Details of Disease

General Information of Disease (ID: DISR9PTZ)

• Disease Name: Spondyloepiphyseal dysplasia with congenital joint dislocations
• Synonyms: Gollop Coates syndrome; SEDCJD; spondyloepiphyseal dysplasia, Omani type; bifurcation of distal humerus with oligoectro-syndactyly; spondyloepiphyseal dysplasia with congenital JOINT dislocations; spondyloepiphyseal dysplasia; chondrodysplasia with multiple dislocations; Omani type; Kozlowski Celermajer tink syndrome; spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type; humero-spinal dysostosis with congenital heart disease; Humerospinal dysostosis; CHST3-related skeletal dysplasia; spondyloepiphyseal dysplasia with congenital joint dislocations; chondrodysplasia with congenital joint dislocations, CHST3 type; SDCD, CHST3 type
• Definition: CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
• Disease Hierarchy:
  DISO5FAY: Inborn error of metabolism
  DIS1JG9A: Spondyloepiphyseal dysplasia
  DISV96AT: Mineral metabolism disease
  DISR9PTZ: Spondyloepiphyseal dysplasia with congenital joint dislocations
• Disease Identifiers:
  MONDO ID: MONDO_0007738
  MESH ID: C535789
  UMLS CUI: C1837657
  OMIM ID: 143095
  MedGen ID: 373381
  Orphanet ID: 263463
  SNOMED CT ID: 702400006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHST3	DEQIZP2	Limited	Genetic Variation	[1]
CHST3	DEQIZP2	Definitive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PANK1	OT2CZVRT	Limited	Genetic Variation	[3]
CHST3	OTCB1Z47	Definitive	Autosomal recessive	[2]

References

• [1] Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.Am J Med Genet A. 2017 Jan;173(1):163-168. doi: 10.1002/ajmg.a.37996. Epub 2016 Oct 18.
• [2] Humero-spinal dysostosis. Pediatr Radiol. 1979 Jul 24;8(3):188-90. doi: 10.1007/BF00973833.
• [3] Familial pediatric rapidly progressive extrapyramidal syndrome: is it Hallervorden-Spatz disease?.Pediatr Neurol. 2003 Aug;29(2):170-2. doi: 10.1016/s0887-8994(03)00231-5.