Fibrosis of Extraocular Muscles, Congenital, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CFEOM1 MCID: FBR046 MIFTS: 56	Fibrosis of Extraocular Muscles, Congenital, 1 (CFEOM1) Categories: Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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 ⁷³ ¹² ⁷¹

Fibrosis of Extraocular Muscles, Congenital, 3b ⁵⁷ ⁷³ ²⁸ ⁵ ⁷¹

Congenital Fibrosis of Extraocular Muscles Type 1 ²⁸ ⁵

Congenital Fibrosis of the Extraocular Muscles 1 ¹¹ ¹⁴

Blepharoptosis with Absent Eye Movements ⁵⁷ ⁷³

Cfeom1 ⁵⁷ ⁷³

Fibrosis, Extraocular Muscles, Congenital, Type 1 ³⁸

Congenital Fibrosis of the Extraocular Muscles ⁷¹

Ophthalmoplegia, Congenital ⁵⁷

Congenital Ophthalmoplegia ⁷³

Feom1 Locus ⁵⁷

Fibrosis ⁷¹

Cfeom3b ⁷³

Feom1 ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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)

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0081015

OMIM® ⁵⁷ 135700

OMIM Phenotypic Series ⁵⁷ PS135700

MeSH ⁴³ D005355 D009886

MedGen ⁴⁰ C1851102 C2751105

SNOMED-CT via HPO ⁶⁹ 16596007 399054005 399252000 more

UMLS ⁷¹ C0016059 C1302995 C1851102 more

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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 (PHOX2A; 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. (135700) (Updated 08-Dec-2022)

MalaCards based summary: Fibrosis of Extraocular Muscles, Congenital, 1, also known as fibrosis of extraocular muscles, congenital, 3b, is related to moebius syndrome and fibrosis of extraocular muscles, congenital, 2, and has symptoms including muscle weakness, polydipsia and fever. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (Kinesin Family Member 21A), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Vesicle-mediated transport. The drugs Angiotensin II and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and bone marrow, and related phenotypes are esotropia and exotropia

UniProtKB/Swiss-Prot ⁷³ 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.

Disease Ontology: ¹¹ A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has material basis in heterozygous mutation in the KIF21A gene on chromosome 12q12.

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Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 1

Diseases in the Congenital Fibrosis of the Extraocular Muscles family:

Fibrosis of Extraocular Muscles, Congenital, 1	Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis of Extraocular Muscles, Congenital, 3c	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 all 47)

#	Related Disease	Score	Top Affiliating Genes
1	moebius syndrome	31.5	PHOX2A KIF21A
2	fibrosis of extraocular muscles, congenital, 2	31.5	PHOX2A KIF21A
3	tukel syndrome	31.2	PHOX2A KIF21A COL25A1
4	strabismus	31.0	PHOX2A KIF21A COL2A1
5	congenital fibrosis of the extraocular muscles	30.2	TUBB4B TUBB2A TUBB1 PHOX2A KIF21A COL25A1
6	ptosis	29.9	PHOX2A KIF21A COL25A1
7	congenital ptosis	29.8	PHOX2A KIF21A COL25A1
8	ocular motility disease	29.6	PHOX2A KIF21A
9	fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	11.1
10	kearns-sayre syndrome	10.2
11	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.1
12	conjugate gaze palsy	10.1
13	spinal stenosis	10.1
14	myopathy	10.0
15	myotonic cataract	10.0	PHOX2A KIF21A
16	marcus gunn phenomenon	10.0	PHOX2A KIF21A
17	hypotropia	10.0	PHOX2A KIF21A
18	paralytic squint	10.0	PHOX2A KIF21A
19	microphthalmia, isolated 5	10.0	PHOX2A KIF21A
20	partial third-nerve palsy	10.0	PHOX2A KIF21A
21	ophthalmoplegia, familial static	9.9
22	duane-radial ray syndrome	9.9	PHOX2A KIF21A
23	exotropia	9.9	PHOX2A KIF21A
24	muscular dystrophy, limb-girdle, autosomal recessive 5	9.9
25	leukemia, acute lymphoblastic 3	9.9
26	b-lymphoblastic leukemia/lymphoma	9.9
27	autosomal recessive limb-girdle muscular dystrophy type 2c	9.9
28	limb-girdle muscular dystrophy	9.9
29	movement disease	9.9
30	muscular dystrophy	9.9
31	esotropia	9.9	PHOX2A KIF21A
32	amblyopia	9.8	PHOX2A KIF21A
33	hypertropia	9.8	PHOX2A KIF21A COL25A1
34	basal cell nevus syndrome	9.8
35	duane retraction syndrome 1	9.8
36	craniofacial microsomia	9.8
37	polymicrogyria	9.8
38	congenital myasthenic syndrome	9.8
39	mitochondrial myopathy	9.8
40	aminoaciduria	9.8
41	duane retraction syndrome	9.8	PHOX2A KIF21A COL25A1
42	cranial nerve disease	9.8	PHOX2A KIF21A
43	tubulin, beta	9.7	TUBB4B TUBB2A
44	lissencephaly 2	9.7	TUBB4B TUBB2A
45	refractive error	9.7	PHOX2A KIF21A COL2A1
46	leukodystrophy, hypomyelinating, 6	9.7	TUBB4B TUBB2A
47	keratitis, hereditary	9.7	PHOX2A KIF21A

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

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

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

³⁰ (show all 10)

#	Description	HPO Source Accession
1	esotropia ³⁰	HP:0000565
2	exotropia ³⁰	HP:0000577
3	bilateral ptosis ³⁰	HP:0001488
4	congenital fibrosis of extraocular muscles ³⁰	HP:0001491
5	compensatory chin elevation ³⁰	HP:0001477
6	restrictive external ophthalmoplegia ³⁰	HP:0007936
7	levator palpebrae superioris atrophy ³⁰	HP:0012241
8	superior rectus atrophy ³⁰	HP:0012242
9	sensory exotropia ³⁰	HP:0031721
10	secondary esotropia ³⁰	HP:0031723

