MCID: CNG047
MIFTS: 37

Congenital Fibrosis of the Extraocular Muscles malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Congenital Fibrosis of the Extraocular Muscles

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Aliases & Descriptions for Congenital Fibrosis of the Extraocular Muscles:

Name: Congenital Fibrosis of the Extraocular Muscles 10 21 22 23 65
Cfeom 21 22 23 47
Congenital Fibrosis of Extraocular Muscles 45 23 51
Fibrosis of Extraocular Muscles, Congenital 22 24
Tukel Syndrome 10 65
 
Feom 45 51
Congenital External Ophthalmoplegia 23
Congenital Fibrosis Syndrome 23
General Fibrosis Syndrome 23

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0080143
Orphanet51 45358
ICD10 via Orphanet28 H49.8
UMLS65 C1836217, C1302995

Summaries for Congenital Fibrosis of the Extraocular Muscles

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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 cfeom, is related to kif21a-related congenital fibrosis of the extraocular muscles and phox2a-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 Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include eye, skin and prostate.

Disease Ontology:10 An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.

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

GeneReviews summary for NBK1348

Related Diseases for Congenital Fibrosis of the Extraocular Muscles

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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 33)
idRelated DiseaseScoreTop Affiliating Genes
1kif21a-related congenital fibrosis of the extraocular muscles12.3
2phox2a-related congenital fibrosis of the extraocular muscles12.3
3tubb3-related congenital fibrosis of the extraocular muscles12.3
4congenital fibrosis of the extraocular muscles 1a12.3
5congenital fibrosis of the extraocular muscles 1b12.3
6fibrosis of extraocular muscles, congenital, 111.8
7fibrosis of extraocular muscles, congenital, 3a11.6
8fibrosis of extraocular muscles, congenital, 211.4
9fibrosis of extraocular muscles, congenital, 3c11.4
10tukel syndrome11.4
11autism susceptibility 1710.3KIF21A, PHOX2A
12endometriosis in scar of skin10.2KIF21A, PHOX2A
13hallucinogen abuse10.1KIF21A, PHOX2A
14gallbladder disease10.1KIF21A, PHOX2A
15strabismus10.1
16meckel syndrome 310.1COL25A1, KIF21A
17lipid-rich carcinoma10.0KIF21A, PHOX2A
18ophthalmoplegia10.0
19partial third-nerve palsy10.0KIF21A, PHOX2A, TUBB3
20cerebellar ataxia10.0
21hemangioma10.0
22ptosis10.0
23uveitis10.0
24retinitis10.0
25cavernous hemangioma10.0
26anterior uveitis10.0
27ataxia10.0
28total circumpapillary dystrophy of choroid10.0KIF21A, PHOX2A, TUBB3
29ametropic amblyopia9.9KIF21A, PHOX2A, TUBB3
30water-clear cell adenoma9.9KIF21A, PHOX2A, TUBB3
31clear cell adenoma9.9KIF21A, PHOX2A
32myopia9.8
33sensorineural hearing loss7.2COL25A1, 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

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Drugs & Therapeutics for Congenital Fibrosis of the Extraocular Muscles

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Interventional clinical trials:

Search ClinicalTrials, 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 Muscles22 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:

33
Eye, Skin, Prostate, Testis, Tongue, T cells, Tonsil

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 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

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Expression for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

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

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

idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:00070179.7TUBB2B, TUBB3
2de novo posttranslational protein foldingGO:00510849.6TUBB2B, TUBB3

Sources for Congenital Fibrosis of the Extraocular Muscles

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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