CFEOM1
MCID: FBR046
MIFTS: 57

Fibrosis of Extraocular Muscles, Congenital, 1 (CFEOM1)

Categories: 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 56 73 29 13 6 71
Fibrosis of Extraocular Muscles, Congenital, 3b 56 73 29 6 71
Fibrosis 43 17 71
Blepharoptosis with Absent Eye Movements 56 73
Cfeom1 56 73
Fibrosis, Extraocular Muscles, Congenital, Type 1 39
Congenital Fibrosis of the Extraocular Muscles 71
Ophthalmoplegia, Congenital 56
Congenital Ophthalmoplegia 73
Feom1 Locus 56
Cfeom3b 73
Feom1 73

Characteristics:

OMIM:

56
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:

31
fibrosis of extraocular muscles, congenital, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 135700
OMIM Phenotypic Series 56 PS135700
UMLS 71 C0016059 C1302995 C1851102 more

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

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.

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 polydipsia. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (Kinesin Family Member 21A). The drugs Prazosin and Vancomycin have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and kidney, and related phenotypes are esotropia and exotropia

OMIM : 56 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)

Wikipedia : 74 Congenital fibrosis of the extraocular muscles, is a class of rare genetic disorders affecting one or... 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 2440)
# Related Disease Score Top Affiliating Genes
1 cystic fibrosis 13.0
2 pulmonary fibrosis, idiopathic 12.9
3 oral submucous fibrosis 12.7
4 pulmonary fibrosis 12.7
5 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 12.7
6 congenital hepatic fibrosis 12.6
7 retroperitoneal fibrosis 12.6
8 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 12.6
9 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 12.5
10 nephrogenic systemic fibrosis 12.5
11 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 12.5
12 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 12.5
13 hepatic fibrosis, severe due to schistosoma mansoni infection 12.5
14 combined pulmonary fibrosis-emphysema syndrome 12.5
15 fibrosis, neurodegeneration, and cerebral angiomatosis 12.5
16 diffuse pulmonary fibrosis 12.5
17 cystic fibrosis, modifier of, 1 12.4
18 endomyocardial fibrosis 12.4
19 localized pulmonary fibrosis 12.4
20 renal fibrosis 12.4
21 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 12.4
22 fibrosis of extraocular muscles, congenital, 5 12.4
23 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 12.3
24 postinflammatory pulmonary fibrosis 12.3
25 fibrosis of extraocular muscles, congenital, 3c 12.3
26 fibrosis of extraocular muscles, congenital, with synergistic divergence 12.3
27 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.3
28 coach syndrome 12.2
29 preretinal fibrosis 12.2
30 hermansky-pudlak syndrome with pulmonary fibrosis 12.2
31 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 12.2
32 cystic fibrosis and congenital absence of the vas deferens 12.2
33 pulmonary fibrosis, familial 12.2
34 tropical endomyocardial fibrosis 12.2
35 airway-centered interstitial fibrosis 12.2
36 isolated congenital hepatic fibrosis 12.2
37 hermansky-pudlak syndrome without pulmonary fibrosis 12.1
38 muscular fibrosis multifocal obstructed vessels 12.0
39 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome 12.0
40 bronchiectasis with or without elevated sweat chloride 1 12.0
41 idiopathic interstitial pneumonia 11.9
42 myelofibrosis 11.9
43 igg4-related disease 11.9
44 bronchiectasis with or without elevated sweat chloride 2 11.9
45 bronchiectasis with or without elevated sweat chloride 3 11.9
46 congenital disorder of glycosylation, type ib 11.9
47 acute interstitial pneumonia 11.9
48 tukel syndrome 11.8
49 fibrosclerosis, multifocal 11.8
50 diabetes mellitus, neonatal, with congenital hypothyroidism 11.8

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 esotropia 31 HP:0000565
2 exotropia 31 HP:0000577
3 bilateral ptosis 31 HP:0001488
4 congenital fibrosis of extraocular muscles 31 HP:0001491
5 compensatory chin elevation 31 HP:0001477
6 restrictive external ophthalmoplegia 31 HP:0007936
7 levator palpebrae superioris atrophy 31 HP:0012241
8 superior rectus atrophy 31 HP:0012242
9 sensory exotropia 31 HP:0031721
10 secondary esotropia 31 HP:0031723

Symptoms via clinical synopsis from OMIM:

56
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

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


seizures, muscle weakness, polydipsia, fever, dyspnea, edema, cachexia, ophthalmoplegia, vertigo, headache, syncope, cyanosis, icterus, 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 999)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prazosin Approved Phase 4 19216-56-9 4893
2
Vancomycin Approved Phase 4 1404-90-6 14969 441141
3
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
4
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
5
AT-101 Approved, Investigational Phase 4 652-67-5, 90141-22-3 12597
6
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
7
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
8
Fenofibrate Approved Phase 4 49562-28-9 3339
9
Procaine Approved, Investigational, Vet_approved Phase 4 59-46-1 4914
10
Hydralazine Approved Phase 4 86-54-4 3637
11
Insulin glulisine Approved Phase 4 207748-29-6
12
Tranexamic Acid Approved Phase 4 1197-18-8 5526
13
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
14
Magnesium oxide Approved Phase 4 1309-48-4 14792
15
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
16
Ticagrelor Approved Phase 4 274693-27-5 9871419
17
Chlorthalidone Approved Phase 4 77-36-1 2732
18
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
19
Imipenem Approved Phase 4 74431-23-5, 64221-86-9 104838
20
Metronidazole Approved Phase 4 443-48-1 4173
21
Insulin glargine Approved Phase 4 160337-95-1
22
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
23
Altretamine Approved Phase 4 645-05-6 2123
24
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
25
Enalaprilat Approved Phase 4 76420-72-9 6917719
26
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
27
Avibactam Approved Phase 4 1192500-31-4
28
Bevacizumab Approved, Investigational Phase 4 216974-75-3
29
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
30
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
31
Praziquantel Approved, Investigational, Vet_approved Phase 4 55268-74-1 4891
32
Fosfomycin Approved Phase 4 23155-02-4 446987
33
Simvastatin Approved Phase 4 79902-63-9 54454
34
Telavancin Approved Phase 4 372151-71-8
35
Tedizolid phosphate Approved Phase 4 856867-55-5
36
Tedizolid Approved, Investigational Phase 4 856866-72-3
37
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
38
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
39
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
40
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
41
Insulin detemir Approved Phase 4 169148-63-4 5311023
42
Povidone-iodine Approved Phase 4 25655-41-8
43
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
44
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
45
Ranibizumab Approved Phase 4 347396-82-1 459903
46
Amlodipine Approved Phase 4 88150-42-9 2162
47
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
48
Theophylline Approved Phase 4 58-55-9 2153
49
Atorvastatin Approved Phase 4 134523-00-5 60823
50
Nelfinavir Approved Phase 4 159989-64-7 64143

Interventional clinical trials:

(show top 50) (show all 5186)
# Name Status NCT ID Phase Drugs
1 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
2 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
3 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
4 Development of an Imaging Biomarker for Hepatic Fibrosis Using Gadoxetate Disodium Unknown status NCT01783314 Phase 4
5 Telbivudine Renoprotective Effect in Patients With HBV-related Liver Cirrhosis Unknown status NCT01693679 Phase 4 Telbivudine, Lamivudine, Adefovir ,Enecavir
6 Use of Roflumilast to Prevent Exacerbations in Fibrotic Sarcoidosis Patients (REFS) Unknown status NCT01830959 Phase 4 Roflumilast;Placebo
7 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
8 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
9 An Open-label Randomized Controlled Clinical Trial to Assess the Efficacy and Safety of the Conversion to Everolimus 3 Months After Kidney Transplantation. Unknown status NCT01608412 Phase 4 Tacrolimus;Everolimus
10 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
11 The Efficacy and Safety Study of Magnesium Isoglycyrrhizinate Injection Followed by Diammonium Glycyrrhizinate Enteric-coated Capsules and Combined With Entecavir on the Treatment of Chronic Hepatitis B Unknown status NCT03349008 Phase 4 Entecavir;Magnesium Isoglycyrrhizinate;Diammonium Glycyrrhizinate;Magnesium Isoglycyrrhizinate Placebo;Diammonium Glycyrrhizinate Placebo
12 A Randomized Prospective Trial of N-acetyl Cystein in Patients With Peritoneal Dialysis Unknown status NCT01111422 Phase 4 N-acetylcysteine
13 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
14 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
15 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
16 A Randomized, Open Label, Phase IV, Multicenter Study for Efficacy and Safety of Lamivudine Versus Entecarvir Therapy in HBV-related Advanced Liver Disease Patients With High Viral Load and Normal or Slightly Elevated Transaminase Unknown status NCT00823550 Phase 4 Entecavir;Lamivudine
17 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
18 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
19 Efficacy of Long-term Telbivudine Treatment on Histological Improvements in Patients With Chronic Hepatitis B (EFFORT Further Extension Study) Unknown status NCT02826070 Phase 4 Telbivudine;Adefovir dipivoxil
20 Effects of Thalidomide on Left Ventricular Morphology and Function in Patients With Congestive Heart Failure - The THUNDER Trial Unknown status NCT01640639 Phase 4 Thalidomide;Placebo
21 Impact of a Mineralocorticoid Receptor Antagonist on Chronic Histological Changes in Renal Allograft Unknown status NCT01510795 Phase 4 spironolactone
22 Effect of Ursodeoxycholic Acid on Peritoneal Function in Patients on Peritoneal Dialysis Unknown status NCT02338635 Phase 4 Ursodeoxycholic Acid
23 Pirfenidone for Progressive Fibrotic Sarcoidosis Unknown status NCT03260556 Phase 4 Pirfenidone;Placebos
24 Efficacy of Pentoxyfylline Addition to a Treatment Scheme Based on Interferon Alpha and Ribavirin on Hepatitis C Virus Coinfected HIV Patients, Considering Interleukin 28B Polymorphism rs12979860 Unknown status NCT02008214 Phase 4 Pentoxifylline;Placebo
25 A Randomised Trial Comparing Entacavir and Tenofovir in Patients With HBV Decompensated Cirrhosis Unknown status NCT02238860 Phase 4 Entacavir;Tenofovir
26 Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis Unknown status NCT02470546 Phase 4 Metformin;Placebo
27 Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy Unknown status NCT02401490 Phase 4 Human albumin;Placebo
28 Clinical Study of Telbivudine on Liver Cirrhosis in Patients With Chronic Hepatitis B Unknown status NCT01380951 Phase 4 telbivudine
29 An Efficacy and Safety Study Comparing Pegylated-Interferon and Ribavirin Plus Metformin to Pegylated-Interferon and Ribavirin in the Treatment of naïve Patients With Genotype 1 Chronic HCV Infection and Insulin Resistance Unknown status NCT00370617 Phase 4 metformin