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
congenital fibrosis of extraocular muscles
secondary esotropia
ptosis, bilateral
restrictive external ophthalmoplegia, bilateral
bilateral infraducted eye position (downward gaze)
more

Muscle Soft Tissue:
levator palpebrae superioris atrophy
rectus superior atrophy

Head And Neck Head:
compensatory chin elevation

Neurologic Central Nervous System:
absent superior division of oculomotor nerve and corresponding alpha motor neurons

Clinical features from OMIM®:

135700 (Updated 08-Dec-2022)

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

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

Sources

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

Drugs for Fibrosis of Extraocular Muscles, Congenital, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 827)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Angiotensin II

Approved, Investigational

Phase 4

68521-88-0, 11128-99-7, 4474-91-3

172198

Simvastatin

Approved

Phase 4

79902-63-9

54454

Cefepime

Approved, Investigational

Phase 4

88040-23-7

5479537

Clavulanic acid

Approved, Vet_approved

Phase 4

58001-44-8

5280980

Vancomycin

Approved

Phase 4

1404-90-6

14969

Isosorbide dinitrate

Approved, Investigational

Phase 4

87-33-2

3780 6883

Isosorbide

Approved, Investigational

Phase 4

652-67-5

99937 12597

Prazosin

Approved

Phase 4

19216-56-9

4893

Telbivudine

Approved, Investigational

Phase 4

3424-98-4

159269

Tranexamic acid

Approved

Phase 4

1197-18-8

5526

Magnesium oxide

Approved

Phase 4

1309-48-4

14792

Insulin glulisine

Approved

Phase 4

207748-29-6

Amoxicillin

Approved, Vet_approved

Phase 4

26787-78-0

33613

Octreotide

Approved, Investigational

Phase 4

83150-76-9

383414 6400441

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Doxycycline

Approved, Investigational, Vet_approved

Phase 4

564-25-0

54671203

Losartan

Approved

Phase 4

114798-26-4

3961

Warfarin

Approved

Phase 4

81-81-2, 129-06-6

54678486

Ceftolozane

Approved, Investigational

Phase 4

689293-68-3

75984602

Azithromycin

Approved

Phase 4

83905-01-5

447043

Amikacin

Approved, Investigational, Vet_approved

Phase 4

37517-28-5, 39831-55-5

37768

Aztreonam

Approved

Phase 4

78110-38-0

5742832

Tamoxifen

Approved

Phase 4

10540-29-1, 54965-24-1

2733526

Risedronic acid

Approved, Investigational

Phase 4

105462-24-6

5245

Fosfomycin

Approved

Phase 4

23155-02-4

446987

Bevacizumab

Approved, Investigational

Phase 4

216974-75-3

135329020

Atropine

Approved, Vet_approved

Phase 4

101-31-5, 5908-99-6, 51-55-8

3661 154417 174174

Insulin glargine

Approved

Phase 4

160337-95-1

118984454

Zinc cation

Approved, Experimental, Investigational

Phase 4

7440-66-6, 23713-49-7

32051

Tocopherol

Approved, Investigational

Phase 4

1406-66-2

Hyaluronic acid

Approved, Vet_approved

Phase 4

9004-61-9

53477741

Telavancin

Approved

Phase 4

372151-71-8

21014972 3081362

Insulin lispro

Approved

Phase 4

133107-64-9

16132438

Tedizolid phosphate

Approved

Phase 4

856867-55-5

11511576

Tedizolid

Approved, Investigational

Phase 4

856866-72-3

Colchicine

Approved

Phase 4

64-86-8

2833 6167

Fluticasone

Approved, Experimental

Phase 4

90566-53-3

4659387 5311101

Avibactam

Approved

Phase 4

1192500-31-4

Lactitol

Approved, Investigational

Phase 4

585-86-4

157355

Regadenoson

Approved, Investigational

Phase 4

313348-27-5

22451303 219024

Torasemide

Approved

Phase 4

56211-40-6

41781

Furosemide

Approved, Vet_approved

Phase 4

54-31-9

3440

Theophylline

Approved

Phase 4

58-55-9

2153

Basiliximab

Approved, Investigational

Phase 4

179045-86-4

Adefovir dipivoxil

Approved, Investigational

Phase 4

142340-99-6

60871

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

Interventional clinical trials:

(show top 50) (show all 3658)

#	Name	Status	NCT ID	Phase	Drugs
1	Use of the Endothelin-1 Antagonist Bosentan in Patients With Established Pulmonary Hypertension and Fibrotic Lung Disease. - A Randomised, Placebo-Controlled, Double-Blinded Study.	Unknown status	NCT00637065	Phase 4	Bosentan;Placebo
2	Prospective, Multicenter, Randomized, and Comparative Clinical Trials to Compare the Effects of Pioglitazone and Evogliptin on Hepatic Fibrosis in Patients With Chronic Hepatitis B With Significant Hepatic Fibrosis With Type 2 Diabetes	Unknown status	NCT04584242	Phase 4	gluconon tab 15mg;suganon tab 5mg
3	Effect of Azithromycin on Lipoproteins and Docosahexaenoic Acid in Patients With Cystic Fibrosis	Unknown status	NCT03045198	Phase 4	Azithromycin
4	Airway Infection, Inflammatory Markers and Exercise Capacity in Patients With Cystic Fibrosis and at Least One G551D Mutation Taking VX770 (Ivacaftor)	Unknown status	NCT01937325	Phase 4	ivacaftor;placebo
5	Impact of Immunonutrition on the Patients With Cystic Fibrosis	Unknown status	NCT02048592	Phase 4
6	Continuous-infusion Anti-pseudomonal β-lactams for the Treatment of Acute, Infective Pulmonary Exacerbations in Cystic Fibrosis	Unknown status	NCT01667094	Phase 4	Intermittent, short infusion Ceftazidime;Continuous infusion Ceftazidime;Intermittent, short infusion Meropenem;Continuous infusion Meropenem;Intermittent, short infusion Ticarcillin-clavulanate;Continuous infusion Ticarcillin-clavulanate;Intermittent, short infusion Cefepime;Continuous infusion Cefepime;Continuous infusion Piperacillin tazobactam;Intermittent, short infusion Piperacillin tazobactam
7	What Duration of Intravenous Antibiotic Therapy Should be Used in the Treatment of Infective Exacerbations of Cystic Fibrosis Chronically Colonised With Pseudomonas Aeruginosa	Unknown status	NCT01044719	Phase 4	Ceftazidime;Tobramycin;Meropenem
8	Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients	Unknown status	NCT01382368	Phase 4	Sildenafil
9	A Clinical Evaluation on Traditional Chinese Medicine Diagnosis and Treatment Program Blocking and Reversing Hepatitis B-related Liver Fibrosis - a Randomized, Controlled, Double-blind, Multi-center Clinical Trial	Unknown status	NCT01965418	Phase 4	Fufang Biejia Ruangan Tablet;Placebo
10	Improved Exercise Tolerance in Participants With PReserved Ejection Fraction by Spironolactone on Myocardial Fibrosis in Atrial Fibrillation	Unknown status	NCT02673463	Phase 4	Spironolactone;Placebo
11	Safety and Fibrosis Improvement of Grazoprevir and Elbasvir for HCV GT1 and GT6 With or Without HIV	Unknown status	NCT03037151	Phase 4	Grazaoprevir/Elbasavir;Grazaoprevir/Elbasavir/RBV
12	Interstitial Fibrosis in Protocol Biopsies of Renal Allografts: A Prospective, Randomised Trial of Sirolimus Versus Cyclosporine.(Fibrasic)	Unknown status	NCT00493194	Phase 4	sirolimus;cyclosporine;daclizumab
13	A Multi-Center Study to Assess the Efficacy and Safety of Traditional Chinese Medicine Combined With Entecavir for Patients With Refractory Liver Fibrosis in Liver Cirrhosis Due to HBV	Unknown status	NCT02241616	Phase 4	Entecavir+Fuzheng Huayu+TCM Granule
14	Efficacy and Safety of Switching to Tenofovir Alafenamide for Chronic Hepatitis B Patients With Advanced Fibrosis and Partial Virologic Responses to Oral Nucleos(t)Ide Analogues	Unknown status	NCT03798119	Phase 4	Tenofovir Alafenamide
15	Pentoxifylline Effect on Renal Function, Oxidative Stress, Inflammation, and Fibrosis Markers, and Quality of Life in Patients With Diabetic Nephropathy	Unknown status	NCT03664414	Phase 4	pentoxifylline
16	Vitamin D as an Adjunctive Treatment in Patients With Non-Cystic Fibrosis Bronchiectasis: a Double-blind Randomised Controlled Trial	Unknown status	NCT02507843	Phase 4	Cholecalciferol;Placebo
17	Randomized Study Comparing Switching to Raltegravir-based Antiretroviral Versus Maintaining Any Other Antiretroviral Therapy in HIV Monoinfected Patients Impact on Fatty Liver and Liver Fibrosis Assessed by Noninvasive Diagnostic Methods	Unknown status	NCT02210715	Phase 4	Isentress.
18	Effect of Advagraf on Arterial Stiffness and on Vascular Fibrosis Plasma Markers on de Novo Renal Transplant Patients	Unknown status	NCT02154854	Phase 4	Tacrolimus targeted half-dose;Tacrolimus targeted plain dose
19	Development of an Imaging Biomarker for Hepatic Fibrosis Using Gadoxetate Disodium	Unknown status	NCT01783314	Phase 4
20	Role of Innate and Adaptive Immunity After Acute Myocardial Infarction BATTLE-AMI Study (B And T Types of Lymphocytes Evaluation in Acute Myocardial Infarction)	Unknown status	NCT02428374	Phase 4	Rosuvastatin plus clopidogrel;Rosuvastatin plus ticagrelor;Simvastatin plus clopidogrel;Simvastatin plus ticagrelor
21	The Employing of the Bio-Hep-B PreS1/PreS2/S Hepatitis B Virus (HBV) Vaccine in New Born Babies From HBV Positive Palestinian Mothers	Unknown status	NCT01133184	Phase 4
22	Emtricitabine Plus Adefovir Dipivoxil for Naive Chinese HBV Related Cirrhosis Patients	Unknown status	NCT02327689	Phase 4	Emtricitabine plus adefovir dipivoxil
23	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial	Unknown status	NCT02948998	Phase 4	Spironolactone
