MCID: CNG047
MIFTS: 40

Congenital Fibrosis of the Extraocular Muscles malady

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

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, 3a and ophthalmoplegia. An important gene associated with Congenital Fibrosis of the Extraocular Muscles is KIF21A (kinesin family member 21A), and among its related pathways are Development Slit Robo signaling and Regulation of CFTR activity norm and CF . The compounds vinblastine sulfate and vinorelbine ditartrate have been mentioned in the context of this disorder. Affiliated tissues include eye.

Wikipedia:65 Congenital fibrosis of the extraocular muscles, or CFEOM, is a class of rare genetic disorders affecting... more...

GeneReviews summary for cfeom

Aliases & Classifications for Congenital Fibrosis of the Extraocular Muscles

About this section
Sources:
21GeneReviews, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
See all sources

Congenital Fibrosis of the Extraocular Muscles, Aliases & Descriptions:

Name: Congenital Fibrosis of the Extraocular Muscles 21 22 23 62
Congenital Fibrosis of Extraocular Muscles 23 49 24 62
Cfeom 21 23 45 62
Congenital Fibrosis Syndrome 23 62
 
General Fibrosis Syndrome 23 62
Fibrosis of Extraocular Muscles, Congenital, 1 62
Congenital External Ophthalmoplegia 23
Feom 49


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

49
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable


External Ids:

Orphanet49 45358
ICD10 via Orphanet28 H49.8

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/GeneDecks gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1fibrosis of extraocular muscles, congenital, 3a30.5TUBB3, FEOM3
2ophthalmoplegia30.1PHOX2A, KIF21A
3tukel syndrome10.5
4strabismus10.5
5kif21a-related congenital fibrosis of the extraocular muscles10.5
6phox2a-related congenital fibrosis of the extraocular muscles10.5
7tubb3-related congenital fibrosis of the extraocular muscles10.5
8congenital fibrosis of the extraocular muscles 1a10.5
9congenital fibrosis of the extraocular muscles 1b10.5
10fibrosis of extraocular muscles, congenital, 110.4
11cerebellar ataxia10.4
12hemangioma10.4
13cavernous hemangioma10.4
14ptosis10.4
15retinitis10.4
16uveitis10.4
17anterior uveitis10.4
18ataxia10.4
19polymicrogyria, symmetric or asymmetric10.3
20aniridia10.3
21fibrosis of extraocular muscles, congenital, 210.3
22fibrosis of extraocular muscles, congenital, 3c10.3
23moebius syndrome10.3
24myopia10.2
25hypotropia10.0
26polymicrogyria10.0
27hypertropia10.0
28cortical dysplasia, complex, with other brain malformations 110.0TUBB3, FEOM3

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

Drug clinical trials:

Search ClinicalTrials for Congenital Fibrosis of the Extraocular Muscles

Search 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

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 34)
idTitleAuthorsYear
1
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. (25347047)
2014
2
Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. (24751811)
2014
3
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
4
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. (24940936)
2014
5
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and MAPbius syndrome. (24715754)
2014
6
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. (23978146)
2013
7
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1. (22699964)
2013
8
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. (22415008)
2013
9
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (22465342)
2012
10
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. (23248547)
2012
11
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. (21264235)
2011
12
Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. (21314337)
2011
13
Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. (21983718)
2011
14
The optic nerve head in congenital fibrosis of the extraocular muscles. (21449832)
2011
15
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. (19896199)
2010
16
Congenital fibrosis of the extraocular muscles. (21120060)
2010
17
Congenital fibrosis of the extraocular muscles. (21217899)
2010
18
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). (21042561)
2010
19
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. (19373680)
2009
20
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
21
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. (18332320)
2008
22
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. (17551929)
2007
23
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. (16939002)
2006
24
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. (16365788)
2005
25
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. (16388177)
2005
26
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. (16157808)
2005
27
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). (15223798)
2004
28
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (15621876)
2004
29
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (14595441)
2003
30
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
31
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (11600883)
2001
32
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. (9683611)
1998
33
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. (8075644)
1994
34
Congenital Fibrosis of the Extraocular Muscles (20301522)
1993

Variations for Congenital Fibrosis of the Extraocular Muscles

About this section

Clinvar genetic disease variations for Congenital Fibrosis of the Extraocular Muscles:

7
id Gene Variation Type Significance SNP ID Assembly Location
1KIF21ANM_001173464.1(KIF21A): c.2860C> T (p.Arg954Trp)single nucleotide variantPathogenicrs121912585GRCh37Chr 12, 39726207: 39726207
2KIF21ANM_001173464.1(KIF21A): c.2861G> A (p.Arg954Gln)single nucleotide variantPathogenicrs121912586GRCh37Chr 12, 39726206: 39726206
3KIF21ANM_001173464.1(KIF21A): c.3029T> C (p.Ile1010Thr)single nucleotide variantPathogenicrs121912587GRCh37Chr 12, 39726038: 39726038
4KIF21ANM_001173464.1(KIF21A): c.1067T> C (p.Met356Thr)single nucleotide variantPathogenicrs121912588GRCh37Chr 12, 39752128: 39752128
5KIF21ANM_001173464.1(KIF21A): c.2839A> G (p.Met947Val)single nucleotide variantPathogenicrs121912589GRCh37Chr 12, 39726410: 39726410
6KIF21ANM_001173464.1(KIF21A): c.2840T> G (p.Met947Arg)single nucleotide variantPathogenicrs121912590GRCh37Chr 12, 39726409: 39726409

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

Pathways related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection38
9.5TUBB2B, TUBB3
2
Show member pathways
9.5TUBB2B, TUBB3
3
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B60
9.5TUBB3, TUBB2B
49.5TUBB2B, TUBB3
5
Show member pathways
9.5TUBB2B, TUBB3
6
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.5TUBB3, TUBB2B
79.5TUBB2B, TUBB3
89.5TUBB2B, TUBB3
99.5TUBB2B, TUBB3
10
Show member pathways
9.5TUBB3, TUBB2B
11
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway60
9.5TUBB2B, TUBB3
12
Show member pathways
9.5TUBB2B, TUBB3

Compounds for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

About this section

Compounds related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vinblastine sulfate618.8FEOM3, TUBB2B, TUBB3
2vinorelbine ditartrate618.7FEOM3, TUBB2B, TUBB3
3docetaxel45 51 61 1311.7FEOM3, TUBB2B, TUBB3
4epothilone b45 61 1310.6TUBB3, TUBB2B, FEOM3
5colchicine45 61 3 30 1312.4FEOM3, TUBB2B, TUBB3

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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:00058719.6KIF16B, KIF21A
2microtubuleGO:00058748.3KIF16B, KIF21A, TUBB2B, TUBB3

Biological processes related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein polymerizationGO:00512589.6TUBB2B, TUBB3
2microtubule-based processGO:00070179.5TUBB2B, TUBB3
3protein foldingGO:00064579.5TUBB2B, TUBB3
4de novo posttranslational protein foldingGO:00510849.4TUBB3, TUBB2B
5microtubule-based movementGO:00070189.3KIF16B, KIF21A

Molecular functions related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule bindingGO:00080179.6KIF16B, KIF21A
2structural constituent of cytoskeletonGO:00052009.2TUBB2B, TUBB3

Products for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Fibrosis of the Extraocular Muscles

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet