CFEOM1
MCID: FBR046
MIFTS: 58

Fibrosis of Extraocular Muscles, Congenital, 1 (CFEOM1)

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases

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

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

Name: Fibrosis of Extraocular Muscles, Congenital, 1 57 72 29 13 6 70
Fibrosis of Extraocular Muscles, Congenital, 3b 57 72 29 6 70
Fibrosis 44 17 70
Blepharoptosis with Absent Eye Movements 57 72
Congenital Ophthalmoplegia 72 6
Cfeom1 57 72
Fibrosis, Extraocular Muscles, Congenital, Type 1 39
Congenital Fibrosis of the Extraocular Muscles 70
Ophthalmoplegia, Congenital 57
Feom1 Locus 57
Cfeom3b 72
Feom1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 135700
OMIM Phenotypic Series 57 PS135700
UMLS 70 C0016059 C1302995 C1851102 more

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

UniProtKB/Swiss-Prot : 72 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 tukel syndrome and paralytic squint, 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 Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and kidney, and related phenotypes are esotropia and exotropia

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 05-Apr-2021)

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 2494)
# Related Disease Score Top Affiliating Genes
1 tukel syndrome 31.1 TUBA1A KIF21A
2 paralytic squint 28.9 TUBA1A KIF21A
3 ocular motility disease 28.6 TUBA1A KIF21A
4 cystic fibrosis 12.0
5 pulmonary fibrosis, idiopathic 11.9
6 pulmonary fibrosis 11.8
7 oral submucous fibrosis 11.6
8 retroperitoneal fibrosis 11.6
9 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.6
10 congenital hepatic fibrosis 11.6
11 coach syndrome 1 11.5
12 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 11.5
13 nephrogenic systemic fibrosis 11.5
14 renal fibrosis 11.4
15 endomyocardial fibrosis 11.4
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 11.4
17 pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 11.4
18 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 11.4
19 hepatic fibrosis, severe due to schistosoma mansoni infection 11.3
20 fibrosclerosis, multifocal 11.3
21 myelofibrosis 11.3
22 systemic scleroderma 11.3
23 fibrosis, neurodegeneration, and cerebral angiomatosis 11.3
24 diffuse pulmonary fibrosis 11.3
25 fibrosis of extraocular muscles, congenital, 5 11.3
26 idiopathic interstitial pneumonia 11.3
27 non-alcoholic fatty liver disease 11.3
28 fatty liver disease 11.3
29 bronchiectasis with or without elevated sweat chloride 1 11.3
30 igg4-related disease 11.3
31 lung disease 11.2
32 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 11.2
33 fibrosing mediastinitis 11.2
34 combined pulmonary fibrosis-emphysema syndrome 11.2
35 cystic fibrosis, modifier of, 1 11.2
36 vas deferens, congenital bilateral aplasia of 11.2
37 acute interstitial pneumonia 11.2
38 bronchiectasis with or without elevated sweat chloride 2 11.2
39 bronchiectasis with or without elevated sweat chloride 3 11.2
40 congenital disorder of glycosylation, type ib 11.2
41 localized pulmonary fibrosis 11.2
42 scleroderma, familial progressive 11.2
43 liver cirrhosis 11.2
44 eaf 11.2
45 interstitial lung disease 11.2
46 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye 11.1
47 bronchiectasis 11.1
48 hermansky-pudlak syndrome 11.1
49 postinflammatory pulmonary fibrosis 11.1
50 diabetes mellitus, neonatal, with congenital hypothyroidism 11.1

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®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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


seizures; muscle weakness; polydipsia; fever; ophthalmoplegia; dyspnea; vertigo; cachexia; headache; syncope; cyanosis; edema; 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 823)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 4 83905-01-5 447043 55185
2
Simvastatin Approved Phase 4 79902-63-9 54454
3
Ticarcillin Approved, Investigational, Vet_approved Phase 4 34787-01-4 36921
4
Cefepime Approved, Investigational Phase 4 88040-23-7 5479537
5
Ticagrelor Approved Phase 4 274693-27-5 9871419
6
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
7
Prazosin Approved Phase 4 19216-56-9 4893
8
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
9
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
10
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
11
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
12
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
13
Imipenem Approved Phase 4 64221-86-9, 74431-23-5 104838
14
Magnesium oxide Approved Phase 4 1309-48-4 14792
15
Insulin glulisine Approved Phase 4 207748-29-6
16
Esomeprazole Approved, Investigational Phase 4 161973-10-0, 161796-78-7, 119141-88-7 4594 9568614
17
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
18
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
19
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616
20
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
21
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
22
Losartan Approved Phase 4 114798-26-4 3961
23
Octreotide Approved, Investigational Phase 4 83150-76-9 6400441 383414
24
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
25
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
26
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
27
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
28
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
29
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
30
Ceftolozane Approved, Investigational Phase 4 689293-68-3
31
Adenosine Approved, Investigational Phase 4 58-61-7 60961
32
Regadenoson Approved, Investigational Phase 4 313348-27-5 219024
33
Zinc Approved, Investigational Phase 4 7440-66-6 32051
34
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
35
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
36
Insulin lispro Approved Phase 4 133107-64-9
37
Tamoxifen Approved Phase 4 10540-29-1 2733526
38
Insulin glargine Approved Phase 4 160337-95-1
39
Amikacin Approved, Investigational, Vet_approved Phase 4 37517-28-5 37768
40
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
41
Avibactam Approved Phase 4 1192500-31-4
42
Telavancin Approved Phase 4 372151-71-8
43
Lactitol Approved, Investigational Phase 4 585-86-4 157355
44
Fosfomycin Approved Phase 4 23155-02-4 446987
45
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
46
Tedizolid Approved, Investigational Phase 4 856866-72-3
47
Tedizolid phosphate Approved Phase 4 856867-55-5
48
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
49
Adefovir dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
50
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139

Interventional clinical trials:

