Details of Disease

General Information of Disease (ID: DISBVYYI)

• Disease Name: Spinal muscular atrophy with congenital bone fractures 1
• Synonyms: spinal muscular atrophy type 1 with congenital bone fractures; SMA1 with congenital bone fractures; TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures; spinal muscular atrophy with congenital bone fractures 1; prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4; spinal muscular atrophy, type I, with congenital bone fractures; spinal muscular atrophy with congenital bone fractures type 1; SMABF1
• Definition: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.
• Disease Hierarchy:
  DIS9A4XL: Prenatal-onset spinal muscular atrophy with congenital bone fractures
  DISBVYYI: Spinal muscular atrophy with congenital bone fractures 1
• Disease Identifiers:
  MONDO ID: MONDO_0014806
  UMLS CUI: C4225177
  OMIM ID: 616866
  MedGen ID: 896011

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
TRIP4	OTA8OASA	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.