Details of Disease

General Information of Disease (ID: DISYAE0Y)

• Disease Name: Dysosteosclerosis
• Synonyms: dysosteosclerosis
• Definition: Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.
• Disease Hierarchy:
  DIS7GHNM: Osteopetrosis
  DISYAE0Y: Dysosteosclerosis
• Disease Identifiers:
  MONDO ID: MONDO_0009138
  MESH ID: C562973
  UMLS CUI: C0432262
  OMIM ID: 224300
  MedGen ID: 98150
  Orphanet ID: 1782
  SNOMED CT ID: 254123002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN9A	TT4G2JS	Limited	Biomarker	[1]
TCIRG1	TTVRN05	Supportive	Autosomal recessive	[2]
TNFRSF11A	TT3K9S2	Supportive	Autosomal recessive	[3]
TCIRG1	TTVRN05	Strong	Genetic Variation	[2]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC29A3	DTZAWTH	Supportive	Autosomal recessive	[4]
SLC29A3	DTZAWTH	Strong	Genetic Variation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC29A3	OTGLX8XU	Supportive	Autosomal recessive	[4]
TCIRG1	OTU1AIEW	Supportive	Autosomal recessive	[2]
TNFRSF11A	OT1FISGN	Supportive	Autosomal recessive	[3]

References

• [1] Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet. 2004 Mar;41(3):171-4. doi: 10.1136/jmg.2003.012153.
• [2] Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. Bone. 2019 Mar;120:495-503. doi: 10.1016/j.bone.2018.12.002. Epub 2018 Dec 8.
• [3] Dysosteosclerosis is also caused by TNFRSF11A mutation. J Hum Genet. 2018 Jun;63(6):769-774. doi: 10.1038/s10038-018-0447-6. Epub 2018 Mar 22.
• [4] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.