(show top 50) (show all 3244)
# 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 A Pilot Trial of Intravenous Iron for the Treatment of Iron Deficiency in Adult Patients With Cystic Fibrosis Unknown status NCT03632525 Phase 4 Ferric carboxymaltose
3 Effect of Azithromycin on Lipoproteins and Docosahexaenoic Acid in Patients With Cystic Fibrosis Unknown status NCT03045198 Phase 4 Azithromycin
4 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
5 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4 Sildenafil
6 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
7 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
8 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
9 Development of an Imaging Biomarker for Hepatic Fibrosis Using Gadoxetate Disodium Unknown status NCT01783314 Phase 4
10 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
11 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
12 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
13 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
14 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
15 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
16 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
17 Ramipril Treatment of Claudication: Oxidative Damage and Muscle Fibrosis Unknown status NCT02842424 Phase 4 Ramipril
18 Effects of SGLT-2 Inhibition With Dapagliflozin on Myocardial Fibrosis and Inflammation as Assessed by Cardiac MRI With T1- and T2-mapping in Patients With Type-2 Diabetes Unknown status NCT03782259 Phase 4 dapagliflozin
19 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
20 Improved Exercise Tolerance in Participants With PReserved Ejection Fraction by Spironolactone on Myocardial Fibrosis in Atrial Fibrillation Unknown status NCT02673463 Phase 4 Spironolactone;Placebo
21 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
22 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.
23 Metformin Experience on Minimal Hepatic Encephalopathy in Patients With Liver Cirrhosis Unknown status NCT02470546 Phase 4 Metformin;Placebo
24 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
25 Efficacy and Safety of Warfarin Anticoagulation for Prevention of Portal Vein Thrombosis in Liver Cirrhotic Patients With Hypersplenism After Laparoscopic Splenectomy Unknown status NCT02238444 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
26 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)
27 Magnesium Deficiency in Cirrhotic Patients Unknown status NCT01894867 Phase 4
28 Effect of Vardenafil on Erectile Dysfunction and Portal Hemodynamics in Patients With Liver Cirrhosis Unknown status NCT02344823 Phase 4 Vardenafil;Placebo intake once daily
29 Emtricitabine Plus Adefovir Dipivoxil for Naive Chinese HBV Related Cirrhosis Patients Unknown status NCT02327689 Phase 4 Emtricitabine plus adefovir dipivoxil
30 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
31 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
32 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
33 Effect of Betablocker or Aldosterone Antagonist Therapy on Oxygenation, Peripheral and Cardiac Hemodynamics and Humoral Systems Unknown status NCT00332904 Phase 4 propranolol;spironolactone
34 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
35 Randomized and Controlled Clinical Trial of Transfusional Requirements in Patients With Acute Gastrointestinal Bleeding. Unknown status NCT00414713 Phase 4
36 Telbivudine Renoprotective Effect in Patients With the HBV-related Liver Cirrhosis: a Randomized Controlled Trial Unknown status NCT01799486 Phase 4 Telbivudine;Enecavir;Adefovir
37 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
38 A Randomised Trial Comparing Entacavir and Tenofovir in Patients With HBV Decompensated Cirrhosis Unknown status NCT02238860 Phase 4 Entacavir;Tenofovir
39 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
40 Rifaximin Predicts the Complications of Decompensated Cirrhosis: a Randomized Controlled Trial Unknown status NCT02074280 Phase 4 rifaximin
41 Albumin Infusion Effects in Mortality in Patients With Cirrhosis and Hepatic Encephalopathy Unknown status NCT02401490 Phase 4 Human albumin;Placebo
42 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
43 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
44 Telbivudine Renoprotective Effect in Patients With HBV-related Liver Cirrhosis Unknown status NCT01693679 Phase 4 Telbivudine, Lamivudine, Adefovir ,Enecavir
45 A Randomized Comparison of Two Albumin Administration Schedules for Spontaneous Bacterial Peritonitis Unknown status NCT00761098 Phase 4 Standard Care;Experimental
46 A Randomized Comparison of Rifaximin Versus Lactulose in Hospitalized Cirrhotic Patients With Progressive Renal Failure Unknown status NCT00748904 Phase 4 Rifaximin;Lactulose
47 Entecavir for Patients With Decompensated HBV-Related Cirrhosis:a Prospective Randomized Controlled Trial Unknown status NCT00663182 Phase 4 Entecavir
48 Clinical Study of Telbivudine on Liver Cirrhosis in Patients With Chronic Hepatitis B Unknown status NCT01380951 Phase 4 telbivudine
49 Rifaximin Reduces the Complications of Decompensated Cirrhosis Unknown status NCT02190357 Phase 4 Rifaximin
50 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

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Bone, Heart, Bone Marrow, Endothelial

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

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

(show top 50) (show all 30022)
# Title Authors PMID Year
1
KIF21A variant R954W in familial or sporadic cases of CFEOM1. 6 57
19551685 2009
2
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. 57 6
18332320 2008
3
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. 57 6
15827546 2005
4
Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. 57 6
15621876 2004
5
Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutations. 6 57
15621877 2004
6
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). 6 57
15223798 2004
7
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). 6 57
14595441 2003
8
A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. 57 6
10922204 2000
9
Congenital fibrosis of the extraocular muscles. 57
18214786 2008
10
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. 57
17551929 2007
11
Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. 57
15671279 2005
12
Elevation of one eye during tooth brushing. 57
12208268 2002
13
Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. 57
12073023 2002
14
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. 57
11882252 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
Ginsenoside Rg2 alleviates myocardial fibrosis by regulating TGF-β1/Smad signalling pathway. 61
33535854 2021
24
Ion therapy of pulmonary fibrosis by inhalation of ionic solution derived from silicate bioceramics. 61
33778199 2021
25
Analysis of structural components of decellularized scaffolds in renal fibrosis. 61
33511316 2021
26
Emerging role of CCN family proteins in fibrosis. 61
33222181 2021
27
Fluorofenidone attenuates paraquat‑induced pulmonary fibrosis by regulating the PI3K/Akt/mTOR signaling pathway and autophagy. 61
33786626 2021
28
Increased CFTR expression and function from an optimized lentiviral vector for cystic fibrosis gene therapy. 61
33768133 2021
29
Interval versus constant-load exercise training in adults with Cystic Fibrosis. 61
33618051 2021
30
Paternal nicotine exposure promotes hepatic fibrosis in offspring. 61
33640489 2021
31
SOD3 deficiency induces liver fibrosis by promoting hepatic stellate cell activation and epithelial-mesenchymal transition. 61
33230845 2021
32
Characterizing modifier genes of cardiac fibrosis phenotype in hypertrophic cardiomyopathy. 61
33529666 2021
33
Tyrosine kinases in the pathogenesis of tissue fibrosis in systemic sclerosis and potential therapeutic role of their inhibition. 61
33422651 2021
34
Targeting mechanosensitive MDM4 promotes lung fibrosis resolution in aged mice. 61
33688918 2021
35
Molecular targets and the use of biologics in the management of small bowel fibrosis in inflammatory bowel disease. 61
33769380 2021
36
A comprehensive review of tanshinone IIA and its derivatives in fibrosis treatment. 61
33761617 2021
37
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Advances in the research of nanodrug delivery system for targeted treatment of liver fibrosis. 61
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Interaction of non‑parenchymal hepatocytes in the process of hepatic fibrosis (Review). 61
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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 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF21A NM_001173464.2(KIF21A):c.2841G>A (p.Met947Ile) SNV Pathogenic 2442 rs267607200 GRCh37: 12:39726408-39726408
GRCh38: 12:39332606-39332606
2 KIF21A NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) SNV Pathogenic 2437 rs121912586 GRCh37: 12:39726206-39726206
GRCh38: 12:39332404-39332404
3 KIF21A NM_001173464.2(KIF21A):c.2861G>A (p.Arg954Gln) SNV Pathogenic 2437 rs121912586 GRCh37: 12:39726206-39726206
