Details of Disease

General Information of Disease (ID: DISE84PU)

• Disease Name: Congenital fibrosis of extraocular muscles
• Synonyms: fibrosis of extraocular muscles, congenital, 1; fibrosis of extraocular muscles, congenital, 3B; Feom1 locus; blepharoptosis with absent eye movements; ophthalmoplegia, congenital; CFEOM1; Tukel syndrome; Congenital Fibrosis of the Extraocular Muscles; fibrosis of extraocular muscles, congenital; congenital fibrosis of the extraocular muscles; fibrosis of extraocular muscles, congenital, type 1; FEOM
• Disease Hierarchy:
  DISEEIHX: Ocular motility disease
  DISRFD52: Myopathy of extraocular muscle
  DISV66YX: Progressive muscular dystrophy
  DISE84PU: Congenital fibrosis of extraocular muscles
• Disease Identifiers:
  MONDO ID: MONDO_0007614
  MESH ID: C580012
  UMLS CUI: C1302995
  MedGen ID: 724506
  HPO ID: HP:0001491
  Orphanet ID: 45358
  SNOMED CT ID: 400946004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TUBB2B	OTJ2OTQT	Supportive	Autosomal dominant	[1]
TUBB3	OTI95VOO	Supportive	Autosomal dominant	[2]
GRHL2	OT3LF27F	Limited	Unknown	[3]
PHOX2A	OTVS3R2X	Supportive	Autosomal dominant	[2]
ECEL1	OTJ6GNUP	Strong	Genetic Variation	[4]
FRMD7	OTJ11849	Strong	Genetic Variation	[5]
KANK1	OT2E7A6W	Strong	Genetic Variation	[6]
KIF16B	OTDWIFQ2	Strong	Genetic Variation	[7]
MAP1B	OTVXW089	Strong	Biomarker	[8]
MYF5	OTTVO2S5	Strong	Genetic Variation	[9]
KIF21A	OT511XD9	Definitive	Autosomal dominant	[10]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRHL2	TTUGH4C	Limited	Unknown	[3]

References

• [1] An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet. 2012 Dec 15;21(26):5484-99. doi: 10.1093/hmg/dds393. Epub 2012 Sep 21.
• [2] Congenital Fibrosis of the Extraocular Muscles Overview. 2004 Apr 27 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [3] 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.
• [4] The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.J AAPOS. 2014 Aug;18(4):362-7. doi: 10.1016/j.jaapos.2014.03.005.
• [5] Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.Arch Ophthalmol. 2011 Jul;129(7):936-40. doi: 10.1001/archophthalmol.2011.166.
• [6] A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane.Biochem Biophys Res Commun. 2009 Sep 4;386(4):639-44. doi: 10.1016/j.bbrc.2009.06.109. Epub 2009 Jun 24.
• [7] A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Mbius syndrome.Mol Vis. 2014 Mar 28;20:368-75. eCollection 2014.
• [8] 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.
• [9] Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.Am J Hum Genet. 2018 Jul 5;103(1):115-124. doi: 10.1016/j.ajhg.2018.05.003. Epub 2018 Jun 7.
• [10] 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.