Details of Disease

General Information of Disease (ID: DIS60EOE)

• Disease Name: Hyperostosis
• Synonyms: hypertrophy of bone (morphologic abnormality); hypertrophy of bone; bone hypertrophy
• Definition: Excessive thickening of bone.
• Disease Hierarchy:
  DIS90YV3: Bone remodeling disease
  DIS60EOE: Hyperostosis
• Disease Identifiers:
  MONDO ID: MONDO_0002185
  MESH ID: D015576
  UMLS CUI: C0020492
  MedGen ID: 9366
  HPO ID: HP:0100774
  SNOMED CT ID: 203514008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PTH	TT6F7GZ	Limited	Biomarker	[1]
SOST	TTYRO4F	Strong	Biomarker	[2]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A14	DTZ6IJW	Strong	Biomarker	[3]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMPR1A	OTQOA4ZH	Disputed	Genetic Variation	[4]
AMER1	OT8EFJPM	Strong	Biomarker	[5]
EXT2	OT8IR5QN	Strong	Genetic Variation	[6]
GALNT3	OT7M67WT	Strong	Genetic Variation	[7]
LEMD3	OTILAM4I	Strong	Genetic Variation	[8]

References

• [1] Carcinogenicity in rats of the SGLT2 inhibitor canagliflozin.Chem Biol Interact. 2014 Dec 5;224:1-12. doi: 10.1016/j.cbi.2014.09.018. Epub 2014 Oct 5.
• [2] Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models.Metabolism. 2018 Mar;80:38-47. doi: 10.1016/j.metabol.2017.10.005. Epub 2017 Oct 25.
• [3] Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.PLoS Genet. 2018 Apr 5;14(4):e1007321. doi: 10.1371/journal.pgen.1007321. eCollection 2018 Apr.
• [4] Differential involvement of Wnt signaling in Bmp regulation of cancellous versus periosteal bone growth.Bone Res. 2017 Jun 6;5:17016. doi: 10.1038/boneres.2017.16. eCollection 2017.
• [5] Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion.Am J Med Genet A. 2013 Mar;161A(3):594-9. doi: 10.1002/ajmg.a.35716. Epub 2013 Feb 7.
• [6] Abrogation of heparan sulfate synthesis in Drosophila disrupts the Wingless, Hedgehog and Decapentaplegic signaling pathways.Development. 2004 May;131(9):1927-38. doi: 10.1242/dev.01061. Epub 2004 Mar 31.
• [7] Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.BMC Genet. 2014 Sep 24;15:98. doi: 10.1186/s12863-014-0098-3.
• [8] The Role of the Nuclear Envelope Protein MAN1 in Mesenchymal Stem Cell Differentiation.J Cell Biochem. 2017 Dec;118(12):4425-4435. doi: 10.1002/jcb.26096. Epub 2017 Jul 31.