GRCh38: 12:39332404-39332404
4 KIF21A NM_001173464.2(KIF21A):c.3029T>C (p.Ile1010Thr) SNV Pathogenic 2438 rs121912587 GRCh37: 12:39726038-39726038
GRCh38: 12:39332236-39332236
5 KIF21A NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) SNV Pathogenic 2440 rs121912589 GRCh37: 12:39726410-39726410
GRCh38: 12:39332608-39332608
6 KIF21A NM_001173464.2(KIF21A):c.2840T>G (p.Met947Arg) SNV Pathogenic 2441 rs121912590 GRCh37: 12:39726409-39726409
GRCh38: 12:39332607-39332607
7 TUBA1A NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp) SNV Pathogenic 988578 GRCh37: 12:49578933-49578933
GRCh38: 12:49185150-49185150
8 KIF21A NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) SNV Pathogenic 2436 rs121912585 GRCh37: 12:39726207-39726207
GRCh38: 12:39332405-39332405
9 KIF21A NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) SNV Pathogenic 2436 rs121912585 GRCh37: 12:39726207-39726207
GRCh38: 12:39332405-39332405
10 KIF21A NM_001173464.2(KIF21A):c.1067T>C (p.Met356Thr) SNV Pathogenic 2439 rs121912588 GRCh37: 12:39752128-39752128
GRCh38: 12:39358326-39358326
11 KIF21A NM_001173464.2(KIF21A):c.84C>G (p.Cys28Trp) SNV Pathogenic 219258 rs864321718 GRCh37: 12:39764024-39764024
GRCh38: 12:39370222-39370222
12 TUBA1A NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) SNV Likely pathogenic 988579 GRCh37: 12:49579682-49579682
GRCh38: 12:49185899-49185899
13 TUBA1A NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) SNV Likely pathogenic 988580 GRCh37: 12:49578956-49578956
GRCh38: 12:49185173-49185173
14 MT-TL1 NC_012920.1:m.3275C>T SNV Uncertain significance 370045 rs1057516057 GRCh37: MT:3275-3275
GRCh38: MT:3275-3275
15 KIF21A NM_017641.3(KIF21A):c.-335C>G SNV Uncertain significance 308604 rs886049351 GRCh37: 12:39837107-39837107
GRCh38: 12:39443305-39443305
16 KIF21A NM_001173464.2(KIF21A):c.*690dup Duplication Uncertain significance 308533 rs34373131 GRCh37: 12:39687535-39687536
GRCh38: 12:39293733-39293734
17 KIF21A NM_001173464.2(KIF21A):c.*845dup Duplication Uncertain significance 308530 rs886049334 GRCh37: 12:39687380-39687381
GRCh38: 12:39293578-39293579
18 KIF21A NM_001173464.2(KIF21A):c.681T>C (p.His227=) SNV Uncertain significance 881093 GRCh37: 12:39760886-39760886
GRCh38: 12:39367084-39367084
19 KIF21A NM_001173464.2(KIF21A):c.2503C>T (p.Arg835Trp) SNV Uncertain significance 881506 GRCh37: 12:39726894-39726894
GRCh38: 12:39333092-39333092
20 KIF21A NM_001173464.2(KIF21A):c.2492C>G (p.Thr831Arg) SNV Uncertain significance 881507 GRCh37: 12:39726905-39726905
GRCh38: 12:39333103-39333103
21 KIF21A NM_001173464.2(KIF21A):c.197T>C (p.Ile66Thr) SNV Uncertain significance 881558 GRCh37: 12:39763911-39763911
GRCh38: 12:39370109-39370109
22 KIF21A NM_001173464.2(KIF21A):c.44+15C>G SNV Uncertain significance 881559 GRCh37: 12:39836714-39836714
GRCh38: 12:39442912-39442912
23 KIF21A NM_001173464.2(KIF21A):c.44+5G>A SNV Uncertain significance 881560 GRCh37: 12:39836724-39836724
GRCh38: 12:39442922-39442922
24 KIF21A NM_001173464.2(KIF21A):c.4814G>A (p.Gly1605Glu) SNV Uncertain significance 882353 GRCh37: 12:39695399-39695399
GRCh38: 12:39301597-39301597
25 KIF21A NM_001173464.2(KIF21A):c.4268G>A (p.Arg1423Gln) SNV Uncertain significance 882624 GRCh37: 12:39703397-39703397
GRCh38: 12:39309595-39309595
26 KIF21A NM_001173464.2(KIF21A):c.3915T>C (p.Asp1305=) SNV Uncertain significance 882626 GRCh37: 12:39709766-39709766
GRCh38: 12:39315964-39315964
27 KIF21A NM_001173464.2(KIF21A):c.1899A>G (p.Ser633=) SNV Uncertain significance 882671 GRCh37: 12:39735329-39735329
GRCh38: 12:39341527-39341527
28 KIF21A NM_001173464.2(KIF21A):c.*582G>A SNV Uncertain significance 883358 GRCh37: 12:39687644-39687644
GRCh38: 12:39293842-39293842
29 KIF21A NM_001173464.2(KIF21A):c.*531T>C SNV Uncertain significance 883359 GRCh37: 12:39687695-39687695
GRCh38: 12:39293893-39293893
30 KIF21A NM_001173464.2(KIF21A):c.1279A>G (p.Met427Val) SNV Uncertain significance 883448 GRCh37: 12:39751176-39751176
GRCh38: 12:39357374-39357374
31 KIF21A NM_001173464.2(KIF21A):c.3887dup (p.Asn1296fs) Duplication Uncertain significance 632188 rs1565724702 GRCh37: 12:39711895-39711896
GRCh38: 12:39318093-39318094
32 KIF21A NM_001173464.2(KIF21A):c.3877_3878insTTAAT (p.Ser1293fs) Insertion Uncertain significance 632189 rs1565724893 GRCh37: 12:39711905-39711906
GRCh38: 12:39318103-39318104
33 KIF21A NM_017641.3(KIF21A):c.-392G>C SNV Uncertain significance 308607 rs886049354 GRCh37: 12:39837164-39837164
GRCh38: 12:39443362-39443362
34 KIF21A NM_001173464.2(KIF21A):c.3554C>T (p.Pro1185Leu) SNV Uncertain significance 883401 GRCh37: 12:39716587-39716587
GRCh38: 12:39322785-39322785
35 KIF21A NM_017641.3(KIF21A):c.-245C>T SNV Uncertain significance 308602 rs886049350 GRCh37: 12:39837017-39837017
GRCh38: 12:39443215-39443215
36 KIF21A NM_017641.3(KIF21A):c.-339C>A SNV Uncertain significance 308605 rs886049352 GRCh37: 12:39837111-39837111
GRCh38: 12:39443309-39443309
37 KIF21A NM_017641.3(KIF21A):c.-203C>G SNV Uncertain significance 308600 rs886049349 GRCh37: 12:39836975-39836975
GRCh38: 12:39443173-39443173
38 KIF21A NM_017641.3(KIF21A):c.-345G>A SNV Uncertain significance 308606 rs886049353 GRCh37: 12:39837117-39837117
GRCh38: 12:39443315-39443315
39 KIF21A NM_001173464.2(KIF21A):c.2418+2T>C SNV Uncertain significance 632190 rs1565839016 GRCh37: 12:39730896-39730896
GRCh38: 12:39337094-39337094
40 KIF21A NM_001173464.2(KIF21A):c.2744T>C (p.Ile915Thr) SNV Uncertain significance 308567 rs886049344 GRCh37: 12:39726505-39726505
GRCh38: 12:39332703-39332703
41 KIF21A NM_001173464.2(KIF21A):c.-146G>A SNV Uncertain significance 308596 rs886049347 GRCh37: 12:39836918-39836918
GRCh38: 12:39443116-39443116
42 KIF21A NM_001173464.2(KIF21A):c.4528A>C (p.Ile1510Leu) SNV Uncertain significance 308550 rs886049340 GRCh37: 12:39698655-39698655
GRCh38: 12:39304853-39304853
43 KIF21A NM_001173464.2(KIF21A):c.*326T>A SNV Uncertain significance 308541 rs886049337 GRCh37: 12:39687900-39687900
GRCh38: 12:39294098-39294098
44 KIF21A NM_001173464.2(KIF21A):c.*1022A>T SNV Uncertain significance 308527 rs886049331 GRCh37: 12:39687204-39687204
GRCh38: 12:39293402-39293402
45 KIF21A NM_001173464.2(KIF21A):c.4264A>G (p.Ile1422Val) SNV Uncertain significance 308553 rs886049341 GRCh37: 12:39703401-39703401
GRCh38: 12:39309599-39309599
46 KIF21A NM_001173464.2(KIF21A):c.3872C>A (p.Thr1291Asn) SNV Uncertain significance 308556 rs886049342 GRCh37: 12:39711911-39711911
GRCh38: 12:39318109-39318109
47 KIF21A NM_001173464.2(KIF21A):c.2798T>A (p.Ile933Asn) SNV Uncertain significance 308565 rs886049343 GRCh37: 12:39726451-39726451
GRCh38: 12:39332649-39332649
48 KIF21A NM_001173464.2(KIF21A):c.4891G>A (p.Ala1631Thr) SNV Uncertain significance 308545 rs886049339 GRCh37: 12:39695322-39695322
GRCh38: 12:39301520-39301520
49 KIF21A NM_001173464.2(KIF21A):c.268-14G>T SNV Uncertain significance 308591 rs762377796 GRCh37: 12:39763727-39763727
GRCh38: 12:39369925-39369925
50 KIF21A NM_001173464.2(KIF21A):c.*1010T>C SNV Uncertain significance 308528 rs886049332 GRCh37: 12:39687216-39687216
GRCh38: 12:39293414-39293414

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

72 (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

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 GO:0005874 8.62 TUBA1A KIF21A

Sources for Fibrosis of Extraocular Muscles, Congenital, 1

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