[71]
CD200R1	OT65Q9M6	Strong	Biomarker	[72]
CLDN11	OTNN6UTL	Strong	Biomarker	[73]
CRTAP	OT53H5U6	Strong	Genetic Variation	[58]
DGCR8	OT62LXE4	Strong	Biomarker	[74]
DMP1	OTBWBWW7	Strong	Genetic Variation	[75]
EXT1	OTRPALJK	Strong	Genetic Variation	[76]
EXT2	OT8IR5QN	Strong	Genetic Variation	[76]
GNA13	OTVDL515	Strong	Altered Expression	[77]
GORAB	OTP65YD7	Strong	Genetic Variation	[78]
HBZ	OTMHGFSS	Strong	Biomarker	[79]
HES5	OTW7JEHV	Strong	Altered Expression	[80]
HES6	OTWO5SCF	Strong	Altered Expression	[80]
HGD	OTTKLQOO	Strong	Genetic Variation	[81]
IHH	OT1DWGXC	Strong	Biomarker	[82]
IL17B	OTS86H50	Strong	Biomarker	[36]
INPPL1	OTCDAVBQ	Strong	Biomarker	[83]
IPP	OTCGBS3H	Strong	Biomarker	[84]
JAG1	OT3LGT6K	Strong	Altered Expression	[80]
LRP4	OTO4M459	Strong	Biomarker	[85]
LRP8	OTZ71YV2	Strong	Biomarker	[85]
LRRK1	OTCQMOIX	Strong	Biomarker	[86]
LTBP3	OTME98V7	Strong	Biomarker	[87]
MACF1	OTVIHD77	Strong	Biomarker	[43]
MATN3	OTH9H74J	Strong	Biomarker	[88]
MEPE	OTXJRUW0	Strong	Genetic Variation	[89]
NCOA5	OTOGWTWB	Strong	Biomarker	[67]
NFIL3	OTQH9HM3	Strong	Altered Expression	[90]
NINJ1	OTLRZ1EU	Strong	Altered Expression	[91]
NNAT	OTNRLO7G	Strong	Biomarker	[92]
NRIP1	OTIZOJQV	Strong	Biomarker	[93]
OAS3	OT6E5FYS	Strong	Biomarker	[66]
OPTN	OT2UXWH9	Strong	Genetic Variation	[94]
OSTM1	OTKNJDH7	Strong	Biomarker	[95]
PDLIM3	OTVXQC81	Strong	Altered Expression	[69]
PLS3	OTYBM4PK	Strong	Genetic Variation	[96]
RGS10	OTQ8N1QH	Strong	Biomarker	[97]
RPTOR	OT4TQZ9F	Strong	Biomarker	[38]
SART3	OTC1AM7S	Strong	Biomarker	[66]
SH3BP2	OT90JNBS	Strong	Genetic Variation	[98]
SMR3B	OTL5HNM8	Strong	Altered Expression	[99]
SMURF1	OT5UIZR8	Strong	Biomarker	[100]
SNX10	OT05B7BT	Strong	Altered Expression	[101]
SOSTDC1	OTAKDNSM	Strong	Biomarker	[102]
SP7	OT07ETZT	Strong	Altered Expression	[90]
TNFSF8	OTDYGDJ3	Strong	Biomarker	[103]
TNPO1	OT7W2CM8	Strong	Biomarker	[38]
TRIM9	OTKYG33W	Strong	Biomarker	[104]
TRPS1	OT7XPPEL	Strong	Biomarker	[105]
LEMD3	OTILAM4I	Definitive	Genetic Variation	[106]
PRDM16	OT0BGA27	Definitive	Biomarker	[106]
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⏷ Show the Full List of 64 DOT(s)

References

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36	IL-20 bone diseases involvement and therapeutic target potential.J Biomed Sci. 2018 Apr 24;25(1):38. doi: 10.1186/s12929-018-0439-z.
37	Hypocalcemia and osteopathy in mice with kidney-specific megalin gene defect.FASEB J. 2003 Feb;17(2):247-9. doi: 10.1096/fj.02-0578fje. Epub 2002 Dec 3.
38	New insights in myeloma-induced osteolysis.Leuk Lymphoma. 2003 Sep;44(9):1463-7. doi: 10.3109/10428190309178765.
39	Bisphosphonate-induced osteonecrosis of the jaws, bone markers, and a hypothesized candidate gene.J Oral Maxillofac Surg. 2009 Jan;67(1):159-61. doi: 10.1016/j.joms.2008.09.015.
40	Protein kinase N3 promotes bone resorption by osteoclasts in response to Wnt5a-Ror2 signaling.Sci Signal. 2017 Aug 29;10(494):eaan0023. doi: 10.1126/scisignal.aan0023.
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42	Regulator of G Protein Signaling Protein 12 (Rgs12) Controls Mouse Osteoblast Differentiation via Calcium Channel/Oscillation and Gi-ERK Signaling.J Bone Miner Res. 2019 Apr;34(4):752-764. doi: 10.1002/jbmr.3645. Epub 2019 Jan 28.
43	Deficiency of Macf1 in osterix expressing cells decreases bone formation by Bmp2/Smad/Runx2 pathway.J Cell Mol Med. 2020 Jan;24(1):317-327. doi: 10.1111/jcmm.14729. Epub 2019 Nov 11.
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50	LIGHT/TNFSF14 Promotes Osteolytic Bone Metastases in Non-small Cell Lung Cancer Patients.J Bone Miner Res. 2020 Apr;35(4):671-680. doi: 10.1002/jbmr.3942. Epub 2020 Jan 7.
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70	The Endocrine Function of Osteocalcin Regulated by Bone Resorption: A Lesson from Reduced and Increased Bone Mass Diseases.Int J Mol Sci. 2019 Sep 11;20(18):4502. doi: 10.3390/ijms20184502.
71	Bcl2-interacting killer CpG methylation in multiple myeloma: a potential predictor of relapsed/refractory disease with therapeutic implications.Leuk Lymphoma. 2012 Sep;53(9):1709-13. doi: 10.3109/10428194.2012.661854. Epub 2012 Mar 13.
72	CD200R/CD200 inhibits osteoclastogenesis: new mechanism of osteoclast control by mesenchymal stem cells in human.PLoS One. 2013 Aug 5;8(8):e72831. doi: 10.1371/journal.pone.0072831. Print 2013.
73	Claudin 11 regulates bone homeostasis via bidirectional EphB4-EphrinB2 signaling.Exp Mol Med. 2018 Apr 27;50(4):1-18. doi: 10.1038/s12276-018-0076-3.
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