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:

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:



External Ids:

Disease Ontology 11 DOID:0081015
OMIM® 57 135700
OMIM Phenotypic Series 57 PS135700
UMLS 71 C0016059 C1302995 C1851102 more

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.

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:



Diseases related to Fibrosis of Extraocular Muscles, Congenital, 1

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 Frequency Orphanet Frequency 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

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
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
2
Simvastatin Approved Phase 4 79902-63-9 54454
3
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
4
Clavulanic acid Approved, Vet_approved Phase 4 58001-44-8 5280980
5
Vancomycin Approved Phase 4 1404-90-6 14969
6
Isosorbide dinitrate Approved, Investigational Phase 4 87-33-2 3780 6883
7
Isosorbide Approved, Investigational Phase 4 652-67-5 99937 12597
8
Prazosin Approved Phase 4 19216-56-9 4893
9
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
10
Tranexamic acid Approved Phase 4 1197-18-8 5526
11
Magnesium oxide Approved Phase 4 1309-48-4 14792
12
Insulin glulisine Approved Phase 4 207748-29-6
13
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
14
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
15
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
16
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
17
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
18
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
19
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
20
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
21
Losartan Approved Phase 4 114798-26-4 3961
22
Warfarin Approved Phase 4 81-81-2, 129-06-6 54678486
23
Ceftolozane Approved, Investigational Phase 4 689293-68-3 75984602
24
Azithromycin Approved Phase 4 83905-01-5 447043
25
Amikacin Approved, Investigational, Vet_approved Phase 4 37517-28-5, 39831-55-5 37768
26
Aztreonam Approved Phase 4 78110-38-0 5742832
27
Tamoxifen Approved Phase 4 10540-29-1, 54965-24-1 2733526
28
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
29
Fosfomycin Approved Phase 4 23155-02-4 446987
30
Bevacizumab Approved, Investigational Phase 4 216974-75-3 135329020
31
Atropine Approved, Vet_approved Phase 4 101-31-5, 5908-99-6, 51-55-8 3661 154417 174174
32
Insulin glargine Approved Phase 4 160337-95-1 118984454
33
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
34
Tocopherol Approved, Investigational Phase 4 1406-66-2
35
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
36
Telavancin Approved Phase 4 372151-71-8 21014972 3081362
37
Insulin lispro Approved Phase 4 133107-64-9 16132438
38
Tedizolid phosphate Approved Phase 4 856867-55-5 11511576
39
Tedizolid Approved, Investigational Phase 4 856866-72-3
40
Colchicine Approved Phase 4 64-86-8 2833 6167
41
Fluticasone Approved, Experimental Phase 4 90566-53-3 4659387 5311101
42
Avibactam Approved Phase 4 1192500-31-4
43
Lactitol Approved, Investigational Phase 4 585-86-4 157355
44
Regadenoson Approved, Investigational Phase 4 313348-27-5 22451303 219024
45
Torasemide Approved Phase 4 56211-40-6 41781
46
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
47
Theophylline Approved Phase 4 58-55-9 2153
48
Basiliximab Approved, Investigational Phase 4 179045-86-4
49
Adefovir dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
50
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

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

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

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
19551685 2009
2
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. 62 57 5
18332320 2008
3
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. 62 57 5
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
15621877 2004
5
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. 62 57 5
15621876 2004
6
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 62 57 5
15223798 2004
7
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 62 57 5
14595441 2003
8
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. 62 57 5
10922204 2000
9
Congenital fibrosis of the extraocular muscles. 62 57
18214786 2008
10
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. 62 57
17551929 2007
11
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. 62 57
15671279 2005
12
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. 62 57
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
11882252 2002
14
Elevation of one eye during tooth brushing. 57
12208268 2002
15
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). 57
9863593 1998
16
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. 57
9797671 1998
17
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. 57
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
7485159 1995
19
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. 57
8075644 1994
20
Generalized fibrosis of the extraocular muscles. 57
677209 1978
21
Congenital general fibrosis of the extraocular muscles. 57
5755737 1968
22
Congenital fibrosis of the extraocular muscles; a report of six cases. 57
13302348 1956
23
Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families. 62
36138147 2022
24
KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3. 62
33251926 2021
25
Tendon elongation with bovine pericardium in strabismus surgery-indications beyond Graves' orbitopathy. 62
32949299 2021
26
Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations. 62
32453097 2020
27
Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. 62
31541710 2019
28
Congenital fibrosis of the extraocular muscles: review of recent literature. 62
31313749 2019
29
KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran. 62
30555664 2018
30
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. 62
29887215 2018
31
A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles. 62
29110737 2017
32
Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1. 62
28930843 2017
33
KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3. 62
27513105 2016
34
Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations. 62
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
26190014 2015
36
Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study. 62
26186732 2015
37
Strabismus surgery in congenital fibrosis of the extraocular muscles: a paradigm. 62
25347047 2014
38
Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling. 62
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
24426772 2014
40
RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia. 62
24091937 2013
41
CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor. 62
24120883 2013
42
Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 62
22465342 2012
43
[A family of congenital fibrosis of extraocular muscles associated with naso-sinusitis]. 62
22800426 2012
44
KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1. 62
21805025 2011
45
[A clinical analysis of 40 cases with congenital fibrosis of extraocular muscles]. 62
22336062 2011
46
[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I]. 62
21983718 2011
47
The optic nerve head in congenital fibrosis of the extraocular muscles. 62
21449832 2011
48
Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. 62
21264235 2011
49
KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). 62
21042561 2010
50
Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations. 62
20393110 2010

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

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

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
Show member pathways
13.12 TUBB4B TUBB2A TUBB1 COL2A1
2
Show member pathways
12.98 TUBB4B TUBB2A TUBB1 KIF21A
3
Show member pathways
12.9 TUBB4B TUBB2A TUBB1 KIF21A
4
Show member pathways
12.63 TUBB4B TUBB2A TUBB1 KIF21A
5
Show member pathways
12.48 TUBB4B TUBB2A TUBB1
6
Show member pathways
12.45 TUBB4B TUBB2A TUBB1
7
Show member pathways
12.37 TUBB4B TUBB2A TUBB1
8
Show member pathways
12.34 TUBB4B TUBB2A TUBB1
9
Show member pathways
12.19 TUBB4B TUBB2A TUBB1
10
Show member pathways
12.15 TUBB4B TUBB2A TUBB1
11
Show member pathways
12.09 TUBB1 TUBB2A TUBB4B
12
Show member pathways
12.05 TUBB4B TUBB2A TUBB1
13
Show member pathways
12.01 TUBB4B TUBB2A TUBB1
14
Show member pathways
11.94 TUBB4B TUBB2A TUBB1
15
Show member pathways
11.89 TUBB4B TUBB2A TUBB1
16
Show member pathways
11.8 TUBB4B TUBB2A TUBB1
17
Show member pathways
11.71 TUBB4B TUBB2A TUBB1
18
Show member pathways
11.55 TUBB4B TUBB2A TUBB1
19
Show member pathways
11.26 TUBB4B TUBB2A TUBB1
20 10.53 TUBB4B TUBB2A TUBB1

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

Sources for Fibrosis of Extraocular Muscles, Congenital, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....