CFEOM
MCID: CNG047
MIFTS: 20

Congenital Fibrosis of the Extraocular Muscles (CFEOM) malady

Summaries for Congenital Fibrosis of the Extraocular Muscles

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21Genetics Home Reference, 64Wikipedia, 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).

Wikipedia:64 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

Sources:
19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 61UMLS
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Aliases & Descriptions:

congenital fibrosis of the extraocular muscles 19 20 22 21
cfeom 19 21 45
congenital fibrosis syndrome 21 61
fibrosis of extraocular muscles, congenital, 1 61
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 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 29)
idRelated DiseaseScoreTop Affiliating Genes
1congenital fibrosis of the extraocular muscles 3a10.6
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
11moebius syndrome10.4
12coloboma10.3
13noonan syndrome10.3
14n syndrome10.3
15strabismus10.3
16uveitis10.3
17anterior uveitis10.3
18marcus gunn phenomenon10.3
19ataxia10.3
20strabismus 110.3
21fibrosis of extraocular muscles, congenital, 110.3
22aniridia10.3
23hypertropia10.0
24hypotropia10.0
25congenital hepatic fibrosis10.0
26polymicrogyria10.0
27tukel syndrome10.0
28amblyopia10.0KIF21A
29ophthalmoplegia10.0PHOX2A, KIF21A

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



Diseases related to congenital fibrosis of the extraocular muscles

Clinical Features for Congenital Fibrosis of the Extraocular Muscles

Drugs & Therapeutics for Congenital Fibrosis of the Extraocular Muscles

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Fibrosis of the Extraocular Muscles

Drug clinical trials:

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Search NIH Clinical Center for Congenital Fibrosis of the Extraocular Muscles

Search CenterWatch 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

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

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28inGenious Targeting Laboratory
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Publications for Congenital Fibrosis of the Extraocular Muscles

Genetic Variations for Congenital Fibrosis of the Extraocular Muscles

Expression for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

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1BioGPS, 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

Compounds for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

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

Sources:
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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Sources for Congenital Fibrosis of the Extraocular Muscles

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet