Details of Disease

General Information of Disease (ID: DIS1FGN4)

• Disease Name: Osteochondritis dissecans
• Synonyms: short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans; osteochondritis dissecans and short stature; osteochondritis dissecans, short stature, and early-onset osteoarthritis; SSOAOD; familial osteochondritis dissecans; OCD; Konig disease; osteochondritis dissecans (disease); osteochondritis dissecans; Koenig disease; Knig disease; OD
• Definition: A rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.
• Disease Hierarchy:
  DISKV001: Osteonecrosis of genetic origin
  DIS1FGN4: Osteochondritis dissecans
• Disease Identifiers:
  MONDO ID: MONDO_0017178
  MESH ID: D010008
  UMLS CUI: C0029421
  MedGen ID: 10494
  HPO ID: HP:0010886
  Orphanet ID: 2764
  SNOMED CT ID: 82562007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC1A1	TTG2A6F	Limited	Genetic Variation	[1]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DLGAP3	OT0GR2F6	Strong	Biomarker	[2]
SGCE	OT9F17JB	Strong	Genetic Variation	[3]
ACAN	OTUOCW8K	Definitive	Autosomal dominant	[4]
COL9A2	OT1ZBDBV	Definitive	Genetic Variation	[5]
TPSG1	OTDESHKT	Definitive	Genetic Variation	[6]

References

• [1] OCD candidate gene SLC1A1/EAAT3 impacts basal ganglia-mediated activity and stereotypic behavior.Proc Natl Acad Sci U S A. 2017 May 30;114(22):5719-5724. doi: 10.1073/pnas.1701736114. Epub 2017 May 15.
• [2] Sapap3 and pathological grooming in humans: Results from the OCD collaborative genetics study.Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):710-20. doi: 10.1002/ajmg.b.30897.
• [3] Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence.Neurology. 2002 Jan 22;58(2):242-5. doi: 10.1212/wnl.58.2.242.
• [4] Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014 Aug;99(8):E1510-8. doi: 10.1210/jc.2014-1332. Epub 2014 Apr 24.
• [5] A suspected genetic form of bilateral osteochondritis dissecans of the knee in a Dutch family.Knee. 2015 Dec;22(6):677-82. doi: 10.1016/j.knee.2015.05.004. Epub 2015 Jun 27.
• [6] Comparison of neurocognitive domains in patients with schizophrenia with and without co-morbid obsessive compulsive disorder.Schizophr Res. 2018 Nov;201:151-158. doi: 10.1016/j.schres.2018.05.029. Epub 2018 May 29.