CFEOM1
MCID: FBR046
MIFTS: 43

Fibrosis of Extraocular Muscles, Congenital, 1 (CFEOM1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 1

MalaCards integrated aliases for Fibrosis of Extraocular Muscles, Congenital, 1:

Name: Fibrosis of Extraocular Muscles, Congenital, 1 57 75 29 13 6 73
Fibrosis of Extraocular Muscles, Congenital, 3b 57 75 29 6 73
Blepharoptosis with Absent Eye Movements 57 75
Fibrosis 44 73
Cfeom1 57 75
Fibrosis, Extraocular Muscles, Congenital, Type 1 40
Congenital Fibrosis of the Extraocular Muscles 73
Ophthalmoplegia, Congenital 57
Congenital Ophthalmoplegia 75
Feom1 Locus 57
Cfeom3b 75
Feom1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients may have unilateral involvement, may be able to raise the eye above midline, or may not have ptosis--these patients are classified as having cfeom3 (cfeom3b)


HPO:

32
fibrosis of extraocular muscles, congenital, 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

OMIM : 57 Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008). CFEOM2 (602078), an autosomal recessive disorder caused by mutation in the ARIX gene (602753) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position. The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (600638) is caused by mutation in the TUBB3 gene (602661) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (608283) on chromosome 12q12; and CFEOM3C (609384) maps to chromosome 13q. CFEOM4 (609428), also known as Tukel syndrome, maps to chromosome 21q. CFEOM5 (616219) is caused by mutation in the COL25A1 gene (610004) on chromosome 4q25. See also NOMENCLATURE below. (135700)

MalaCards based summary : Fibrosis of Extraocular Muscles, Congenital, 1, also known as fibrosis of extraocular muscles, congenital, 3b, is related to cystic fibrosis and pulmonary fibrosis, idiopathic, and has symptoms including seizures, muscle weakness and fever. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (Kinesin Family Member 21A). Affiliated tissues include eye, bone and lung, and related phenotypes are esotropia and exotropia

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 75 Fibrosis of extraocular muscles, congenital, 1: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. Fibrosis of extraocular muscles, congenital, 3B: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy.

Wikipedia : 76 Congenital fibrosis of the extraocular muscles, or CFEOM, is a class of rare genetic disorders... more...

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 1

Diseases in the Fibrosis of Extraocular Muscles, Congenital, 3c family:

Fibrosis of Extraocular Muscles, Congenital, 1 Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis of Extraocular Muscles, Congenital, 5

Diseases related to Fibrosis of Extraocular Muscles, Congenital, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1459)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis 12.7
2 pulmonary fibrosis, idiopathic 12.7
3 oral submucous fibrosis 12.5
4 pulmonary fibrosis 12.5
5 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 12.5
6 retroperitoneal fibrosis 12.4
7 congenital hepatic fibrosis 12.4
8 fibrosis of extraocular muscles, congenital, 2 12.4
9 nephrogenic systemic fibrosis 12.4
10 combined pulmonary fibrosis-emphysema syndrome 12.3
11 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 12.3
12 cystic fibrosis, modifier of, 1 12.2
13 endomyocardial fibrosis 12.2
14 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 12.2
15 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 12.2
16 hepatic fibrosis, severe due to schistosoma mansoni infection 12.2
17 fibrosis of extraocular muscles, congenital, 5 12.2
18 renal fibrosis 12.2
19 diffuse pulmonary fibrosis 12.1
20 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.1
21 preretinal fibrosis 12.0
22 hermansky-pudlak syndrome with pulmonary fibrosis 12.0
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 12.0
24 tropical endomyocardial fibrosis 12.0
25 coach syndrome 12.0
26 airway-centered interstitial fibrosis 12.0
27 pulmonary fibrosis, familial 12.0
28 isolated congenital hepatic fibrosis 12.0
29 fibrosis of extraocular muscles, congenital, 3c 12.0
30 fibrosis of extraocular muscles, congenital, with synergistic divergence 12.0
31 postinflammatory pulmonary fibrosis 12.0
32 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 11.9
33 localized pulmonary fibrosis 11.9
34 muscular fibrosis multifocal obstructed vessels 11.9
35 hermansky-pudlak syndrome without pulmonary fibrosis 11.9
36 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 11.9
37 cystic fibrosis and congenital absence of the vas deferens 11.9
38 familial interstitial fibrosis 11.9
39 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome 11.9
40 bronchiectasis with or without elevated sweat chloride 1 11.8
41 bronchiectasis with or without elevated sweat chloride 2 11.7
42 bronchiectasis with or without elevated sweat chloride 3 11.7
43 myelofibrosis 11.7
44 igg4-related disease 11.7
45 acute interstitial pneumonia 11.7
46 congenital disorder of glycosylation, type ib 11.7
47 fibrosclerosis, multifocal 11.6
48 fibrosing mediastinitis 11.6
49 eaf 11.5
50 diabetes mellitus, neonatal, with congenital hypothyroidism 11.5

Graphical network of the top 20 diseases related to Fibrosis of Extraocular Muscles, Congenital, 1:



Diseases related to Fibrosis of Extraocular Muscles, Congenital, 1

Symptoms & Phenotypes for Fibrosis of Extraocular Muscles, Congenital, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
compensatory chin elevation

Muscle Soft Tissue:
levator palpebrae superioris atrophy
rectus superior atrophy

Head And Neck Eyes:
ptosis, bilateral
congenital fibrosis of extraocular muscles
restrictive external ophthalmoplegia, bilateral
bilateral infraducted eye position (downward gaze)
inability to raise eyes above midline
more
Neurologic Central Nervous System:
absent superior division of oculomotor nerve and corresponding alpha motor neurons


Clinical features from OMIM:

135700

Human phenotypes related to Fibrosis of Extraocular Muscles, Congenital, 1:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 esotropia 32 HP:0000565
2 exotropia 32 HP:0000577
3 bilateral ptosis 32 HP:0001488
4 compensatory chin elevation 32 HP:0001477
5 congenital fibrosis of extraocular muscles 32 HP:0001491
6 secondary esotropia 32 HP:0031723
7 levator palpebrae superioris atrophy 32 HP:0012241
8 restrictive external ophthalmoplegia 32 HP:0007936
9 superior rectus atrophy 32 HP:0012242
10 sensory exotropia 32 HP:0031721

UMLS symptoms related to Fibrosis of Extraocular Muscles, Congenital, 1:


seizures, muscle weakness, fever, polydipsia, dyspnea, edema, cachexia, vertigo, headache, ophthalmoplegia, syncope, cyanosis, icterus, signs and symptoms, signs and symptoms, digestive, hot flushes

Drugs & Therapeutics for Fibrosis of Extraocular Muscles, Congenital, 1

Search Clinical Trials , NIH Clinical Center for Fibrosis of Extraocular Muscles, Congenital, 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: fibrosis

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 1

Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 1:

# Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 3b 29
2 Fibrosis of Extraocular Muscles, Congenital, 1 29 KIF21A

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

MalaCards organs/tissues related to Fibrosis of Extraocular Muscles, Congenital, 1:

41
Eye, Bone, Lung, Kidney, Liver, Heart, Bone Marrow

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

Articles related to Fibrosis of Extraocular Muscles, Congenital, 1:

(show top 50) (show all 57)
# Title Authors Year
1
Comparison of Clinical and Radiological Findings between Congenital Orbital Fibrosis and Congenital Fibrosis of the Extraocular Muscles. ( 30081646 )
2018
2
Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1. ( 28930843 )
2017
3
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles. ( 27428177 )
2016
4
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. ( 27513105 )
2016
5
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. ( 26186732 )
2015
6
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
7
Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. ( 24940936 )
2014
8
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. ( 25347047 )
2014
9
A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and MAPbius syndrome. ( 24715754 )
2014
10
Sclerosing cavernous hemangioma of the cavernous sinus mimicking congenital fibrosis of the extraocular muscles. ( 24751811 )
2014
11
Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1. ( 22699964 )
2013
12
Congenital fibrosis of the extraocular muscles: magnetic resonance imaging findings and surgical treatment. ( 23978146 )
2013
13
Dissociated vertical deviation in congenital fibrosis of the extraocular muscles. ( 22415008 )
2013
14
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 22465342 )
2012
15
Surgically mismanaged ptosis in a patient with congenital fibrosis of the extraocular muscles type I. ( 23248547 )
2012
16
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. ( 21264235 )
2011
17
Unilateral congenital fibrosis of the extraocular muscles with lid retraction: surgical treatment with a silicon plate on the orbital floor. ( 21314337 )
2011
18
The optic nerve head in congenital fibrosis of the extraocular muscles. ( 21449832 )
2011
19
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1. ( 21805025 )
2011
20
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. ( 21983718 )
2011
21
Congenital fibrosis of the extraocular muscles. ( 21120060 )
2010
22
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). ( 21042561 )
2010
23
Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles. ( 19896199 )
2010
24
Congenital fibrosis of the extraocular muscles. ( 21217899 )
2010
25
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
26
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata. ( 19373680 )
2009
27
Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations. ( 19489868 )
2009
28
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. ( 18332320 )
2008
29
Congenital fibrosis of the extraocular muscles. ( 18214786 )
2008
30
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. ( 17551929 )
2007
31
Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. ( 17389489 )
2007
32
Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family. ( 16939002 )
2006
33
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. ( 16815872 )
2006
34
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon. ( 16157808 )
2005
35
Anterior uveitis and congenital fibrosis of the extraocular muscles in a patient with Noonan syndrome. ( 16388177 )
2005
36
Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles. ( 16365788 )
2005
37
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. ( 15621876 )
2004
38
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). ( 15223798 )
2004
39
Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles. ( 15121385 )
2004
40
Congenital fibrosis of the extraocular muscles with brain-stem abnormalities: a novel finding. ( 15491041 )
2004
41
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ( 14595441 )
2003
42
A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region. ( 12899874 )
2003
43
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
44
Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. ( 12181522 )
2002
45
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. ( 11600883 )
2001
46
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. ( 11425694 )
2001
47
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles. ( 10844060 )
2000
48
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. ( 9683611 )
1998
49
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. ( 9797671 )
1998
50
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. ( 9066352 )
1997

Variations for Fibrosis of Extraocular Muscles, Congenital, 1

UniProtKB/Swiss-Prot genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 1:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 KIF21A p.Met356Thr VAR_019399 rs121912588
2 KIF21A p.Met947Arg VAR_019400 rs121912590
3 KIF21A p.Met947Val VAR_019401 rs121912589
4 KIF21A p.Arg954Gln VAR_019402 rs121912586
5 KIF21A p.Arg954Trp VAR_019403 rs121912585
6 KIF21A p.Ile1010Thr VAR_019404 rs121912587
7 KIF21A p.Met947Thr VAR_027021
8 KIF21A p.Asp352Glu VAR_074031
9 KIF21A p.Glu944Gln VAR_074032
10 KIF21A p.Arg954Leu VAR_074033
11 KIF21A p.Ala1008Pro VAR_074034

ClinVar genetic disease variations for Fibrosis of Extraocular Muscles, Congenital, 1:

6 (show top 50) (show all 184)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF21A NM_001173464.1(KIF21A): c.2860C> T (p.Arg954Trp) single nucleotide variant Pathogenic rs121912585 GRCh37 Chromosome 12, 39726207: 39726207
2 KIF21A NM_001173464.1(KIF21A): c.2860C> T (p.Arg954Trp) single nucleotide variant Pathogenic rs121912585 GRCh38 Chromosome 12, 39332405: 39332405
3 KIF21A NM_001173464.1(KIF21A): c.2861G> A (p.Arg954Gln) single nucleotide variant Pathogenic rs121912586 GRCh37 Chromosome 12, 39726206: 39726206
4 KIF21A NM_001173464.1(KIF21A): c.2861G> A (p.Arg954Gln) single nucleotide variant Pathogenic rs121912586 GRCh38 Chromosome 12, 39332404: 39332404
5 KIF21A NM_001173464.1(KIF21A): c.3029T> C (p.Ile1010Thr) single nucleotide variant Pathogenic rs121912587 GRCh37 Chromosome 12, 39726038: 39726038
6 KIF21A NM_001173464.1(KIF21A): c.3029T> C (p.Ile1010Thr) single nucleotide variant Pathogenic rs121912587 GRCh38 Chromosome 12, 39332236: 39332236
7 KIF21A NM_001173464.1(KIF21A): c.1067T> C (p.Met356Thr) single nucleotide variant Pathogenic rs121912588 GRCh37 Chromosome 12, 39752128: 39752128
8 KIF21A NM_001173464.1(KIF21A): c.1067T> C (p.Met356Thr) single nucleotide variant Pathogenic rs121912588 GRCh38 Chromosome 12, 39358326: 39358326
9 KIF21A NM_001173464.1(KIF21A): c.2839A> G (p.Met947Val) single nucleotide variant Pathogenic rs121912589 GRCh37 Chromosome 12, 39726410: 39726410
10 KIF21A NM_001173464.1(KIF21A): c.2839A> G (p.Met947Val) single nucleotide variant Pathogenic rs121912589 GRCh38 Chromosome 12, 39332608: 39332608
11 KIF21A NM_001173464.1(KIF21A): c.2840T> G (p.Met947Arg) single nucleotide variant Pathogenic rs121912590 GRCh37 Chromosome 12, 39726409: 39726409
12 KIF21A NM_001173464.1(KIF21A): c.2840T> G (p.Met947Arg) single nucleotide variant Pathogenic rs121912590 GRCh38 Chromosome 12, 39332607: 39332607
13 KIF21A NM_001173464.1(KIF21A): c.2841G> A (p.Met947Ile) single nucleotide variant Pathogenic rs267607200 GRCh37 Chromosome 12, 39726408: 39726408
14 KIF21A NM_001173464.1(KIF21A): c.2841G> A (p.Met947Ile) single nucleotide variant Pathogenic rs267607200 GRCh38 Chromosome 12, 39332606: 39332606
15 KIF21A NM_001173464.1(KIF21A): c.84C> G (p.Cys28Trp) single nucleotide variant Pathogenic rs864321718 GRCh37 Chromosome 12, 39764024: 39764024
16 KIF21A NM_001173464.1(KIF21A): c.84C> G (p.Cys28Trp) single nucleotide variant Pathogenic rs864321718 GRCh38 Chromosome 12, 39370222: 39370222
17 KIF21A NM_017641.3(KIF21A): c.*707A> G single nucleotide variant Likely benign rs536139187 GRCh37 Chromosome 12, 39687519: 39687519
18 KIF21A NM_017641.3(KIF21A): c.*707A> G single nucleotide variant Likely benign rs536139187 GRCh38 Chromosome 12, 39293717: 39293717
19 KIF21A NM_017641.3(KIF21A): c.*690delT deletion Benign rs201147142 GRCh37 Chromosome 12, 39687536: 39687536
20 KIF21A NM_017641.3(KIF21A): c.*690delT deletion Benign rs201147142 GRCh38 Chromosome 12, 39293734: 39293734
21 KIF21A NM_017641.3(KIF21A): c.*418A> G single nucleotide variant Benign rs77242017 GRCh38 Chromosome 12, 39294006: 39294006
22 KIF21A NM_017641.3(KIF21A): c.*418A> G single nucleotide variant Benign rs77242017 GRCh37 Chromosome 12, 39687808: 39687808
23 KIF21A NM_017641.3(KIF21A): c.2502A> G (p.Lys834=) single nucleotide variant Likely benign rs145897823 GRCh38 Chromosome 12, 39333054: 39333054
24 KIF21A NM_017641.3(KIF21A): c.3302-5dupT duplication Likely benign rs71075059 GRCh38 Chromosome 12, 39326329: 39326329
25 KIF21A NM_017641.3(KIF21A): c.3302-5dupT duplication Likely benign rs71075059 GRCh37 Chromosome 12, 39720131: 39720131
26 KIF21A NM_017641.3(KIF21A): c.3293T> C (p.Val1098Ala) single nucleotide variant Likely benign rs150294289 GRCh38 Chromosome 12, 39330250: 39330250
27 KIF21A NM_017641.3(KIF21A): c.3293T> C (p.Val1098Ala) single nucleotide variant Likely benign rs150294289 GRCh37 Chromosome 12, 39724052: 39724052
28 KIF21A NM_017641.3(KIF21A): c.3072C> T (p.Ala1024=) single nucleotide variant Likely benign rs145404005 GRCh37 Chromosome 12, 39725534: 39725534
29 KIF21A NM_017641.3(KIF21A): c.3072C> T (p.Ala1024=) single nucleotide variant Likely benign rs145404005 GRCh38 Chromosome 12, 39331732: 39331732
30 KIF21A NM_017641.3(KIF21A): c.2743C> T (p.Arg915Cys) single nucleotide variant Uncertain significance rs749644826 GRCh37 Chromosome 12, 39726467: 39726467
31 KIF21A NM_017641.3(KIF21A): c.2743C> T (p.Arg915Cys) single nucleotide variant Uncertain significance rs749644826 GRCh38 Chromosome 12, 39332665: 39332665
32 KIF21A NM_017641.3(KIF21A): c.2502A> G (p.Lys834=) single nucleotide variant Likely benign rs145897823 GRCh37 Chromosome 12, 39726856: 39726856
33 KIF21A NM_017641.3(KIF21A): c.1628A> G (p.Lys543Arg) single nucleotide variant Likely benign rs149219011 GRCh37 Chromosome 12, 39745624: 39745624
34 KIF21A NM_017641.3(KIF21A): c.1628A> G (p.Lys543Arg) single nucleotide variant Likely benign rs149219011 GRCh38 Chromosome 12, 39351822: 39351822
35 KIF21A NM_017641.3(KIF21A): c.1542G> A (p.Ala514=) single nucleotide variant Uncertain significance rs199973182 GRCh37 Chromosome 12, 39745710: 39745710
36 KIF21A NM_017641.3(KIF21A): c.1542G> A (p.Ala514=) single nucleotide variant Uncertain significance rs199973182 GRCh38 Chromosome 12, 39351908: 39351908
37 KIF21A NM_017641.3(KIF21A): c.1160A> G (p.Asn387Ser) single nucleotide variant Uncertain significance rs745692702 GRCh38 Chromosome 12, 39358233: 39358233
38 KIF21A NM_017641.3(KIF21A): c.1160A> G (p.Asn387Ser) single nucleotide variant Uncertain significance rs745692702 GRCh37 Chromosome 12, 39752035: 39752035
39 KIF21A NM_017641.3(KIF21A): c.-19A> G single nucleotide variant Likely benign rs139423015 GRCh38 Chromosome 12, 39442989: 39442989
40 KIF21A NM_017641.3(KIF21A): c.-19A> G single nucleotide variant Likely benign rs139423015 GRCh37 Chromosome 12, 39836791: 39836791
41 KIF21A NM_017641.3(KIF21A): c.-147C> A single nucleotide variant Uncertain significance rs886049348 GRCh38 Chromosome 12, 39443117: 39443117
42 KIF21A NM_017641.3(KIF21A): c.-147C> A single nucleotide variant Uncertain significance rs886049348 GRCh37 Chromosome 12, 39836919: 39836919
43 KIF21A NM_017641.3(KIF21A): c.-203C> G single nucleotide variant Uncertain significance rs886049349 GRCh38 Chromosome 12, 39443173: 39443173
44 KIF21A NM_017641.3(KIF21A): c.-203C> G single nucleotide variant Uncertain significance rs886049349 GRCh37 Chromosome 12, 39836975: 39836975
45 KIF21A NM_017641.3(KIF21A): c.-245C> T single nucleotide variant Uncertain significance rs886049350 GRCh38 Chromosome 12, 39443215: 39443215
46 KIF21A NM_017641.3(KIF21A): c.-245C> T single nucleotide variant Uncertain significance rs886049350 GRCh37 Chromosome 12, 39837017: 39837017
47 KIF21A NM_017641.3(KIF21A): c.-313G> A single nucleotide variant Benign rs11835359 GRCh38 Chromosome 12, 39443283: 39443283
48 KIF21A NM_017641.3(KIF21A): c.-313G> A single nucleotide variant Benign rs11835359 GRCh37 Chromosome 12, 39837085: 39837085
49 KIF21A NM_017641.3(KIF21A): c.-335C> G single nucleotide variant Uncertain significance rs886049351 GRCh38 Chromosome 12, 39443305: 39443305
50 KIF21A NM_017641.3(KIF21A): c.-335C> G single nucleotide variant Uncertain significance rs886049351 GRCh37 Chromosome 12, 39837107: 39837107

Expression for Fibrosis of Extraocular Muscles, Congenital, 1

Search GEO for disease gene expression data for Fibrosis of Extraocular Muscles, Congenital, 1.

Pathways for Fibrosis of Extraocular Muscles, Congenital, 1

GO Terms for Fibrosis of Extraocular Muscles, Congenital, 1

Sources for Fibrosis of Extraocular Muscles, Congenital, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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