Details of Disease

General Information of Disease (ID: DIS7LN0X)

• Disease Name: Axial spondylometaphyseal dysplasia
• Synonyms: spondylometaphyseal dysplasia axial type; SmD axial; axial SmD; SMDAX; spondylometaphyseal dysplasia, axial; SmD, axial
• Definition: Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.
• Disease Hierarchy:
  DISDTAJK: Spondylometaphyseal dysplasia
  DISRBNBF: Short rib dysplasia
  DIS7LN0X: Axial spondylometaphyseal dysplasia
• Disease Identifiers:
  MONDO ID: MONDO_0011211
  MESH ID: C535795
  UMLS CUI: C1865695
  OMIM ID: 602271
  MedGen ID: 356065
  Orphanet ID: 168549
  SNOMED CT ID: 771301002

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
NEK1	TTO5QT2	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CFAP410	OTJ94J99	Definitive	Autosomal recessive	[2]

References

• [1] Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.J Hum Genet. 2017 Apr;62(4):503-506. doi: 10.1038/jhg.2016.157. Epub 2017 Jan 26.
• [2] Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016.