24	The Effect of HVPG-Guided Individualized Therapy in Patients With Cirrhosis Related Esophagogastric Variceal Hemorrhage For Secondary Prophylaxis:A Randomized Controlled Trial	Unknown status	NCT02638415	Phase 4	Carvedilol
25	Entecavir for Patients With Decompensated HBV-Related Cirrhosis:a Prospective Randomized Controlled Trial	Unknown status	NCT00663182	Phase 4	Entecavir
26	Hemodynamic Profile of Terlipressin and Octreotide in Patients With Cirrhosis and Portal Hypertension. A Randomised, Single Blinded Clinical Trial.	Unknown status	NCT04353193	Phase 4	Terlipressin;Octreotide
27	Magnesium Deficiency in Cirrhotic Patients	Unknown status	NCT01894867	Phase 4
28	A Randomized, Placebo-Controlled, Double-Blind, Multi-Center Study to Assess the Efficacy and Safety of Fuzheng Huayu Combined With Entecavir in Liver Cirrhosis Patients Due to Hepatitis B Virus	Unknown status	NCT02241590	Phase 4	Entecavir + Placebo;Entecavir + Fuzheng Huayu Tablet
29	A Randomized Comparison of Two Albumin Administration Schedules for Spontaneous Bacterial Peritonitis	Unknown status	NCT00761098	Phase 4	Standard Care;Experimental
30	Efficacy and Safety of Early Administration of Tranexamic Acid in Cirrhotic Patients Presenting With Acute Upper Gastrointestinal Bleeding: a Multicenter, Randomized, Double Blind, Placebo-controlled Trial (Modified by amendment1)	Unknown status	NCT03023189	Phase 4	Tranexamic acid;Placebo
31	Telbivudine Renoprotective Effect in Patients With HBV-related Liver Cirrhosis	Unknown status	NCT01693679	Phase 4	Telbivudine, Lamivudine, Adefovir ,Enecavir
32	Rifaximin Predicts the Complications of Decompensated Cirrhosis: a Randomized Controlled Trial	Unknown status	NCT02074280	Phase 4	rifaximin
33	Randomized and Controlled Clinical Trial of Transfusional Requirements in Patients With Acute Gastrointestinal Bleeding.	Unknown status	NCT00414713	Phase 4
34	RCT Comparing the Efficacies of Endoscopic Band Ligation (EBL) and Combined Treatment of Beta-blocker and EBL for the Prevention of Esophageal Variceal Rebleeding in Patients With Previous Endoscopic Variceal Treatment	Unknown status	NCT00966082	Phase 4
35	The Effect of Carvedilol Vs Propranolol in Patients With Cirrhosis Related Esophagogastric Varices After Multiple Endoscopic Treatments For Secondary Prophylaxis:A Randomized Controlled Trial	Unknown status	NCT02385422	Phase 4	Carvedilol;Propranolol
36	Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy	Unknown status	NCT02401490	Phase 4	Human albumin;Placebo
37	Propofol and Fentanyl Versus Midazolam and Fentanyl for Sedation During Diagnostic or Therapeutic Gastrointestinal Endoscopy in Cirrhotic Patients	Unknown status	NCT00906139	Phase 4	Propofol;Midazolam;Fentanyl
38	RCT Comparing the Efficacies of Endoscopic Variceal Ligation (EBL) and Combined Treatment of Beta-blocker and EBL for the Prevention of Esophageal Variceal Rebleeding	Unknown status	NCT00966121	Phase 4
39	Insulin Therapy in the Inpatient Management of Cirrhotic Patients With Type 2 Diabetes	Unknown status	NCT01143948	Phase 4	Glargine & Glulisine;Regular insulin;NPH & regular insulin
40	Effect of Betablocker or Aldosterone Antagonist Therapy on Oxygenation, Peripheral and Cardiac Hemodynamics and Humoral Systems	Unknown status	NCT00332904	Phase 4	propranolol;spironolactone
41	Losartan in the Prevention of Sodium Retention and Ascites in Liver Cirrhosis - a Prospective Randomized Long-Term Study	Unknown status	NCT00239096	Phase 4	losartan (drug)
42	Randomized Controlled Trial Comparing Propranolol, Endoscopic Banding Ligation, and Combined Treatment to Prevent First Variceal Hemorrhage in Patients With Liver Cirrhosis	Unknown status	NCT00965900	Phase 4	Propranolol
43	Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis	Unknown status	NCT02470546	Phase 4	Metformin;Placebo
44	Effect of Vardenafil on Erectile Dysfunction and Portal Hemodynamics in Patients With Liver Cirrhosis	Unknown status	NCT02344823	Phase 4	Vardenafil;Placebo intake once daily
45	Randomized and Controlled Study of Endoscopic Ligation, Nadolol and Isosorbide Mononitrate vs Endoscopic Ligation and Nadolol Alone, or Associated With Isosorbide Mononitrate or Prazosin, Depending of the Hemodinamyc Response	Unknown status	NCT00563602	Phase 4
46	Bacterial Infections Associated With Healthcare (Healthcare-Associated) in Hospitalized Cirrhotic Patients: Randomized Study of Use of Traditional Empirical Antibiotic Therapy and Second-line Targeted at Multi-resistant Bacteria	Unknown status	NCT01820026	Phase 4	Imipenem;Vancomycin;azithromycin;Cefotaxime;Amoxicillin
47	A Randomised Trial Comparing Entacavir and Tenofovir in Patients With HBV Decompensated Cirrhosis	Unknown status	NCT02238860	Phase 4	Entacavir;Tenofovir
48	Prevention of Progression of Portal Hypertension in Compensated Cirrhosis Using Selective Hepatic Vasodilators. A Double-blind, Multicenter,Randomized Controlled Trial	Unknown status	NCT01282398	Phase 4	Simvastatin;placebo
49	Hemodynamic Effect of the Combination of Simvastatin With Non-cardioselective Beta Blockers in Patients With Cirrhosis and Clinically Significant Portal Hypertension	Unknown status	NCT01282385	Phase 4	Simvastatin;placebo
50	Rifaximin Reduces the Complications of Decompensated Cirrhosis	Unknown status	NCT02190357	Phase 4	Rifaximin

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

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

Potassium aminobenzoate

Sources

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 ²⁸
2	Congenital Fibrosis of Extraocular Muscles Type 1 ²⁸	KIF21A

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Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

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

MalaCards : Eye, Liver, Bone Marrow, Lung, Skeletal Muscle, Kidney, Bone

ODiseA: Brain, Skeletal Muscle

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Publications for Fibrosis of Extraocular Muscles, Congenital, 1

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

(show top 50) (show all 101)

#	Title	Authors	PMID	Year
1	KIF21A variant R954W in familial or sporadic cases of CFEOM1. ⁶² ⁵⁷ ⁵	Rudolph G...Meindl A	19551685	2009
2	Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. ⁶² ⁵⁷ ⁵	Lu S...Larsson C	18332320	2008
3	KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. ⁶² ⁵⁷ ⁵	Lin LK...Hwu WL	15827546	2005
4	Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. ⁶² ⁵⁷ ⁵	Ali M...Kumar A	15621877	2004
5	Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. ⁶² ⁵⁷ ⁵	Tiab L...Schorderet D	15621876	2004
6	Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). ⁶² ⁵⁷ ⁵	Yamada K...Engle EC	15223798	2004
7	Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ⁶² ⁵⁷ ⁵	Yamada K...Engle EC	14595441	2003
8	A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. ⁶² ⁵⁷ ⁵	Sener EC...Engle EC	10922204	2000
9	Congenital fibrosis of the extraocular muscles. ⁶² ⁵⁷	Heidary G...Hunter DG	18214786	2008
10	Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. ⁶² ⁵⁷	Yoshida K...Ikeda S	17551929	2007
11	Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. ⁶² ⁵⁷	Demer JL...Engle EC	15671279	2005
12	Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. ⁶² ⁵⁷	Mackey DA...Engle EC	12073023	2002
13	CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. ⁶² ⁵⁷	Engle EC...de Berardinis T	11882252	2002
14	Elevation of one eye during tooth brushing. ⁵⁷	Gottlob I...Engle EC	12208268	2002
15	Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). ⁵⁷	Black GC...Clayton-Smith J	9863593	1998
16	Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. ⁵⁷	Reck AC...Hatchwell E	9797671	1998
17	Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. ⁵⁷	Engle EC...Beggs AH	9066352	1997
18	Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. ⁵⁷	Engle EC...Beggs AH	7485159	1995
19	Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. ⁵⁷	Engle EC...Beggs AH	8075644	1994
20	Generalized fibrosis of the extraocular muscles. ⁵⁷	Apt L...Axelrod RN	677209	1978
21	Congenital general fibrosis of the extraocular muscles. ⁵⁷	Hansen E	5755737	1968
22	Congenital fibrosis of the extraocular muscles; a report of six cases. ⁵⁷	LAUGHLIN RC	13302348	1956
23	Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families. ⁶²	Chen M...Li L	36138147	2022
24	KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. ⁶²	Al-Haddad C...Engle E	33251926	2021
25	Tendon elongation with bovine pericardium in strabismus surgery-indications beyond Graves' orbitopathy. ⁶²	Hedergott A...Fricke J	32949299	2021
26	Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations. ⁶²	Ostos F...Dominguez-Gonzalez C	32453097	2020
27	Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. ⁶²	Heidary G...Hunter DG	31541710	2019
28	Congenital fibrosis of the extraocular muscles: review of recent literature. ⁶²	Price JM...Wasserman BN	31313749	2019
29	KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran. ⁶²	Ramahi M...Najafi M	30555664	2018
30	Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. ⁶²	Di Gioia SA...Engle EC	29887215	2018
31	A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles. ⁶²	Abu-Amero KK...Khan AO	29110737	2017
32	Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1. ⁶²	Chen H...Zhang Z	28930843	2017
33	KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. ⁶²	Chen J...Lin Y	27513105	2016
34	Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations. ⁶²	Bianchi S...Kammerer RA	27485312	2016
35	A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon. ⁶²	Kacar Bayram A...Caglayan AO	26190014	2015
36	Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. ⁶²	Miao W...Jiao Y	26186732	2015
37	Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. ⁶²	Sener EC...Sanac AS	25347047	2014
38	Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. ⁶²	Cheng L...Engle EC	24656932	2014
39	Maternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles. ⁶²	Liu G...Zhao C	24426772	2014
40	RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. ⁶²	Shaaban S...Engle EC	24091937	2013
41	CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor. ⁶²	van der Vaart B...Akhmanova A	24120883	2013
42	Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). ⁶²	Desai J...Engle EC	22465342	2012
43	[A family of congenital fibrosis of extraocular muscles associated with naso-sinusitis]. ⁶²	Zhou LH...Xing YQ	22800426	2012
44	KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1. ⁶²	Wang P...Zhang Q	21805025	2011
45	[A clinical analysis of 40 cases with congenital fibrosis of extraocular muscles]. ⁶²	Chen X...Ma HZ	22336062	2011
46	[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. ⁶²	Yan YS...Jiao HY	21983718	2011
47	The optic nerve head in congenital fibrosis of the extraocular muscles. ⁶²	Khan AO...Al-Tassan NA	21449832	2011
48	Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. ⁶²	Khan AO...Al Tassan N	21264235	2011
49	KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). ⁶²	Yang X...Zhang K	21042561	2010
50	Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. ⁶²	Demer JL...Engle EC	20393110	2010

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Genes for Fibrosis of Extraocular Muscles, Congenital, 1

Genes related to Fibrosis of Extraocular Muscles, Congenital, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KIF21A	Kinesin Family Member 21A	Protein Coding	1315.65	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	10922204 14595441 15223798 (more) 15621876 15621877 15827546 18332320 19551685
2	COL25A1	Collagen Type XXV Alpha 1 Chain	Protein Coding	5.62	DISEASES inferred ¹⁴
3	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	5.17	DISEASES inferred ¹⁴
4	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	5.1	DISEASES inferred ¹⁴
5	PHOX2A	Paired Like Homeobox 2A	Protein Coding	5.06	DISEASES inferred ¹⁴
6	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	4.48	DISEASES inferred ¹⁴
7	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	3.97	DISEASES inferred ¹⁴

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Variations for Fibrosis of Extraocular Muscles, Congenital, 1

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

⁵ (show top 50) (show all 124)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KIF21A	NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)	SNV	Pathogenic	2438	rs121912587	GRCh37: 12:39726038-39726038 GRCh38: 12:39332236-39332236
2	KIF21A	NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)	SNV	Pathogenic	2439	rs121912588	GRCh37: 12:39752128-39752128 GRCh38: 12:39358326-39358326
3	KIF21A	NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)	SNV	Pathogenic	2440	rs121912589	GRCh37: 12:39726410-39726410 GRCh38: 12:39332608-39332608
4	KIF21A	NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)	SNV	Pathogenic	2441	rs121912590	GRCh37: 12:39726409-39726409 GRCh38: 12:39332607-39332607
5	KIF21A	NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile)	SNV	Pathogenic	2442	rs267607200	GRCh37: 12:39726408-39726408 GRCh38: 12:39332606-39332606
6	KIF21A	NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)	SNV	Pathogenic Pathogenic	2437	rs121912586	GRCh37: 12:39726206-39726206 GRCh38: 12:39332404-39332404
7	KIF21A	NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)	SNV	Pathogenic Pathogenic	2436	rs121912585	GRCh37: 12:39726207-39726207 GRCh38: 12:39332405-39332405
8	KIF21A	NM_017641.3(KIF21A):c.-392G>C	SNV	Uncertain Significance	308607	rs886049354	GRCh37: 12:39837164-39837164 GRCh38: 12:39443362-39443362
9	KIF21A	NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val)	SNV	Uncertain Significance	883448	rs375541289	GRCh37: 12:39751176-39751176 GRCh38: 12:39357374-39357374
10	KIF21A	NM_001173464.2(KIF21A):c.3968T>C (p.Ile1323Thr)	SNV	Uncertain Significance	1319737		GRCh37: 12:39705347-39705347 GRCh38: 12:39311545-39311545
11	KIF21A	NM_001173464.2(KIF21A):c.10G>A (p.Ala4Thr)	SNV	Uncertain Significance	1709099		GRCh37: 12:39836763-39836763 GRCh38: 12:39442961-39442961
12	KIF21A	NM_001173464.2(KIF21A):c.1674-1G>A	SNV	Uncertain Significance	1709785		GRCh37: 12:39740307-39740307 GRCh38: 12:39346505-39346505
13	KIF21A	NM_001173464.2(KIF21A):c.4602_4606del (p.Thr1535fs)	DEL	Uncertain Significance	1710001		GRCh37: 12:39696892-39696896 GRCh38: 12:39303090-39303094
14	KIF21A	NM_017641.3(KIF21A):c.-245C>T	SNV	Uncertain Significance	308602	rs886049350	GRCh37: 12:39837017-39837017 GRCh38: 12:39443215-39443215
15	KIF21A	NM_017641.3(KIF21A):c.-339C>A	SNV	Uncertain Significance	308605	rs886049352	GRCh37: 12:39837111-39837111 GRCh38: 12:39443309-39443309
16	KIF21A	NM_017641.3(KIF21A):c.-203C>G	SNV	Uncertain Significance	308600	rs886049349	GRCh37: 12:39836975-39836975 GRCh38: 12:39443173-39443173
17	KIF21A	NM_017641.3(KIF21A):c.-345G>A	SNV	Uncertain Significance	308606	rs886049353	GRCh37: 12:39837117-39837117 GRCh38: 12:39443315-39443315
18	KIF21A	NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr)	SNV	Uncertain Significance	308567	rs886049344	GRCh37: 12:39726505-39726505 GRCh38: 12:39332703-39332703
19	KIF21A	NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu)	SNV	Uncertain Significance	308544	rs373406994	GRCh37: 12:39688290-39688290 GRCh38: 12:39294488-39294488
20	KIF21A	NM_001173464.2(KIF21A):c.*326T>A	SNV	Uncertain Significance	308541	rs886049337	GRCh37: 12:39687900-39687900 GRCh38: 12:39294098-39294098
21	KIF21A	NM_001173464.2(KIF21A):c.*1022A>T	SNV	Uncertain Significance	308527	rs886049331	GRCh37: 12:39687204-39687204 GRCh38: 12:39293402-39293402
22	KIF21A	NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val)	SNV	Uncertain Significance	308553	rs886049341	GRCh37: 12:39703401-39703401 GRCh38: 12:39309599-39309599
23	KIF21A	NM_001173464.2(KIF21A):c.-146G>A	SNV	Uncertain Significance	308596	rs886049347	GRCh37: 12:39836918-39836918 GRCh38: 12:39443116-39443116
24	KIF21A	NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu)	SNV	Uncertain Significance	308550	rs886049340	GRCh37: 12:39698655-39698655 GRCh38: 12:39304853-39304853
25	KIF21A	NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn)	SNV	Uncertain Significance	308565	rs886049343	GRCh37: 12:39726451-39726451 GRCh38: 12:39332649-39332649
26	KIF21A	NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr)	SNV	Uncertain Significance	308545	rs886049339	GRCh37: 12:39695322-39695322 GRCh38: 12:39301520-39301520
27	KIF21A	NM_001173464.2(KIF21A):c.268-14G>T	SNV	Uncertain Significance	308591	rs762377796	GRCh37: 12:39763727-39763727 GRCh38: 12:39369925-39369925
28	KIF21A	NM_001173464.2(KIF21A):c.*1010T>C	SNV	Uncertain Significance	308528	rs886049332	GRCh37: 12:39687216-39687216 GRCh38: 12:39293414-39293414
29	KIF21A	NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn)	SNV	Uncertain Significance	308556	rs886049342	GRCh37: 12:39711911-39711911 GRCh38: 12:39318109-39318109
30	KIF21A	NM_001173464.2(KIF21A):c.825C>T (p.Leu275=)	SNV	Uncertain Significance	308588	rs143876096	GRCh37: 12:39760230-39760230 GRCh38: 12:39366428-39366428
31	KIF21A	NM_001173464.2(KIF21A):c.-147C>A	SNV	Uncertain Significance	308597	rs886049348	GRCh37: 12:39836919-39836919 GRCh38: 12:39443117-39443117
32	KIF21A	NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr)	SNV	Uncertain Significance	308551	rs748150530	GRCh37: 12:39698712-39698712 GRCh38: 12:39304910-39304910
33	KIF21A	NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr)	SNV	Uncertain Significance	308583	rs886049345	GRCh37: 12:39751134-39751134 GRCh38: 12:39357332-39357332
34	KIF21A	NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys)	SNV	Uncertain Significance	308566	rs749644826	GRCh37: 12:39726467-39726467 GRCh38: 12:39332665-39332665
35	KIF21A	NM_001173464.2(KIF21A):c.*211C>G	SNV	Uncertain Significance	308543	rs886049338	GRCh37: 12:39688015-39688015 GRCh38: 12:39294213-39294213
36	KIF21A	NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=)	SNV	Uncertain Significance	308569	rs148166854	GRCh37: 12:39726862-39726862 GRCh38: 12:39333060-39333060
37	KIF21A	NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe)	SNV	Uncertain Significance	308572	rs779688115	GRCh37: 12:39727070-39727070 GRCh38: 12:39333268-39333268
38	KIF21A	NM_001173464.2(KIF21A):c.*1157A>T	SNV	Uncertain Significance	308526	rs886049330	GRCh37: 12:39687069-39687069 GRCh38: 12:39293267-39293267
39	KIF21A	NM_001173464.2(KIF21A):c.*935A>G	SNV	Uncertain Significance	308529	rs886049333	GRCh37: 12:39687291-39687291 GRCh38: 12:39293489-39293489
40	KIF21A	NM_001173464.2(KIF21A):c.*451A>G	SNV	Uncertain Significance	308538	rs183559712	GRCh37: 12:39687775-39687775 GRCh38: 12:39293973-39293973
41	KIF21A	NM_001173464.2(KIF21A):c.-41G>A	SNV	Uncertain Significance	308595	rs886049346	GRCh37: 12:39836813-39836813 GRCh38: 12:39443011-39443011
42	KIF21A	NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs)	DUP	Uncertain Significance	632188	rs1565724702	GRCh37: 12:39711895-39711896 GRCh38: 12:39318093-39318094
43	KIF21A	NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs)	INSERT	Uncertain Significance	632189	rs1565724893	GRCh37: 12:39711905-39711906 GRCh38: 12:39318103-39318104
44	KIF21A	NM_001173464.2(KIF21A):c.2418+2T>C	SNV	Uncertain Significance	632190	rs1565839016	GRCh37: 12:39730896-39730896 GRCh38: 12:39337094-39337094
45	KIF21A	NM_001173464.2(KIF21A):c.*366C>T	SNV	Uncertain Significance	880992	rs1942069691	GRCh37: 12:39687860-39687860 GRCh38: 12:39294058-39294058
46	KIF21A	NM_001173464.2(KIF21A):c.*65G>A	SNV	Uncertain Significance	880994	rs888970061	GRCh37: 12:39688161-39688161 GRCh38: 12:39294359-39294359
47	KIF21A	NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile)	SNV	Uncertain Significance	881049	rs1946526630	GRCh37: 12:39725563-39725563 GRCh38: 12:39331761-39331761
48	KIF21A	NM_001173464.2(KIF21A):c.681T>C (p.His227=)	SNV	Uncertain Significance	881093	rs753495640	GRCh37: 12:39760886-39760886 GRCh38: 12:39367084-39367084
49	KIF21A	NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp)	SNV	Uncertain Significance	881506	rs1458182449	GRCh37: 12:39726894-39726894 GRCh38: 12:39333092-39333092
50	KIF21A	NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg)	SNV	Uncertain Significance	881507	rs764601859	GRCh37: 12:39726905-39726905 GRCh38: 12:39333103-39333103

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

⁷³ (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

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Expression for Fibrosis of Extraocular Muscles, Congenital, 1

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

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Pathways for Fibrosis of Extraocular Muscles, Congenital, 1

Pathways related to Fibrosis of Extraocular Muscles, Congenital, 1 according to GeneCards Suite gene sharing:

(show all 20)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁶ Show member pathways Adaptive Immune System ⁶⁶ Antigen processing: Ubiquitination and Proteasome degradation ⁶⁶ Neddylation ⁶⁶	13.12	TUBB4B TUBB2A TUBB1 COL2A1
2	Vesicle-mediated transport ⁶⁶ Show member pathways Membrane Trafficking ⁶⁶	12.98	TUBB4B TUBB2A TUBB1 KIF21A
3	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.9	TUBB4B TUBB2A TUBB1 KIF21A
4	Golgi-to-ER retrograde transport ⁶⁶ Show member pathways COPI-dependent Golgi-to-ER retrograde traffic ⁶⁶ Factors involved in megakaryocyte development and platelet production ⁶⁶ Intra-Golgi and retrograde Golgi-to-ER traffic ⁶⁶ Kinesins ⁶⁶ MHC class II antigen presentation ⁶⁶	12.63	TUBB4B TUBB2A TUBB1 KIF21A
5	Alzheimer's disease and miRNA effects ⁷⁴ Show member pathways Alzheimer's disease ⁷⁴	12.48	TUBB4B TUBB2A TUBB1
6	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.45	TUBB4B TUBB2A TUBB1
7	Selective autophagy ⁶⁶ Show member pathways Aggrephagy ⁶⁶ Autophagy ⁶⁶ Lipophagy ⁶⁶ Macroautophagy ⁶⁶ Pexophagy ⁶⁶	12.37	TUBB4B TUBB2A TUBB1
8	HCMV Infection ⁶⁶ Show member pathways HCMV Early Events ⁶⁶ HCMV Late Events ⁶⁶	12.34	TUBB4B TUBB2A TUBB1
9	COPI-independent Golgi-to-ER retrograde traffic ⁶⁶ Show member pathways Cell cycle Spindle assembly and chromosome separation ²² Cytoskeleton remodeling Keratin filaments ²² Cytoskeleton remodeling Neurofilaments ²² HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand ⁶⁶	12.19	TUBB4B TUBB2A TUBB1
10	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding ⁶⁶ Show member pathways Carboxyterminal post-translational modifications of tubulin ⁶⁶ Cellular proteostasis ⁷⁴ Folding of actin by CCT/TriC ⁶⁶ Formation of tubulin folding intermediates by CCT/TriC ⁶⁶ Initiation of Nuclear Envelope (NE) Reformation ⁶⁶ Nuclear Envelope (NE) Reassembly ⁶⁶ Post-chaperonin tubulin folding pathway ⁶⁶ Prefoldin mediated transfer of substrate to CCT/TriC ⁶⁶ Sealing of the nuclear envelope (NE) by ESCRT-III ⁶⁶	12.15	TUBB4B TUBB2A TUBB1
11	Signaling by Hedgehog ⁶⁶ Show member pathways Hedgehog 'off' state ⁶⁶	12.09	TUBB1 TUBB2A TUBB4B
12	Gap junction trafficking ⁶⁶ Show member pathways Cell adhesion Gap junctions ²² Entry of Influenza Virion into Host Cell via Endocytosis ⁶⁶ Formation of annular gap junctions ⁶⁶ Gap junction assembly ⁶⁶ Gap junction degradation ⁶⁶ Gap junction trafficking and regulation ⁶⁶ Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane ⁶⁶ Regulation of gap junction activity ⁶⁶ Transport of connexons to the plasma membrane ⁶⁶	12.05	TUBB4B TUBB2A TUBB1
13	EphB-EphrinB Signaling ⁶⁴ Show member pathways Cytoskeleton remodeling Reverse signaling by ephrin B ²² Ephrin-Eph Signaling ⁶⁴	12.01	TUBB4B TUBB2A TUBB1
14	Chaperonin-mediated protein folding ⁶⁶ Show member pathways Association of TriC/CCT with target proteins during biosynthesis ⁶⁶ Protein folding ⁶⁶	11.94	TUBB4B TUBB2A TUBB1
15	Activation of NMDA receptors and postsynaptic events ⁶⁶ Show member pathways Activation of RAC1 downstream of NMDARs ⁶⁶ Assembly and cell surface presentation of NMDA receptors ⁶⁶ Post NMDA receptor activation events ⁶⁶	11.89	TUBB4B TUBB2A TUBB1
16	Development Slit-Robo signaling ²² Show member pathways Neurophysiological process Receptor-mediated axon growth repulsion ²² Pathogenic Escherichia coli infection ⁷⁴	11.8	TUBB4B TUBB2A TUBB1
17	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	11.71	TUBB4B TUBB2A TUBB1
18	Regulation of CFTR activity (norm and CF) ²² Show member pathways Regulation of CFTR gating (normal and CF) ²² wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) ²²	11.55	TUBB4B TUBB2A TUBB1
19	Activation of AMPK downstream of NMDARs ⁶⁶ Show member pathways RHO GTPases activate IQGAPs ⁶⁶ Translocation of SLC2A4 (GLUT4) to the plasma membrane ⁶⁶	11.26	TUBB4B TUBB2A TUBB1
20	Intraflagellar transport ⁶⁶	10.53	TUBB4B TUBB2A TUBB1

Sources

GO Terms for Fibrosis of Extraocular Muscles, Congenital, 1

Cellular components related to Fibrosis of Extraocular Muscles, Congenital, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	microtubule cytoskeleton	GO:0015630	9.73	TUBB4B TUBB2A TUBB1
2	mitotic spindle	GO:0072686	9.63	TUBB4B TUBB2A TUBB1
3	microtubule	GO:0005874	9.56	TUBB4B TUBB2A TUBB1 KIF21A
4	intercellular bridge	GO:0045171	9.1	TUBB4B TUBB2A TUBB1

Biological processes related to Fibrosis of Extraocular Muscles, Congenital, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitotic cell cycle	GO:0000278	9.63	TUBB4B TUBB2A TUBB1
2	microtubule cytoskeleton organization	GO:0000226	9.43	TUBB4B TUBB2A TUBB1
3	microtubule-based process	GO:0007017	8.8	TUBB4B TUBB2A TUBB1

Molecular functions related to Fibrosis of Extraocular Muscles, Congenital, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GTPase activity	GO:0003924	9.63	TUBB4B TUBB2A TUBB1
2	extracellular matrix structural constituent conferring tensile strength	GO:0030020	9.26	COL2A1 COL25A1
3	structural constituent of cytoskeleton	GO:0005200	9.1	TUBB4B TUBB2A TUBB1