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 11 22 23 24 13 66
Cfeom 22 23 24 48
Congenital Fibrosis of Extraocular Muscles 46 24 52
Fibrosis of Extraocular Muscles, Congenital 23 25
Tukel Syndrome 11 66
 
Feom 46 52
Congenital External Ophthalmoplegia 24
Congenital Fibrosis Syndrome 24
General Fibrosis Syndrome 24

Characteristics:

Orphanet epidemiological data:

52
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable

Classifications:



External Ids:

Disease Ontology11 DOID:0080143
Orphanet52 ORPHA45358
ICD10 via Orphanet29 H49.8

Summaries for Congenital Fibrosis of the Extraocular Muscles

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Genetics Home Reference:24 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 is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include eye and brain, and related mouse phenotypes are respiratory system and cellular.

Disease Ontology:11 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:69 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 36)
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
11usher syndrome type ii10.2TUBB2B, TUBB3
12american histoplasmosis10.1HOXB1, PHOX2A
13strabismus10.1
14abducens nerve disease10.1CHN1, KIF21A, PHOX2A
15accommodative esotropia10.1CHN1, KIF21A
16disuse amblyopia10.0CHN1, PHOX2A, TUBB3
17lymphoepithelioma-like carcinoma10.0CHN1, KIF21A, PHOX2A
18meckel syndrome 310.0CHN1, KIF21A, ROBO3
19cerebellar ataxia10.0
20hemangioma10.0
21ptosis10.0
22uveitis10.0
23retinitis10.0
24cavernous hemangioma10.0
25anterior uveitis10.0
26ataxia10.0
27porencephaly9.9ECEL1, KIF21A, PHOX2A
28myopia9.8
29total circumpapillary dystrophy of choroid9.8CHN1, ROBO3
30endometriosis of rectovaginal septum and vagina9.8CHN1, KIF21A, PHOX2A, ROBO3
31hypertropia9.6
32mucopolysaccharidosis9.5CHN1, KIF21A, PHOX2A, ROBO3, TUBB3
33monofixation syndrome9.3APPL1, CHN1, KIF21A, PHOX2A, TUBB3
34idiopathic juvenile osteoporosis9.3CHN1, HOXA1, KIF21A, ROBO3, TUBB3
35vaginal adenoma9.0CHN1, ECEL1, HOXB1, KIF21A, PHOX2A, TUBB3
36b-cell childhood acute lymphoblastic leukemia5.8APPL1, CHN1, ECEL1, HOXA1, HOXB1, KANK1

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 Muscles25 23 TUBB3
2 Congenital Fibrosis of Extraocular Muscles25

Anatomical Context for Congenital Fibrosis of the Extraocular Muscles

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

34
Eye, Brain

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

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MGI Mouse Phenotypes related to Congenital Fibrosis of the Extraocular Muscles:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.7ECEL1, HOXA1, HOXB1, PHOX2A, ROBO3, TUBB2B
2MP:00053847.7APPL1, CHN1, HOXA1, HOXB1, PHOX2A, ROBO3
3MP:00036317.2CHN1, ECEL1, HOXA1, HOXB1, PHOX2A, ROBO3
4MP:00107686.3APPL1, ECEL1, HOXA1, HOXB1, KIF16B, PHOX2A

Publications for Congenital Fibrosis of the Extraocular Muscles

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Articles related to Congenital Fibrosis of the Extraocular Muscles:

(show all 37)
idTitleAuthorsYear
1
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. (27513105)
2016
2
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles. (27428177)
2016
3
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. (26186732)
2015
4
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. (25347047)
2014
5
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and MAPbius syndrome. (24715754)
2014
6
Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. (24751811)
2014
7
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
8
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. (24940936)
2014
9
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. (23978146)
2013
10
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1. (22699964)
2013
11
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. (22415008)
2013
12
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. (23248547)
2012
13
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (22465342)
2012
14
Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. (21983718)
2011
15
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. (21264235)
2011
16
Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. (21314337)
2011
17
The optic nerve head in congenital fibrosis of the extraocular muscles. (21449832)
2011
18
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. (19896199)
2010
19
Congenital fibrosis of the extraocular muscles. (21217899)
2010
20
Congenital fibrosis of the extraocular muscles. (21120060)
2010
21
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). (21042561)
2010
22
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. (19373680)
2009
23
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
24
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. (18332320)
2008
25
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. (17551929)
2007
26
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. (16939002)
2006
27
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. (16157808)
2005
28
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. (16365788)
2005
29
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. (16388177)
2005
30
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). (15223798)
2004
31
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (15621876)
2004
32
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (14595441)
2003
33
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
34
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (11600883)
2001
35
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. (9683611)
1998
36
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. (8075644)
1994
37
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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Pathways related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0KIF16B, KIF21A, KIF21B

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1kinesin complexGO:00058719.3KIF16B, KIF21A, KIF21B
2microtubuleGO:00058748.5KIF16B, KIF21A, KIF21B, TUBB2B, TUBB3

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

idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:000701710.2TUBB2B, TUBB3
2microtubule-based movementGO:00070189.0KIF16B, KIF21A, KIF21B

Molecular functions related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule bindingGO:00080179.0KIF16B, KIF21A, KIF21B

Sources for Congenital Fibrosis of the Extraocular Muscles

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet