CFEOM
MCID: CNG047
MIFTS: 37

Congenital Fibrosis of the Extraocular Muscles (CFEOM) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Congenital Fibrosis of the Extraocular Muscles

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Genetics Home Reference:21 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 CFEOM, is related to congenital fibrosis of the extraocular muscles 3a and congenital fibrosis of the extraocular muscles 3b. An important gene associated with Congenital Fibrosis of the Extraocular Muscles is KIF21A (kinesin family member 21A). The compounds vinorelbine ditartrate and vinblastine sulfate 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

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Congenital Fibrosis of the Extraocular Muscles, Aliases & Descriptions:

Name: Congenital Fibrosis of the Extraocular Muscles 19 20 22 21 62
Cfeom 19 21 44 62
Congenital Fibrosis of Extraocular Muscles 21 62
Congenital Fibrosis Syndrome 21 62
 
General Fibrosis Syndrome 21 62
Fibrosis of Extraocular Muscles, Congenital, 1 62
Congenital External Ophthalmoplegia 21


Classifications:

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


Related Diseases for Congenital Fibrosis of the Extraocular Muscles

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Diseases in the Fibrosis of Extraocular Muscles, Congenital, 1 family:

congenital fibrosis of the extraocular muscles 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
Congenital Fibrosis of the Extraocular Muscles 3a Congenital Fibrosis of the Extraocular Muscles 3b
Congenital Fibrosis of the Extraocular Muscles 2 Congenital Fibrosis of the Extraocular Muscles 4
Congenital Fibrosis of the Extraocular Muscles 3c

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1congenital fibrosis of the extraocular muscles 3a30.7TUBB3, FEOM3
2congenital fibrosis of the extraocular muscles 3b10.6
3congenital fibrosis of the extraocular muscles 210.6
4congenital fibrosis of the extraocular muscles 410.6
5congenital fibrosis of the extraocular muscles 3c10.6
6strabismus10.5
7kif21a-related congenital fibrosis of the extraocular muscles10.5
8phox2a-related congenital fibrosis of the extraocular muscles10.5
9tubb3-related congenital fibrosis of the extraocular muscles10.5
10congenital fibrosis of the extraocular muscles 1a10.5
11congenital fibrosis of the extraocular muscles 1b10.5
12cerebellar ataxia10.4
13hemangioma10.4
14noonan syndrome10.4
15cavernous hemangioma10.4
16retinitis10.4
17uveitis10.4
18anterior uveitis10.4
19ataxia10.4
20fibrosis of extraocular muscles, congenital, 110.4
21aniridia10.3
22myopia10.2
23kearns-sayre syndrome10.1KIF21A, PHOX2A
24hypotropia10.0
25ophthalmoplegia10.0
26polymicrogyria10.0
27tukel syndrome10.0
28hypertropia10.0
29cortical 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

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Drugs & Therapeutics for Congenital Fibrosis of the Extraocular Muscles

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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

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Genetic tests related to Congenital Fibrosis of the Extraocular Muscles:

id Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles20 22 TUBB3

Anatomical Context for Congenital Fibrosis of the Extraocular Muscles

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

32
Eye

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

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Publications for Congenital Fibrosis of the Extraocular Muscles

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Articles related to Congenital Fibrosis of the Extraocular Muscles:

(show all 33)
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
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. (16388177)
2005
25
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. (16157808)
2005
26
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). (15223798)
2004
27
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (15621876)
2004
28
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (14595441)
2003
29
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
30
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (11600883)
2001
31
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. (9683611)
1998
32
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. (8075644)
1994
33
Congenital Fibrosis of the Extraocular Muscles (20301522)
1993

Variations for Congenital Fibrosis of the Extraocular Muscles

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

6
id Gene Name 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

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Expression patterns in normal tissues for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

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

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Compounds for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

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

idCompoundScoreTop Affiliating Genes
1vinorelbine ditartrate619.3TUBB3, FEOM3
2vinblastine sulfate619.2TUBB3, FEOM3
3docetaxel44 50 61 1112.2TUBB3, FEOM3
4epothilone b44 61 1111.1TUBB3, FEOM3
5colchicine44 61 2 28 1112.9TUBB3, FEOM3

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

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

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:0058719.5KIF16B, KIF21A
2microtubuleGO:0058748.8KIF16B, KIF21A, TUBB3

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

idNameGO IDScoreTop Affiliating Genes
1microtubule-based movementGO:0070189.5KIF16B, KIF21A

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

idNameGO IDScoreTop Affiliating Genes
1microtubule bindingGO:0080179.5KIF16B, KIF21A

Products for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Fibrosis of the Extraocular Muscles

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet