Details of Disease

General Information of Disease (ID: DISEOUIO)

• Disease Name: NOG-related symphalangism spectrum disorder
• Synonyms: NOG-SSD
• Definition: An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion.|Lumping the subtypes described above into one disease entity is justified by the common molecular mechanism, overlapping variants, and variable phenotypic spectrum within families and among families with the same mutation. The term NOG-SSD aids in the clinical diagnosis and evaluation of affected individuals.
• Disease Hierarchy:
  DIS4CD9E: Symphalangism
  DIS3HIWD: Autosomal dominant disease
  DISEOUIO: NOG-related symphalangism spectrum disorder

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
NOG	OTGRHHPG	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.