Details of Disease

General Information of Disease (ID: DISPG5B0)

• Disease Name: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
• Synonyms: Feom3 locus; CFEOM3A; fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; fibrosis of extraocular muscles, congenital, 3A; congenital fibrosis of extraocular muscles caused by mutation in TUBB3; TUBB3 congenital fibrosis of extraocular muscles
• Definition: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.
• Disease Hierarchy:
  DISFVM5K: TUBB3-related tubulinopathy
  DISE84PU: Congenital fibrosis of extraocular muscles
  DISPG5B0: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
• Disease Identifiers:
  MONDO ID: MONDO_0010912
  MESH ID: C567572
  UMLS CUI: C2748801
  OMIM ID: 600638
  MedGen ID: 412638

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBB3	OTI95VOO	Strong	Autosomal dominant	[1]
KIF21A	OT511XD9	Strong	Biomarker	[2]
PHOX2A	OTVS3R2X	Definitive	Biomarker	[3]

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.
• [2] Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.Neuron. 2014 Apr 16;82(2):334-49. doi: 10.1016/j.neuron.2014.02.038. Epub 2014 Mar 20.
• [3] Familial unilateral Brown syndrome.Ophthalmic Genet. 2002 Sep;23(3):175-84. doi: 10.1076/opge.23.3.175.7882.