MCID: FBR020

Fibrosis of Extraocular Muscles malady

Summaries for Fibrosis of Extraocular Muscles

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22MalaCards
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MalaCards: Fibrosis of Extraocular Muscles, also known as fibrosis, is related to congenital fibrosis of the extraocular muscles and congenital fibrosis of the extraocular muscles 2. An important gene associated with Fibrosis of Extraocular Muscles is KIF21A (kinesin family member 21A). The drug potassium para-aminobenzoate has been mentioned in the context of this disorder.

Aliases & Descriptions for Fibrosis of Extraocular Muscles

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7diseasecard, 43UMLS
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fibrosis of extraocular muscles 7
fibrosis 43

Related Diseases for Fibrosis of Extraocular Muscles

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13GeneCards, 14GeneDecks
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Diseases related to fibrosis of extraocular muscles by text searches and GeneDecks gene sharing:

(show top 50)    (show all 360)
idRelated DiseaseScoreTop Affiliating Genes
1congenital fibrosis of the extraocular muscles32.9PHOX2A, KIF21A
2congenital fibrosis of the extraocular muscles 231.6PHOX2A, KIF21A
3fibrosis of extraocular muscles, congenital, 331.0TUBB3, FEOM3, KIF21A
4fibrosis29.2PHOX2A, TUBB3, FEOM3, KANK1, SALL4, KIF16B
5strabismus24.4KIF21A, TUBB3, PHOX2A
6neuronitis24.3KIF21A, KIF16B, SALL4, KANK1, TUBB3, PHOX2A
7cystic fibrosis14.1
8amblyopia12.3KIF21A, TUBB3, PHOX2A
9pulmonary fibrosis12.0
10ptosis11.9PHOX2A, TUBB3, KIF21A
11hepatitis11.8
12ophthalmoplegia11.8PHOX2A, TUBB3, SALL4, KIF21A
13liver fibrosis11.5
14idiopathic pulmonary fibrosis11.2
15hepatitis c10.7
16pancreatitis10.2
17liver disease9.6
18oral submucous fibrosis9.2
19hepatitis b9.1
20alcoholism8.9
21cystic fibrosis lung disease8.9
22hypertension8.7
23congenital fibrosis of the extraocular muscles 3a8.3
24congenital fibrosis of the extraocular muscles 3b8.3
25fibrosis of extraocular muscles, congenital, 18.3
26carcinoma8.3
27aspergillosis8.0
28congenital bilateral absence of vas deferens8.0
29fatty liver disease8.0
30insulin resistance7.9
31nephropathy7.9
32pulmonary disease7.8
33allergic bronchopulmonary aspergillosis7.8
34congenital hepatic fibrosis7.8
35asthma7.7
36bronchiectasis7.7
37sarcoidosis7.7
38peritonitis7.6
39nonalcoholic steatohepatitis7.6
40nephrogenic systemic fibrosis7.6
41congenital fibrosis of the extraocular muscles 3c7.4
42moebius syndrome7.4
43pulmonary function7.4
44scleroderma7.4
45biliary atresia7.2
46hepatocellular carcinoma7.2
47infertility7.2
48obesity7.2
49pneumonia7.2
50adenocarcinoma7.1

Graphical network of the top 20 diseases related to fibrosis of extraocular muscles:



Graphical network of diseases related to fibrosis of extraocular muscles

Clinical Features for Fibrosis of Extraocular Muscles

Drugs & Therapeutics for Fibrosis of Extraocular Muscles

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for fibrosis of extraocular muscles

Drug clinical trials:

Search ClinicalTrials for fibrosis of extraocular muscles

Search NIH Clinical Center for fibrosis of extraocular muscles

Search CenterWatch for fibrosis of extraocular muscles

Inferred drug relations via UMLS/NDF-RT:

43 28 potassium para-aminobenzoate

Genetic Tests for Fibrosis of Extraocular Muscles

Anatomical Context for Fibrosis of Extraocular Muscles

Phenotypes for genes affiliated with Fibrosis of Extraocular Muscles

Publications for genes affiliated with Fibrosis of Extraocular Muscles

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35PubMed
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Articles related to fibrosis of extraocular muscles:

(show all 22)
idTitleAuthorsYearAffiliating Genes
1Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. (21983718)Yan Y.S.... Jiao H.Y.2011KIF21A
2KIF21A novel deletion and recurrent mutation in patie nts with congenital fibrosis of the extraocular muscles-1. (21805025)Wang P.... Zhang Q.2011KIF21A
3Evidence of an asymmetrical endophenotype in congenit al fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. (20393110)Demer J.L.... Engle E.C.2010TUBB3
4Germline Mosaicism for KIF21A Mutation (p.R954L) Mimi cking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. (19896199)Khan A.O.... Al Tassan N.A.2010KIF21A
5KIF21A mutations in two Chinese families with congeni tal fibrosis of the extraocular muscles (CFEOM). (21042561)Yang X.... Zhang K.2010KIF21A
6Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. (19373680)Flaherty M.P.... Engle E.C.2009KIF21A
7A major mutation of KIF21A associated with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) enhances translocation of Kank1 to the membrane. (19559006)Kakinuma N.... Kiyama R.2009KIF21A, KANK1
8Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian Peninsula. (18363169)Khan A.O.... Al-Tassan N.A.2008KIF21A
9Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. (18332320)Lu S.... Larsson C.2008KIF21A
10KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. (15827546)Lin L.K.... Hwu W.L.2005KIF21A
11Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. (15671279)Demer J.L.... Engle E.C.2005KIF21A
12A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. (16157808)Yamada K.... Engle E.C.2005KIF21A, KIF16B
13Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. (16365788)Shimizu S.... Maruo T.2005KIF21A
14Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD) (15221064)Hanisch F.... Zierz S.2005SALL4, KIF21A
15Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). (15223798)Yamada K.... Engle E.C.2004KIF21A, FEOM3
16Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (15621876)Tiab L.... Schorderet D.2004KIF21A
17Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (14595441)Yamada K.... Engle E.C.2003KIF21A, KIF16B
18A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). (14597037)Yazdani A.... Traboulsi E.I.2003PHOX2A
19CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. (11882252)Engle E.C.... De Berardinis T.2002KIF21A, PHOX2A
20Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (11600883)Nakano M.... Engle E.C.2001PHOX2A
21Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. (9683611)Wang S.M.... Engle E.C.1998PHOX2A
22Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. (8075644)Engle E.C.... Beggs A.H.1994KIF21A

Expression for genes affiliated with Fibrosis of Extraocular Muscles

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Fibrosis of Extraocular Muscles

Pathways for genes affiliated with Fibrosis of Extraocular Muscles

Compounds for genes affiliated with Fibrosis of Extraocular Muscles

GO Terms for genes affiliated with Fibrosis of Extraocular Muscles

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12Gene Ontology
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Cellular components related to fibrosis of extraocular muscles according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubuleGO:0058748.8KIF21A, KIF16B, TUBB3

Biological processes related to fibrosis of extraocular muscles according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule-based movementGO:0070188.8KIF21A, KIF16B, TUBB3

Sources for Fibrosis of Extraocular Muscles

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS