KEGG DISEASE: Congenital fibrosis of the extraocular muscles

DISEASE: Congenital fibrosis of the extraocular muscles

Entry

H00838                      Disease

Name

Congenital fibrosis of the extraocular muscles

Description

Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Several clinical phenotypes for familial CFEOM have been delineated.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Strabismus or ocular motility disorders
   9C82  Disorders of extraocular muscles
    H00838  Congenital fibrosis of the extraocular muscles
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H00838  Congenital fibrosis of the extraocular muscles

Pathway

hsa04145

Phagosome

hsa04540

Gap junction

Network

nt06515 Regulation of kinetochore-microtubule interactions

Gene

(CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K24185]
(CFEOM2) PHOX2A [HSA:401] [KO:K09330]
(CFEOM3A) TUBB3 [HSA:10381] [KO:K07375]
(CFEOM5) COL25A1 [HSA:84570] [KO:K24356]

Other DBs

ICD-11:

9C82.2

ICD-10:

H49.8

MeSH:

C580012

OMIM:

135700 602078 600638 616219

Reference

PMID:21217899

Authors

Cooymans P, Al-Zuhaibi S, Al-Senawi R, Ganesh A

Title

Congenital fibrosis of the extraocular muscles.

Journal

Oman J Ophthalmol 3:70-4 (2010)
DOI:10.4103/0974-620X.64230

Reference

PMID:18214786

Authors

Heidary G, Engle EC, Hunter DG

Title

Congenital fibrosis of the extraocular muscles.

Journal

Semin Ophthalmol 23:3-8 (2008)
DOI:10.1080/08820530701745181

Reference

PMID:20074521

Authors

Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC

Title

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Journal

Cell 140:74-87 (2010)
DOI:10.1016/j.cell.2009.12.011

Reference

PMID:25500261

Authors

Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N

Title

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.

Journal

Am J Hum Genet 96:147-52 (2015)
DOI:10.1016/j.ajhg.2014.11.006

LinkDB

» Japanese version

DBGET integrated database retrieval system