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CFEOM1
MCID: FBR046
MIFTS: 57

Fibrosis of Extraocular Muscles, Congenital, 1 (CFEOM1)

Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Fibrosis of Extraocular Muscles, Congenital, 1

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

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

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

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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 Azithromycin and Clarithromycin have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and kidney, and related phenotypes are bilateral ptosis and esotropia

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...

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Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 1

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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 2435)
# 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 nephrogenic systemic fibrosis 12.5
10 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 12.5
11 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 12.5
12 hepatic fibrosis, severe due to schistosoma mansoni infection 12.5
13 combined pulmonary fibrosis-emphysema syndrome 12.5
14 fibrosis, neurodegeneration, and cerebral angiomatosis 12.5
15 diffuse pulmonary fibrosis 12.4
16 cystic fibrosis, modifier of, 1 12.4
17 endomyocardial fibrosis 12.4
18 localized pulmonary fibrosis 12.4
19 renal fibrosis 12.4
20 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 12.4
21 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 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 12.2
27 cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and mental retardation 12.2
28 coach syndrome 12.2
29 preretinal fibrosis 12.2
30 hermansky-pudlak syndrome with pulmonary fibrosis 12.2
31 idiopathic interstitial pneumonia 12.2
32 immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis 12.2
33 cystic fibrosis and congenital absence of the vas deferens 12.2
34 pulmonary fibrosis, familial 12.2
35 tropical endomyocardial fibrosis 12.2
36 airway-centered interstitial fibrosis 12.2
37 isolated congenital hepatic fibrosis 12.2
38 hermansky-pudlak syndrome without pulmonary fibrosis 12.1
39 muscular fibrosis multifocal obstructed vessels 12.0
40 obsolete: follicular hamartoma-alopecia-cystic fibrosis syndrome 12.0
41 pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome 12.0
42 obsolete: multifocal muscular fibrosis-obstructed vessels syndrome 12.0
43 bronchiectasis with or without elevated sweat chloride 1 12.0
44 myelofibrosis 11.9
45 igg4-related disease 11.9
46 bronchiectasis with or without elevated sweat chloride 2 11.9
47 bronchiectasis with or without elevated sweat chloride 3 11.9
48 congenital disorder of glycosylation, type ib 11.9
49 acute interstitial pneumonia 11.9
50 tukel syndrome 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
Sources

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 bilateral ptosis 31 HP:0001488
2 esotropia 31 HP:0000565
3 exotropia 31 HP:0000577
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
Sources

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

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

(show top 50) (show all 1028)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 4 83905-01-5 55185 447043
2
Clarithromycin Approved Phase 4 81103-11-9 84029
3
Prazosin Approved Phase 4 19216-56-9 4893
4
Simvastatin Approved Phase 4 79902-63-9 54454
5
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
6
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
7
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
8
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
9
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
10
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
11
Fenofibrate Approved Phase 4 49562-28-9 3339
12
Procaine Approved, Investigational, Vet_approved Phase 4 59-46-1 4914
13
Hydralazine Approved Phase 4 86-54-4 3637
14
Insulin glulisine Approved Phase 4 207748-29-6
15
Magnesium oxide Approved Phase 4 1309-48-4 14792
16
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
17
Ticagrelor Approved Phase 4 274693-27-5 9871419
18
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
19
Imipenem Approved Phase 4 64221-86-9, 74431-23-5 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 215647-85-1, 99210-65-8
23
Mycophenolic acid Approved Phase 4 24280-93-1 446541
24
Altretamine Approved Phase 4 645-05-6 2123
25
Enalaprilat Approved Phase 4 76420-72-9 6917719
26
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
27
Avibactam Approved Phase 4 1192500-31-4
28
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
29
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
30
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
31
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
32 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
33
Bevacizumab Approved, Investigational Phase 4 216974-75-3
34
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
35
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
36
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
37
Praziquantel Approved, Investigational, Vet_approved Phase 4 55268-74-1 4891
38
Fosfomycin Approved Phase 4 23155-02-4 446987
39
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
40
Telavancin Approved Phase 4 372151-71-8
41
Tedizolid phosphate Approved Phase 4 856867-55-5
42
Tedizolid Approved, Investigational Phase 4 856866-72-3
43
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
44
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
45
Insulin detemir Approved Phase 4 169148-63-4 5311023
46
Insulin aspart Approved Phase 4 116094-23-6 16132418
47
Povidone-iodine Approved Phase 4 25655-41-8
48
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
49
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
50
Ranibizumab Approved Phase 4 347396-82-1 459903

Interventional clinical trials:

(show top 50) (show all 4894)
# 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 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
7 Use of Roflumilast to Prevent Exacerbations in Fibrotic Sarcoidosis Patients (REFS) Unknown status NCT01830959 Phase 4 Roflumilast;Placebo
8 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 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 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
12 A Randomized Prospective Trial of N-acetyl Cystein in Patients With Peritoneal Dialysis Unknown status NCT01111422 Phase 4 N-acetylcysteine
13 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
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 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
16 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
17 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
18 The Effects of Spironolactone on Calcineurin Inhibitor Induced Nephrotoxicity Unknown status NCT01602861 Phase 4 Spironolactone;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 Impact of a Mineralocorticoid Receptor Antagonist on Chronic Histological Changes in Renal Allograft Unknown status NCT01510795 Phase 4 spironolactone
21 Effect of Ursodeoxycholic Acid on Peritoneal Function in Patients on Peritoneal Dialysis Unknown status NCT02338635 Phase 4 Ursodeoxycholic Acid
22 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
23 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
24 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
25 A Randomised Trial Comparing Entacavir and Tenofovir in Patients With HBV Decompensated Cirrhosis Unknown status NCT02238860 Phase 4 Entacavir;Tenofovir
26 A Randomized Comparison of Rifaximin Versus Lactulose in Hospitalized Cirrhotic Patients With Progressive Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
27 Emtricitabine Plus Adefovir Dipivoxil for Naive Chinese HBV Related Cirrhosis Patients Unknown status NCT02327689 Phase 4 Emtricitabine plus adefovir dipivoxil
28 Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy Unknown status NCT02401490 Phase 4 Human albumin;Placebo
29 Effect of Vardenafil on Erectile Dysfunction and Portal Hemodynamics in Patients With Liver Cirrhosis Unknown status NCT02344823 Phase 4 Vardenafil;Placebo intake once daily
30 Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis Unknown status NCT02470546 Phase 4 Metformin;Placebo
31 Clinical Study of Telbivudine on Liver Cirrhosis in Patients With Chronic Hepatitis B Unknown status NCT01380951 Phase 4 telbivudine
32 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
33 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
34 Aerosolized Antibiotics in the Treatment of Ventilator Associated Pneumonia: A Pilot Study Unknown status NCT02478710 Phase 4 Aerosolized Tobramycin or Vancomycin;Aerosolized Placebo
35 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
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 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
38 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
39 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
40 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
41 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
42 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
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 Effect of Betablocker or Aldosterone Antagonist Therapy on Oxygenation, Peripheral and Cardiac Hemodynamics and Humoral Systems Unknown status NCT00332904 Phase 4 propranolol;spironolactone
45 Entecavir for Patients With Decompensated HBV-Related Cirrhosis:a Prospective Randomized Controlled Trial Unknown status NCT00663182 Phase 4 Entecavir
46 Telbivudine Renoprotective Effect in Patients With the HBV-related Liver Cirrhosis: a Randomized Controlled Trial Unknown status NCT01799486 Phase 4 Telbivudine;Enecavir;Adefovir
47 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4 Lovaza;placebo control
48 Randomized Controlled Trial of Pirfenidone in Patients With Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
49 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
50 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

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

Sources

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 1

About this section

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
Sources

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

About this section

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

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

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

About this section

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. 56 6
19551685 2009
2
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. 56 6
18332320 2008
3
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. 56 6
15827546 2005
4
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. 56 6
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). 56 6
15223798 2004
7
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 56 6
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. 61 56
18214786 2008
10
Congenital Fibrosis of the Extraocular Muscles 61 6
20301522 2004
11
Generalized fibrosis of the extraocular muscles. 61 56
677209 1978
12
Congenital general fibrosis of the extraocular muscles. 61 56
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
Imaging diamagnetic susceptibility of collagen in hepatic fibrosis using susceptibility tensor imaging. 61
31633237 2020
26
Short-term PM2.5 exposure induces sustained pulmonary fibrosis development during post-exposure period in rats. 61
31761645 2020
27
Autophagy inhibition via Becn1 downregulation improves the mesenchymal stem cells antifibrotic potential in experimental liver fibrosis. 61
31508820 2020
28
Astragaloside IV inhibits cardiac fibrosis via miR-135a-TRPM7-TGF-β/Smads pathway. 61
31739105 2020
29
Autophagic-CTSB-inflammasome axis modulates hepatic stellate cells activation in arsenic-induced liver fibrosis. 61
31669990 2020
30
Update on Canine Idiopathic Pulmonary Fibrosis in West Highland White Terriers. 61
31866093 2020
31
Loss of ELK1 has differential effects on age-dependent organ fibrosis. 61
31877385 2020
32
The IL-4/IL-13 axis in skin fibrosis and scarring: mechanistic concepts and therapeutic targets. 61
31493000 2020
33
Arsenic trioxide and curcumin attenuate cisplatin-induced renal fibrosis in rats through targeting Hedgehog signaling. 61
31612257 2020
34
CAPN2 acts as an indicator of hepatitis B virus to induce hepatic fibrosis. 61
31680308 2020
35
A Case Report of a Right Mesocolon Solitary Fibrosis Tumour. 61
31407250 2020
36
Autophagy, an important therapeutic target for pulmonary fibrosis diseases. 61
31877297 2020
37
Zinc Deficiency Induces Oxidative Damage and Causes Spleen Fibrosis. 61
31172426 2020
38
Immune mechanisms of fibrosis and inflammation in IgG4-related disease. 61
31842033 2020
39
Hedgehog signaling pathway regulates hexavalent chromium-induced liver fibrosis by activation of hepatic stellate cells. 61
31756458 2020
40
O-GlcNAcylation of RAF1 increases its stabilization and induces the renal fibrosis. 61
31521821 2020
41
Levels of pro- and anti-inflammatory cytokines in cystic fibrosis patients with or without gingivitis. 61
31927460 2020
42
Interleukin-17A induces renal fibrosis through the ERK and Smad signaling pathways. 61
31901549 2020
43
Patients with suboptimal hepatitis B virus diagnostic characterization are at risk of liver fibrosis progression. 61
31490418 2020
44
Dissociation between hypertrophy and fibrosis in the left ventricle early after experimental kidney transplantation. 61
31652182 2020
45
Mediastinal Fibrosis, Pulmonary Vein Stenosis, and the Role of Transesophageal Echocardiography. 61
31806471 2020
46
Comparative Effectiveness of Vancomycin Versus Linezolid for the Treatment of Acute Pulmonary Exacerbations of Cystic Fibrosis. 61
31658825 2020
47
Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea. 61
31976143 2020
48
Dahuang Zhechong pill attenuates CCl4-induced rat liver fibrosis via the PI3K-Akt signaling pathway. 61
31502329 2020
49
Rapamycin attenuates the paraquat-induced pulmonary fibrosis through activating Nrf2 pathway. 61
31301076 2020
50
Somatic growth in cystic fibrosis. 61
31815786 2020
Sources

Variations for Fibrosis of Extraocular Muscles, Congenital, 1

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

6 (show top 50) (show all 95) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF21A NM_001173464.2(KIF21A):c.84C>G (p.Cys28Trp)SNV Pathogenic 219258 rs864321718 12:39764024-39764024 12:39370222-39370222
2 KIF21A NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)SNV Pathogenic 2436 rs121912585 12:39726207-39726207 12:39332405-39332405
3 KIF21A NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln)SNV Pathogenic 2437 rs121912586 12:39726206-39726206 12:39332404-39332404
4 KIF21A NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr)SNV Pathogenic 2438 rs121912587 12:39726038-39726038 12:39332236-39332236
5 KIF21A NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr)SNV Pathogenic 2439 rs121912588 12:39752128-39752128 12:39358326-39358326
6 KIF21A NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)SNV Pathogenic 2440 rs121912589 12:39726410-39726410 12:39332608-39332608
7 KIF21A NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg)SNV Pathogenic 2441 rs121912590 12:39726409-39726409 12:39332607-39332607
8 KIF21A NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile)SNV Pathogenic 2442 rs267607200 12:39726408-39726408 12:39332606-39332606
9 KIF21A NM_001173464.2(KIF21A):c.1542G>A (p.Ala514=)SNV Conflicting interpretations of pathogenicity 308580 rs199973182 12:39745710-39745710 12:39351908-39351908
10 KIF21A NM_001173464.2(KIF21A):c.1160A>G (p.Asn387Ser)SNV Conflicting interpretations of pathogenicity 308585 rs745692702 12:39752035-39752035 12:39358233-39358233
11 KIF21A NM_001173464.2(KIF21A):c.3320-4A>TSNV Conflicting interpretations of pathogenicity 308561 rs371915160 12:39724068-39724068 12:39330266-39330266
12 KIF21A NM_001173464.2(KIF21A):c.2535T>A (p.Ala845=)SNV Uncertain significance 308569 rs148166854 12:39726862-39726862 12:39333060-39333060
13 KIF21A NM_001173464.2(KIF21A):c.2492C>T (p.Thr831Met)SNV Uncertain significance 308570 rs764601859 12:39726905-39726905 12:39333103-39333103
14 KIF21A NM_001173464.2(KIF21A):c.*211C>GSNV Uncertain significance 308543 rs886049338 12:39688015-39688015 12:39294213-39294213
15 KIF21A NM_001173464.2(KIF21A):c.4961G>T (p.Arg1654Leu)SNV Uncertain significance 308544 rs373406994 12:39688290-39688290 12:39294488-39294488
16 KIF21A NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu)SNV Uncertain significance 308550 rs886049340 12:39698655-39698655 12:39304853-39304853
17 KIF21A NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn)SNV Uncertain significance 308556 rs886049342 12:39711911-39711911 12:39318109-39318109
18 KIF21A NM_001173464.2(KIF21A):c.1321G>A (p.Ala441Thr)SNV Uncertain significance 308583 rs886049345 12:39751134-39751134 12:39357332-39357332
19 KIF21A NM_001173464.2(KIF21A):c.825C>T (p.Leu275=)SNV Uncertain significance 308588 rs143876096 12:39760230-39760230 12:39366428-39366428
20 KIF21A NM_001173464.2(KIF21A):c.*1157A>TSNV Uncertain significance 308526 rs886049330 12:39687069-39687069 12:39293267-39293267
21 KIF21A NM_001173464.2(KIF21A):c.*1022A>TSNV Uncertain significance 308527 rs886049331 12:39687204-39687204 12:39293402-39293402
22 KIF21A NM_001173464.2(KIF21A):c.*690T>CSNV Uncertain significance 308535 rs886049336 12:39687536-39687536 12:39293734-39293734
23 KIF21A NM_001173464.2(KIF21A):c.*326T>ASNV Uncertain significance 308541 rs886049337 12:39687900-39687900 12:39294098-39294098
24 KIF21A NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr)SNV Uncertain significance 308567 rs886049344 12:39726505-39726505 12:39332703-39332703
25 KIF21A NM_001173464.2(KIF21A):c.578G>A (p.Arg193His)SNV Uncertain significance 308590 rs770064077 12:39761707-39761707 12:39367905-39367905
26 KIF21A NM_001173464.2(KIF21A):c.*935A>GSNV Uncertain significance 308529 rs886049333 12:39687291-39687291 12:39293489-39293489
27 KIF21A NM_001173464.2(KIF21A):c.*845dupduplication Uncertain significance 308530 rs886049334 12:39687380-39687381 12:39293578-39293579
28 KIF21A NM_001173464.2(KIF21A):c.*690dupduplication Uncertain significance 308533 rs34373131 12:39687535-39687536 12:39293733-39293734
29 KIF21A NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr)SNV Uncertain significance 308545 rs886049339 12:39695322-39695322 12:39301520-39301520
30 KIF21A NM_001173464.2(KIF21A):c.3959G>A (p.Arg1320Lys)SNV Uncertain significance 308555 rs142879430 12:39709031-39709031 12:39315229-39315229
31 KIF21A NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn)SNV Uncertain significance 308565 rs886049343 12:39726451-39726451 12:39332649-39332649
32 KIF21A NM_001173464.2(KIF21A):c.2431C>T (p.Leu811Phe)SNV Uncertain significance 308572 rs779688115 12:39727070-39727070 12:39333268-39333268
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.2305A>G (p.Thr769Ala)SNV Uncertain significance 308574 rs200645253 12:39733972-39733972 12:39340170-39340170
39 KIF21A NM_001173464.2(KIF21A):c.2782C>T (p.Arg928Cys)SNV Uncertain significance 308566 rs749644826 12:39726467-39726467 12:39332665-39332665
40 KIF21A NM_001173464.2(KIF21A):c.-147C>ASNV Uncertain significance 308597 rs886049348 12:39836919-39836919 12:39443117-39443117
41 KIF21A NM_017641.3(KIF21A):c.-203C>GSNV Uncertain significance 308600 rs886049349 12:39836975-39836975 12:39443173-39443173
42 KIF21A NM_017641.3(KIF21A):c.-245C>TSNV Uncertain significance 308602 rs886049350 12:39837017-39837017 12:39443215-39443215
43 KIF21A NM_001173464.2(KIF21A):c.4277C>T (p.Thr1426Met)SNV Uncertain significance 308552 rs781214904 12:39703388-39703388 12:39309586-39309586
44 KIF21A NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val)SNV Uncertain significance 308553 rs886049341 12:39703401-39703401 12:39309599-39309599
45 KIF21A NM_001173464.2(KIF21A):c.608A>G (p.Gln203Arg)SNV Uncertain significance 308589 rs149328427 12:39760959-39760959 12:39367157-39367157
46 KIF21A NM_001173464.2(KIF21A):c.268-14G>TSNV Uncertain significance 308591 rs762377796 12:39763727-39763727 12:39369925-39369925
47 KIF21A NM_001173464.2(KIF21A):c.162A>G (p.Val54=)SNV Uncertain significance 308592 rs754537818 12:39763946-39763946 12:39370144-39370144
48 KIF21A NM_001173464.2(KIF21A):c.-41G>ASNV Uncertain significance 308595 rs886049346 12:39836813-39836813 12:39443011-39443011
49 KIF21A NM_001173464.2(KIF21A):c.-146G>ASNV Uncertain significance 308596 rs886049347 12:39836918-39836918 12:39443116-39443116
50 KIF21A NM_017641.3(KIF21A):c.-392G>CSNV Uncertain significance 308607 rs886049354 12:39837164-39837164 12:39443362-39443362

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

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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

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GO Terms for Fibrosis of Extraocular Muscles, Congenital, 1

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Sources for Fibrosis of Extraocular Muscles, Congenital, 1

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3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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