30 A Randomized Comparison of Rifaximin Versus Lactulose in Hospitalized Cirrhotic Patients With Progressive Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
31 A Multicenter, Randomized, Open, Parallel Controlled Clinical Study on the Efficacy and Safety of the Treatment of Cyclomastopathy With Xiaoru Sanjie Capsule Unknown status NCT02929420 Phase 4 Xiaoru Sanjie capsules;Xiao Yao pills
32 Effect of Vardenafil on Erectile Dysfunction and Portal Hemodynamics in Patients With Liver Cirrhosis Unknown status NCT02344823 Phase 4 Vardenafil;Placebo intake once daily
33 Emtricitabine Plus Adefovir Dipivoxil for Naive Chinese HBV Related Cirrhosis Patients Unknown status NCT02327689 Phase 4 Emtricitabine plus adefovir dipivoxil
34 Comparison of 3g Versus 2g Mycophenolate Mofetil in Combination With Tacrolimus on Progression of Chronic Histology Changes in Kidney Transplant Recipients Unknown status NCT01860183 Phase 4 Mycophenolate mofetil
35 Aerosolized Antibiotics in the Treatment of Ventilator Associated Pneumonia: A Pilot Study Unknown status NCT02478710 Phase 4 Aerosolized Tobramycin or Vancomycin;Aerosolized Placebo
36 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
37 Phase 4 Study: Comparison of Myfortic and Early Rapamycin Conversion vs. Low-Dose Tacrolimus in Preventing Acute Rejection and Chronic Allograft Fibrosis: A Protocol Biopsy Directed Approach Unknown status NCT00896012 Phase 4 Rapamune (sirolimus/rapamycin);Tacrolimus
38 A-PACT: The Use of Inhaled Aztreonam to Eliminate or Decrease the Bacterial Burden of Pseudomonas Aeruginosa in Children With a Tracheostomy Tube. Unknown status NCT03158116 Phase 4 Inhaled Aztreonam
39 Phase IV Study of the Efficacy of Entecavir in Patients With Chronic Hepatitis B Virus Infection and Persistently Normal Alanine Aminotransferase Unknown status NCT01833611 Phase 4 Entecavir;placebo
40 A Prospective Randomized Controlled Trial of Efficacy and Safety of Anticoagulant Therapy With Low Molecular Weight Heparin and Warfarin in Portal Vein Thrombosis of Liver Cirrhosis Unknown status NCT04173429 Phase 4 Low molecular weight heparin (LMWH), warfarin
41 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
42 The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms: A Randomized, Double-Blind, Placebo-Controlled Trial Unknown status NCT00866866 Phase 4 N-Acetyl Cysteine;Placebo
43 A Randomised, Double-Blinded, Placebo-Controlled Trial Using Cardiovascular Magnetic Resonance (CMR) Scanning to Assess Remodelling and Regression of Fibrosis in Cardiomyopathy With Eplerenone Unknown status NCT00401856 Phase 4 Eplerenone;Placebo
44 Treatment of Chronic Hepatitis C Patients With Persistently Normal Alanine Aminotransferase Levels With Peginterferon α-2a (40 kDa) Plus Ribavirin Unknown status NCT00575627 Phase 4 Peg-Interferon alpha2a plus Ribavirin
45 Effect of Betablocker or Aldosterone Antagonist Therapy on Oxygenation, Peripheral and Cardiac Hemodynamics and Humoral Systems Unknown status NCT00332904 Phase 4 propranolol;spironolactone
46 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
47 The Effect of Branched-chain Amino Acid on the Improvement of Serum Albumin Level in Cirrhotic Patients With Ascites: A Multi-center, Randomized, Double-blind, Placebo-controlled, Investigator Initiated Clinical Trial Unknown status NCT02755701 Phase 4 Branched-chain Amino Acid;Placebo
48 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
49 Entecavir for Patients With Decompensated HBV-Related Cirrhosis:a Prospective Randomized Controlled Trial Unknown status NCT00663182 Phase 4 Entecavir
50 Branched-chain Amino Acid (BCAA) on Progression of Advanced Liver Disease (BRAVE): Korean Nation-wide Multicenter Retrospective and Prospective Observational Cohort Study Unknown status NCT02837302 Phase 4 Livact

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

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


Potassium aminobenzoate

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:

40
Liver, Lung, Kidney, Testes, Heart, Bone, Breast

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

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

(show top 50) (show all 30019)
# Title Authors PMID Year
1
KIF21A variant R954W in familial or sporadic cases of CFEOM1. 6 56
19551685 2009
2
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. 6 56
18332320 2008
3
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. 6 56
15827546 2005
4
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. 6 56
15621876 2004
5
Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. 56 6
15621877 2004
6
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 6 56
15223798 2004
7
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 6 56
14595441 2003
8
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. 56 6
10922204 2000
9
Congenital fibrosis of the extraocular muscles. 56 61
18214786 2008
10
Congenital Fibrosis of the Extraocular Muscles 6 61
20301522 2004
11
Generalized fibrosis of the extraocular muscles. 56 61
677209 1978
12
Congenital general fibrosis of the extraocular muscles. 56 61
5755737 1968
13
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. 56
17551929 2007
14
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. 56
15671279 2005
15
Elevation of one eye during tooth brushing. 56
12208268 2002
16
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. 56
12073023 2002
17
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 56
11882252 2002
18
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM). 56
9863593 1998
19
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. 56
9797671 1998
20
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. 56
9066352 1997
21
Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. 56
7485159 1995
22
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. 56
8075644 1994
23
Congenital fibrosis of the extraocular muscles; a report of six cases. 56
13302348 1956
24
Effects of Fuzheng Huayu recipe on entecavir pharmacokinetics in normal and dimethylnitrosamine-induced hepatic fibrosis rats. 61
31847670 2020
25
miR-26a attenuates cardiac apoptosis and fibrosis by targeting ataxia-telangiectasia mutated in myocardial infarction. 61
31990056 2020
26
Follistatin-like 1: A dual regulator that promotes cardiomyocyte proliferation and fibrosis. 61
32017077 2020
27
Mitochondrial dysfunction drives persistent vascular fibrosis in rats after short-term exposure of PM2.5. 61
32438194 2020
28
Excessive fibrosis and non-function after ATOMS (adjustable transobturator male system): A case of capsular contracture? 61
32426236 2020
29
CircRNA circHIPK3: A novel therapeutic target for angiotensin II-induced cardiac fibrosis. 61
32197828 2020
30
TCDD promotes liver fibrosis through disordering systemic and hepatic iron homeostasis. 61
32325343 2020
31
Inhibition of histone demethylase JMJD1C attenuates cardiac hypertrophy and fibrosis induced by angiotensin II. 61
32122211 2020
32
Oral prevalence and antifungal susceptibility of Candida species in cystic fibrosis patients. 61
32474212 2020
33
MiR-542-3p drives renal fibrosis by targeting AGO1 in vivo and in vitro. 61
32470449 2020
34
CREBH knockout accelerates hepatic fibrosis in mouse models of diet-induced nonalcoholic fatty liver disease. 61
32417373 2020
35
Targeting JMJD3 histone demethylase mediates cardiac fibrosis and cardiac function following myocardial infarction. 61
32513540 2020
36
FoxM1 inhibition ameliorates renal interstitial fibrosis by decreasing extracellular matrix and epithelial-mesenchymal transition. 61
32513569 2020
37
The Impact of Bariatric Surgery on Hepatic Function and Predictors of Liver Steatosis and Fibrosis. 61
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38
Salvianolic acid B attenuates epithelial-mesenchymal transition in renal fibrosis rats through activating Sirt1-mediated autophagy. 61
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39
Proteomic profiling of hepatic stellate cells in alcohol liver fibrosis reveals proteins involved in collagen production. 61
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Mechano-therapeutics: Targeting Mechanical Signaling in Fibrosis and Tumor Stroma. 61
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41
Sex related differences in the pathogenesis of organ fibrosis. 61
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42
A broad-spectrum antibacterial natural product from the cystic fibrosis isolate, Pantoea agglomerans Tx10. 61
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Regulatory T cells are a double-edged sword in pulmonary fibrosis. 61
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Non-invasive diagnosis of patients with 'at-risk' NAFLD : only fibrosis counts? 61
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Protective effects of Amygdalus mongolica on rats with renal fibrosis based on serum metabolomics. 61
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Treatment outcomes of laser therapy in oral submucous fibrosis-a systematic review. 61
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Mangiferin activates Nrf2 to attenuate cardiac fibrosis via redistributing glutaminolysis-derived glutamate. 61
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Novel use for old drugs: The emerging role of artemisinin and its derivatives in fibrosis. 61
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Performance of Noninvasive Liver Fibrosis Scores in the Morbid Obese Patient, Same Scores but Different Thresholds. 61
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Injured tubular epithelial cells activate fibroblasts to promote kidney fibrosis through miR-150-containing exosomes. 61
32315664 2020

Variations for Fibrosis of Extraocular Muscles, Congenital, 1

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

6 (show top 50) (show all 126) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF21A NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)SNV Pathogenic 2436 rs121912585 12:39726207-39726207 12:39332405-39332405
2 KIF21A NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)SNV Pathogenic 2437 rs121912586 12:39726206-39726206 12:39332404-39332404
3 KIF21A NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)SNV Pathogenic 2438 rs121912587 12:39726038-39726038 12:39332236-39332236
4 KIF21A NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)SNV Pathogenic 2439 rs121912588 12:39752128-39752128 12:39358326-39358326
5 KIF21A NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)SNV Pathogenic 2440 rs121912589 12:39726410-39726410 12:39332608-39332608
6 KIF21A NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)SNV Pathogenic 2441 rs121912590 12:39726409-39726409 12:39332607-39332607
7 KIF21A NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile)SNV Pathogenic 2442 rs267607200 12:39726408-39726408 12:39332606-39332606
8 KIF21A NM_001173464.2(KIF21A):c.84C>G (p.Cys28Trp)SNV Pathogenic 219258 rs864321718 12:39764024-39764024 12:39370222-39370222
9 KIF21A NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp)SNV Uncertain significance 881506 12:39726894-39726894 12:39333092-39333092
10 KIF21A NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg)SNV Uncertain significance 881507 12:39726905-39726905 12:39333103-39333103
11 KIF21A NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=)SNV Uncertain significance 882671 12:39735329-39735329 12:39341527-39341527
12 KIF21A NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val)SNV Uncertain significance 883448 12:39751176-39751176 12:39357374-39357374
13 KIF21A NM_001173464.2(KIF21A):c.681T>C (p.His227=)SNV Uncertain significance 881093 12:39760886-39760886 12:39367084-39367084
14 KIF21A NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs)duplication Uncertain significance 632188 rs1565724702 12:39711895-39711896 12:39318093-39318094
15 KIF21A NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs)insertion Uncertain significance 632189 rs1565724893 12:39711905-39711906 12:39318103-39318104
16 KIF21A NM_001173464.2(KIF21A):c.2418+2T>CSNV Uncertain significance 632190 rs1565839016 12:39730896-39730896 12:39337094-39337094
17 KIF21A NM_001173464.2(KIF21A):c.*582G>ASNV Uncertain significance 883358 12:39687644-39687644 12:39293842-39293842
18 KIF21A NM_001173464.2(KIF21A):c.*531T>CSNV Uncertain significance 883359 12:39687695-39687695 12:39293893-39293893
19 KIF21A NM_001173464.2(KIF21A):c.*366C>TSNV Uncertain significance 880992 12:39687860-39687860 12:39294058-39294058
20 KIF21A NM_001173464.2(KIF21A):c.*65G>ASNV Uncertain significance 880994 12:39688161-39688161 12:39294359-39294359
21 KIF21A NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu)SNV Uncertain significance 882353 12:39695399-39695399 12:39301597-39301597
22 KIF21A NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln)SNV Uncertain significance 882624 12:39703397-39703397 12:39309595-39309595
23 KIF21A NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=)SNV Uncertain significance 882626 12:39709766-39709766 12:39315964-39315964
24 KIF21A NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu)SNV Uncertain significance 883401 12:39716587-39716587 12:39322785-39322785
25 KIF21A NM_001173464.2(KIF21A):c.3082G>A (p.Val1028Ile)SNV Uncertain significance 881049 12:39725563-39725563 12:39331761-39331761
26 KIF21A NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr)SNV Uncertain significance 881558 12:39763911-39763911 12:39370109-39370109
27 KIF21A NM_001173464.2(KIF21A):c.44+15C>GSNV Uncertain significance 881559 12:39836714-39836714 12:39442912-39442912
28 KIF21A NM_001173464.2(KIF21A):c.44+5G>ASNV Uncertain significance 881560 12:39836724-39836724 12:39442922-39442922
29 KIF21A NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys)SNV Uncertain significance 308566 rs749644826 12:39726467-39726467 12:39332665-39332665
30 KIF21A NM_001173464.2(KIF21A):c.-147C>ASNV Uncertain significance 308597 rs886049348 12:39836919-39836919 12:39443117-39443117
31 KIF21A NM_017641.3(KIF21A):c.-203C>GSNV Uncertain significance 308600 rs886049349 12:39836975-39836975 12:39443173-39443173
32 KIF21A NM_017641.3(KIF21A):c.-245C>TSNV Uncertain significance 308602 rs886049350 12:39837017-39837017 12:39443215-39443215
33 KIF21A NM_017641.3(KIF21A):c.-335C>GSNV Uncertain significance 308604 rs886049351 12:39837107-39837107 12:39443305-39443305
34 KIF21A NM_017641.3(KIF21A):c.-339C>ASNV Uncertain significance 308605 rs886049352 12:39837111-39837111 12:39443309-39443309
35 KIF21A NM_017641.3(KIF21A):c.-345G>ASNV Uncertain significance 308606 rs886049353 12:39837117-39837117 12:39443315-39443315
36 KIF21A NM_001173464.2(KIF21A):c.*1010T>CSNV Uncertain significance 308528 rs886049332 12:39687216-39687216 12:39293414-39293414
37 KIF21A NM_001173464.2(KIF21A):c.4471C>T (p.His1491Tyr)SNV Uncertain significance 308551 rs748150530 12:39698712-39698712 12:39304910-39304910
38 KIF21A NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr)SNV Uncertain significance 308567 rs886049344 12:39726505-39726505 12:39332703-39332703
39 KIF21A NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr)SNV Uncertain significance 308583 rs886049345 12:39751134-39751134 12:39357332-39357332
40 KIF21A NM_001173464.2(KIF21A):c.825C>T (p.Leu275=)SNV Uncertain significance 308588 rs143876096 12:39760230-39760230 12:39366428-39366428
41 KIF21A NM_001173464.2(KIF21A):c.*1157A>TSNV Uncertain significance 308526 rs886049330 12:39687069-39687069 12:39293267-39293267
42 KIF21A NM_001173464.2(KIF21A):c.*1022A>TSNV Uncertain significance 308527 rs886049331 12:39687204-39687204 12:39293402-39293402
43 KIF21A NM_001173464.2(KIF21A):c.*690T>CSNV Uncertain significance 308535 rs886049336 12:39687536-39687536 12:39293734-39293734
44 KIF21A NM_001173464.2(KIF21A):c.*326T>ASNV Uncertain significance 308541 rs886049337 12:39687900-39687900 12:39294098-39294098
45 KIF21A NM_001173464.2(KIF21A):c.*211C>GSNV Uncertain significance 308543 rs886049338 12:39688015-39688015 12:39294213-39294213
46 KIF21A NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu)SNV Uncertain significance 308544 rs373406994 12:39688290-39688290 12:39294488-39294488
47 KIF21A NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu)SNV Uncertain significance 308550 rs886049340 12:39698655-39698655 12:39304853-39304853
48 KIF21A NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn)SNV Uncertain significance 308556 rs886049342 12:39711911-39711911 12:39318109-39318109
49 KIF21A NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=)SNV Uncertain significance 308569 rs148166854 12:39726862-39726862 12:39333060-39333060
50 KIF21A NM_001173464.2(KIF21A):c.*935A>GSNV Uncertain significance 308529 rs886049333 12:39687291-39687291 12:39293489-39293489

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

GO Terms for Fibrosis of Extraocular Muscles, Congenital, 1

Sources for Fibrosis of Extraocular Muscles, Congenital, 1

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