Details of Disease

General Information of Disease (ID: DISX8E6L)

• Disease Name: Spondyloepimetaphyseal dysplasia, Genevieve type
• Synonyms: SEMD, Genevieve type; SEMD Genevieve type; spondyloepimetaphyseal dysplasia Genevieve type; Nans deficiency; spondyloepimetaphyseal dysplasia, Genevive type; SEMDG; spondyloepimetaphyseal dysplasia, Camera-Genevieve type; SEMD, Genevive type; spondyloepimetaphyseal dysplasia, Genevieve type
• Definition: A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
• Disease Hierarchy:
  DISO4L5A: Spondyloepimetaphyseal dysplasia
  DISX8E6L: Spondyloepimetaphyseal dysplasia, Genevieve type
• Disease Identifiers:
  MONDO ID: MONDO_0012495
  MESH ID: C535785
  UMLS CUI: C1864872
  OMIM ID: 610442
  MedGen ID: 355314
  Orphanet ID: 168454
  SNOMED CT ID: 773303005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NANS	OTMQ2FUH	Strong	Autosomal recessive	[1]

References

• [1] NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23.