Details of Disease

General Information of Disease (ID: DISH640Y)

• Disease Name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
• Definition: Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
• Disease Hierarchy:
  DIS4W06G: Collagenopathy
  DIS8I9FS: Hereditary disorder of connective tissue
  DIS5FZLR: Multiple epiphyseal dysplasia
  DISH640Y: Multiple epiphyseal dysplasia due to collagen 9 anomaly
• Disease Identifiers:
  MONDO ID: MONDO_0015627
  UMLS CUI: C4707798
  MedGen ID: 1647610
  Orphanet ID: 166002
  SNOMED CT ID: 766717008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL9A1	OTWBR27Y	Supportive	Autosomal dominant	[1]
COL9A2	OT1ZBDBV	Supportive	Autosomal dominant	[1]
COL9A3	OTCUJOEK	Supportive	Autosomal dominant	[1]

References

• [1] Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [updated 2019 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.