Congenital Fibrosis of the Extraocular Muscles malady

Genetics Home Reference: 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.¹⁷

MalaCards: Congenital Fibrosis of the Extraocular Muscles, also known as CFEOM, is related to congenital fibrosis of the extraocular muscles 2 and fibrosis of extraocular muscles. An important gene associated with Congenital Fibrosis of the Extraocular Muscles is PHOX2A (paired-like homeobox 2a). The drug potassium para-aminobenzoate has been mentioned in the context of this disorder.

Wikipedia: Congenital fibrosis of the extraocular muscles, or CFEOM, is a class of rare genetic disorders affecting...⁴⁴ more...

GeneReviews summary for cfeom

congenital fibrosis of the extraocular muscles 15 16 17 cfeom 15 16 17 32 general fibrosis syndrome 17

neonatal hemochromatosis 43 fibrosis 43

Disease types for congenital fibrosis of the extraocular muscles family:

congenital fibrosis of the extraocular muscles 1a	congenital fibrosis of the extraocular muscles 1b
congenital fibrosis of the extraocular muscles 2	congenital fibrosis of the extraocular muscles 3a
congenital fibrosis of the extraocular muscles 3b	congenital fibrosis of the extraocular muscles 3c
congenital fibrosis of the extraocular muscles 4	fibrosis of extraocular muscles, congenital, 1
fibrosis of extraocular muscles, congenital, 3

Diseases related to congenital fibrosis of the extraocular muscles by text searches and GeneDecks gene sharing:

(show top 50)    (show all 470)

id	Related Disease	Score	Top Affiliating Genes
1	congenital fibrosis of the extraocular muscles 2	32.6	PHOX2A, KIF21A
2	fibrosis of extraocular muscles	32.4	PHOX2A, TUBB3, FEOM3, KANK1, SALL4, KIF16B
3	fibrosis	32.3	PHOX2A, TUBB3, FEOM3, KANK1, SALL4, KIF16B
4	strabismus	30.4	KIF21A, TUBB3, PHOX2A
5	fibrosis of extraocular muscles, congenital, 3	26.7	TUBB3, FEOM3, KIF21A
6	neuronitis	24.3	KIF21A, KIF16B, SALL4, KANK1, TUBB3, PHOX2A
7	cystic fibrosis	14.1
8	amblyopia	12.3	KIF21A, TUBB3, PHOX2A
9	pulmonary fibrosis	12.0
10	ptosis	11.9	PHOX2A, TUBB3, KIF21A
11	hepatitis	11.8
12	ophthalmoplegia	11.7	PHOX2A, TUBB3, SALL4, KIF21A
13	liver fibrosis	11.5
14	idiopathic pulmonary fibrosis	11.2
15	hepatitis c	10.7
16	pancreatitis	10.2
17	liver disease	9.6
18	neonatal hemochromatosis	9.2
19	oral submucous fibrosis	9.2
20	hepatitis b	9.1
21	congenital fibrosis of the extraocular muscles 3c	9.0
22	congenital fibrosis of the extraocular muscles 4	9.0
23	kif21a-related congenital fibrosis of the extraocular muscles	9.0
24	phox2a-related congenital fibrosis of the extraocular muscles	9.0
25	tubb3-related congenital fibrosis of the extraocular muscles	9.0
26	congenital fibrosis of the extraocular muscles 1a	9.0
27	congenital fibrosis of the extraocular muscles 1b	9.0
28	congenital fibrosis of the extraocular muscles 3a	9.0
29	congenital fibrosis of the extraocular muscles 3b	9.0
30	alcoholism	8.9
31	cystic fibrosis lung disease	8.9
32	hypertension	8.7
33	carcinoma	8.3
34	aspergillosis	8.0
35	congenital bilateral absence of vas deferens	8.0
36	fatty liver disease	8.0
37	insulin resistance	7.9
38	nephropathy	7.9
39	allergic bronchopulmonary aspergillosis	7.8
40	congenital hepatic fibrosis	7.8
41	pulmonary disease	7.8
42	asthma	7.7
43	bronchiectasis	7.7
44	sarcoidosis	7.7
45	peritonitis	7.6
46	nonalcoholic steatohepatitis	7.6
47	nephrogenic systemic fibrosis	7.6
48	pulmonary function	7.4
49	scleroderma	7.4
50	biliary atresia	7.2

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 potassium para-aminobenzoate

Genetic tests related to congenital fibrosis of the extraocular muscles:

id	Genetic test	Affiliating Genes
1	Congenital Fibrosis Of The Extraocular Muscles clinical/research	KIF21A, TUBB3, PHOX2A

Articles related to congenital fibrosis of the extraocular muscles:

(show all 19)

id	Title	Authors	Year	Affiliating Genes
1	Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. (21983718)	Yan Y.S.... Jiao H.Y.	2011	KIF21A
2	KIF21A novel deletion and recurrent mutation in patie nts with congenital fibrosis of the extraocular muscles-1. (21805025)	Wang P.... Zhang Q.	2011	KIF21A
3	Germline 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.	2010	KIF21A
4	Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. (19373680)	Flaherty M.P.... Engle E.C.	2009	KIF21A
5	A 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.	2009	KIF21A, KANK1
6	Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. (18332320)	Lu S.... Larsson C.	2008	KIF21A
7	KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. (15827546)	Lin L.K.... Hwu W.L.	2005	KIF21A
8	Magnetic 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.	2005	KIF21A
9	A 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.	2005	KIF21A, KIF16B
10	Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. (16365788)	Shimizu S.... Maruo T.	2005	KIF21A
11	Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD) (15221064)	Hanisch F.... Zierz S.	2005	SALL4, KIF21A
12	Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). (15223798)	Yamada K.... Engle E.C.	2004	KIF21A, FEOM3
13	Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. (15621876)	Tiab L.... Schorderet D.	2004	KIF21A
14	Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). (14595441)	Yamada K.... Engle E.C.	2003	KIF21A, KIF16B
15	A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). (14597037)	Yazdani A.... Traboulsi E.I.	2003	PHOX2A
16	CFEOM1, 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.	2002	KIF21A, PHOX2A
17	Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (11600883)	Nakano M.... Engle E.C.	2001	PHOX2A
18	Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. (9683611)	Wang S.M.... Engle E.C.	1998	PHOX2A
19	Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. (8075644)	Engle E.C.... Beggs A.H.	1994	KIF21A

Genes related to congenital fibrosis of the extraocular muscles according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	PHOX2A	paired-like homeobox 2a	11.1	Summaries, Publications
2	KIF21A	kinesin family member 21A	11.1	Summaries, Publications
3	TUBB3	tubulin, beta 3 class III	11.1	Summaries
4	FEOM3	fibrosis of extraocular muscles, congenital, 3	11.0	Publications
5	SALL4	sal-like 4 (Drosophila)	11.0	Publications
6	KIF16B	kinesin family member 16B	11.0	Publications
7	KANK1	KN motif and ankyrin repeat domains 1	11.0	Publications

Cellular components related to congenital fibrosis of the extraocular muscles according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	microtubule	GO:005874	8.8	KIF21A, KIF16B, TUBB3

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

id	Name	GO ID	Score	Top Affiliating Genes
1	microtubule-based movement	GO:007018	8.8	KIF21A, KIF16B, TUBB3