MCID: CNG047
MIFTS: 33

Congenital Fibrosis of the Extraocular Muscles malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Aliases & Classifications for Congenital Fibrosis of the Extraocular Muscles

About this section
Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Congenital Fibrosis of the Extraocular Muscles:

Name: Congenital Fibrosis of the Extraocular Muscles 21 23 65
Congenital Fibrosis of Extraocular Muscles 45 22 23 51 24
Cfeom 21 22 23 47
Feom 45 51
 
Congenital External Ophthalmoplegia 23
Congenital Fibrosis Syndrome 23
General Fibrosis Syndrome 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable


External Ids:

Orphanet51 45358
ICD10 via Orphanet28 H49.8

Summaries for Congenital Fibrosis of the Extraocular Muscles

About this section
Genetics Home Reference:23 Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may be misaligned such that they look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, many people with congenital fibrosis of the extraocular muscles have droopy eyelids (ptosis), which further limits their vision.

MalaCards based summary: Congenital Fibrosis of the Extraocular Muscles, also known as congenital fibrosis of extraocular muscles, is related to fibrosis of extraocular muscles, congenital, 2 and kif21a-related congenital fibrosis of the extraocular muscles. An important gene associated with Congenital Fibrosis of the Extraocular Muscles is TUBB3 (Tubulin, Beta 3 Class III), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Cell cycle_Spindle assembly and chromosome separation. Affiliated tissues include eye and brain.

Wikipedia:68 Congenital fibrosis of the extraocular muscles, or CFEOM, is a class of rare genetic disorders affecting... more...

GeneReviews summary for cfeom

Related Diseases for Congenital Fibrosis of the Extraocular Muscles

About this section

Diseases in the Congenital Fibrosis of the Extraocular Muscles family:

Fibrosis of Extraocular Muscles, Congenital, 5 Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis of Extraocular Muscles, Congenital, 1 Fibrosis of Extraocular Muscles, Congenital, 3c
Fibrosis of Extraocular Muscles, Congenital, 3a Kif21a-Related Congenital Fibrosis of the Extraocular Muscles
Phox2a-Related Congenital Fibrosis of the Extraocular Muscles Tubb3-Related Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 1a Congenital Fibrosis of the Extraocular Muscles 1b

Diseases related to Congenital Fibrosis of the Extraocular Muscles via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1fibrosis of extraocular muscles, congenital, 230.3KIF21A, PHOX2A
2kif21a-related congenital fibrosis of the extraocular muscles10.6
3phox2a-related congenital fibrosis of the extraocular muscles10.6
4tubb3-related congenital fibrosis of the extraocular muscles10.6
5congenital fibrosis of the extraocular muscles 1a10.6
6congenital fibrosis of the extraocular muscles 1b10.6
7tukel syndrome10.5
8strabismus10.5
9cerebellar ataxia10.4
10fibrosis of extraocular muscles, congenital, 110.4
11fibrosis of extraocular muscles, congenital, 3a10.4
12hemangioma10.4
13cavernous hemangioma10.4
14ptosis10.4
15retinitis10.4
16uveitis10.4
17anterior uveitis10.4
18ataxia10.4
19polymicrogyria, symmetric or asymmetric10.3
20aniridia10.3
21moebius syndrome10.3
22myopia10.2
23paranasal sinus cancer10.1KIF21A, PHOX2A
24external ear carcinoma10.1KIF21A, PHOX2A
25amino acid metabolic disorder10.1KIF21A, TUBB3
26ohdo syndrome10.1KIF21A, PHOX2A
27pulmonary blastoma10.1KIF21A, PHOX2A
28fibrosis of extraocular muscles, congenital, 3c10.0
29hypotropia10.0
30ophthalmoplegia10.0
31polymicrogyria10.0
32cranial nerve iii tumor10.0KIF21A, PHOX2A
33hypertropia10.0
34acute cor pulmonale10.0KIF21A, PHOX2A, TUBB3
35struma ovarii10.0KIF21A, PHOX2A, TUBB3
36ptosis, congenital9.9COL25A1, KIF21A
37opiate dependence9.9KIF21A, PHOX2A
38congenital hepatic fibrosis8.8COL25A1, KANK1, KIF16B, KIF21A, PHOX2A, TUBB2B

Graphical network of the top 20 diseases related to Congenital Fibrosis of the Extraocular Muscles:



Diseases related to congenital fibrosis of the extraocular muscles

Symptoms for Congenital Fibrosis of the Extraocular Muscles

About this section

Drugs & Therapeutics for Congenital Fibrosis of the Extraocular Muscles

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Congenital Fibrosis of the Extraocular Muscles

Genetic Tests for Congenital Fibrosis of the Extraocular Muscles

About this section

Genetic tests related to Congenital Fibrosis of the Extraocular Muscles:

id Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles22 24 TUBB3

Anatomical Context for Congenital Fibrosis of the Extraocular Muscles

About this section

MalaCards organs/tissues related to Congenital Fibrosis of the Extraocular Muscles:

33
Eye, Brain

Animal Models for Congenital Fibrosis of the Extraocular Muscles or affiliated genes

About this section

Publications for Congenital Fibrosis of the Extraocular Muscles

About this section

Articles related to Congenital Fibrosis of the Extraocular Muscles:

(show all 35)
idTitleAuthorsYear
1
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. (26186732)
2015
2
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. (25347047)
2014
3
Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. (24751811)
2014
4
Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles. (24426772)
2014
5
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. (24940936)
2014
6
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and MAPbius syndrome. (24715754)
2014
7
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. (23978146)
2013
8
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1. (22699964)
2013
9
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. (22415008)
2013
10
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (22465342)
2012
11
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. (23248547)
2012
12
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. (21264235)
2011
13
Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. (21314337)
2011
14
Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. (21983718)
2011
15
The optic nerve head in congenital fibrosis of the extraocular muscles. (21449832)
2011
16
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. (19896199)
2010
17
Congenital fibrosis of the extraocular muscles. (21120060)
2010
18
Congenital fibrosis of the extraocular muscles. (21217899)
2010
19
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). (21042561)
2010
20
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. (19373680)
2009
21
A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. (19559006)
2009
22
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. (18332320)
2008
23
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. (17551929)
2007
24
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. (16939002)
2006
25
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. (16365788)
2005
26
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. (16388177)
2005
27
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. (16157808)
2005
28
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). (15223798)
2004
29
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (15621876)
2004
30
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (14595441)
2003
31
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. (11882252)
2002
32
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (11600883)
2001
33
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. (9683611)
1998
34
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. (8075644)
1994
35
Congenital Fibrosis of the Extraocular Muscles (20301522)
1993

Variations for Congenital Fibrosis of the Extraocular Muscles

About this section

Expression for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

About this section
Search GEO for disease gene expression data for Congenital Fibrosis of the Extraocular Muscles.

Pathways for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

About this section

GO Terms for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

About this section

Cellular components related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:00058719.6KIF16B, KIF21A
2protein complexGO:00432349.1TUBB2B, TUBB3, YWHAQ
3microtubuleGO:00058748.1KIF16B, KIF21A, TUBB2B, TUBB3

Biological processes related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:00070179.9TUBB2B, TUBB3
2de novo posttranslational protein foldingGO:00510849.7TUBB2B, TUBB3
3protein polymerizationGO:00512589.6TUBB2B, TUBB3
4microtubule-based movementGO:00070189.2KIF16B, KIF21A

Molecular functions related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:00052009.6TUBB2B, TUBB3
2microtubule motor activityGO:00037778.9KIF16B, KIF21A

Sources for Congenital Fibrosis of the Extraocular Muscles

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet