Details of Disease

General Information of Disease (ID: DISD179V)

• Disease Name: Multiple synostoses syndrome 1
• Synonyms: deafness-symphalangism syndrome of Herrmann; symphalangism-brachydactyly syndrome; facioaudiosymphalangism syndrome; Wl syndrome; symphalangism brachydactyly syndrome; SYNS1; synostoses, multiple, with brachydactyly; synostoses multiple with brachydactyly; nog multiple synostoses syndrome; NOG multiple synostoses syndrome; multiple synostoses syndrome caused by mutation in NOG; multiple synostoses syndrome 1; multiple synostoses syndrome caused by mutation in nog; multiple synostoses syndrome type 1
• Definition: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.
• Disease Hierarchy:
  DISGA3UA: Multiple synostoses syndrome
  DISEOUIO: NOG-related symphalangism spectrum disorder
  DISD179V: Multiple synostoses syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0008519
  MESH ID: C536943
  UMLS CUI: C0342282
  OMIM ID: 186500
  MedGen ID: 90977

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
GDF5	TT37XV9	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGF9	OT2SKDGM	Strong	Biomarker	[2]
NOG	OTGRHHPG	Definitive	Autosomal dominant	[3]

References

• [1] GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet. 2006 Apr;78(4):708-12. doi: 10.1086/503204. Epub 2006 Feb 24.
• [2] A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.Hum Mol Genet. 2017 Apr 1;26(7):1280-1293. doi: 10.1093/hmg/ddx029.
• [3] Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Clin Genet. 2001 Dec;60(6):447-51. doi: 10.1034/j.1399-0004.2001.600607.x.