CFEOM
MCID: CNG047
MIFTS: 34

Congenital Fibrosis of the Extraocular Muscles (CFEOM) malady

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

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21Genetics Home Reference, 65Wikipedia, 19GeneReviews, 33MalaCards
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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: 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 TUBB3 (tubulin, beta 3 class III). 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

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19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 62UMLS
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Classifications:

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


Aliases & Descriptions:

congenital fibrosis of the extraocular muscles 19 20 22 21
cfeom 19 21 45
congenital fibrosis syndrome 21 62
fibrosis of extraocular muscles, congenital, 1 62
congenital fibrosis of extraocular muscles 21
congenital external ophthalmoplegia 21
general fibrosis syndrome 21


Related Diseases for Congenital Fibrosis of the Extraocular Muscles

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Fibrosis of the Extraocular Muscles 2 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 4 Congenital Fibrosis of the Extraocular Muscles 3c
Fibrosis of Extraocular Muscles, Congenital, 1

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

(show all 26)
idRelated DiseaseScoreTop Affiliating Genes
1congenital fibrosis of the extraocular muscles 3a30.8TUBB3, 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
6kif21a-related congenital fibrosis of the extraocular muscles10.5
7phox2a-related congenital fibrosis of the extraocular muscles10.5
8tubb3-related congenital fibrosis of the extraocular muscles10.5
9congenital fibrosis of the extraocular muscles 1a10.5
10congenital fibrosis of the extraocular muscles 1b10.5
11noonan syndrome10.4
12cerebellar ataxia10.4
13strabismus10.4
14uveitis10.4
15anterior uveitis10.4
16ataxia10.4
17fibrosis of extraocular muscles, congenital, 110.4
18aniridia10.3
19myopia10.1
20hypotropia10.0
21ophthalmoplegia10.0
22polymicrogyria10.0
23tukel syndrome10.0
24kearns-sayre syndrome10.0KIF21A, PHOX2A
25hypertropia10.0
26cortical 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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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33MalaCards
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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

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Publications for Congenital Fibrosis of the Extraocular Muscles

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52PubMed
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Articles related to Congenital Fibrosis of the Extraocular Muscles:

(show all 21)
idTitleAuthorsYear
1
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (22465342)
2012
2
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. (21264235)
2011
3
Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. (21983718)
2011
4
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. (19896199)
2010
5
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). (21042561)
2010
6
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. (19373680)
2009
7
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
8
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. (18332320)
2008
9
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. (17551929)
2007
10
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. (16939002)
2006
11
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. (16365788)
2005
12
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. (16388177)
2005
13
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. (16157808)
2005
14
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). (15223798)
2004
15
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (15621876)
2004
16
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (14595441)
2003
17
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
18
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (11600883)
2001
19
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. (9683611)
1998
20
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. (8075644)
1994
21
Congenital Fibrosis of the Extraocular Muscles (20301522)
1993

Variations for Congenital Fibrosis of the Extraocular Muscles

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Congenital Fibrosis of the Extraocular Muscles:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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61Tocris Bioscience, 45Novoseek, 51PharmGKB, 11DrugBank, 3BitterDB, 29IUPHAR
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Compounds related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vinblastine sulfate619.3FEOM3, TUBB3
2vinorelbine ditartrate619.2FEOM3, TUBB3
3docetaxel45 51 61 1112.2FEOM3, TUBB3
4epothilone b45 61 1111.1TUBB3, FEOM3
5colchicine45 61 3 29 1112.9FEOM3, TUBB3

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

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16Gene Ontology
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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
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Sources for Congenital Fibrosis of the Extraocular Muscles

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet