CFEOM1
MCID: FBR046
MIFTS: 38

Fibrosis of Extraocular Muscles, Congenital, 1 (CFEOM1) malady

Categories: Genetic diseases

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

Aliases & Descriptions for Fibrosis of Extraocular Muscles, Congenital, 1:

Name: Fibrosis of Extraocular Muscles, Congenital, 1 54 66 29 13 69
Fibrosis of Extraocular Muscles, Congenital, 3b 54 66 69
Congenital Fibrosis of the Extraocular Muscles 3b 24 29
Fibrosis 42 69
Cfeom3b 24 66
Congenital Fibrosis of the Extraocular Muscles 69
Blepharoptosis with Absent Eye Movements 66
Congenital Ophthalmoplegia 66
Cfeom 3b 24
Cfeom1 66
Feom1 66

Characteristics:

HPO:

32
fibrosis of extraocular muscles, congenital, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 135700

Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

OMIM : 54 Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes... (135700) more...

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 esotropia, exotropia and bilateral ptosis. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (Kinesin Family Member 21A). The drugs Ceftazidime and Meropenem have been mentioned in the context of this disorder. Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Fibrosis of Extraocular Muscles, Congenital, 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

Symptoms by clinical synopsis from OMIM:

135700

Clinical features from OMIM:

135700

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

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 esotropia 32 HP:0000565
2 exotropia 32 HP:0000577
3 bilateral ptosis 32 HP:0001488
4 compensatory chin elevation 32 HP:0001477
5 congenital fibrosis of extraocular muscles 32 HP:0001491
6 restrictive external ophthalmoplegia 32 HP:0007936
7 levator palpebrae superioris atrophy 32 HP:0012241
8 superior rectus atrophy 32 HP:0012242

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


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

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 1011)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ceftazidime Approved Phase 4,Phase 2,Phase 3,Phase 1 78439-06-2 5481173
2
Meropenem Approved, Investigational Phase 4,Phase 2,Phase 3 119478-56-7 64778 441130
3
Tobramycin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 32986-56-4 5496 36294
4
Spironolactone Approved Phase 4,Phase 3,Phase 2 1952-01-7, 52-01-7 5833
5
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 79217-60-0, 59865-13-3 5284373 6435893
6
Daclizumab Approved, Investigational Phase 4 152923-56-3
7
Everolimus Approved Phase 4,Phase 3,Phase 2 159351-69-6 6442177
8
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2 53123-88-9 5284616 6436030 46835353
10
Bosentan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147536-97-8 104865
11
Eplerenone Approved Phase 4,Phase 3,Phase 2 107724-20-9 150310 443872
12
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1 64-86-8 6167 2833
13
Peginterferon alfa-2b Approved Phase 4,Phase 3,Phase 2 99210-65-8, 215647-85-1
14
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
16
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
17
Pentoxifylline Approved, Investigational Phase 4,Phase 3,Phase 2 6493-05-6 4740
18
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
19
Procaine Approved, Investigational, Vet_approved Phase 4 59-46-1 4914
20
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 198153-51-4 5360545
21
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 616-91-1 12035
22
Entecavir Approved, Investigational Phase 4,Phase 1,Phase 2 142217-69-4 153941
23
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
24
Febuxostat Approved Phase 4 144060-53-7 134018
25
Nitric Oxide Approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 10102-43-9 145068
26
Nitroglycerin Approved, Investigational Phase 4,Phase 2 55-63-0 4510
27
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 124-94-7 31307
28
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
29
Menthol Approved Phase 4,Phase 3,Phase 1 2216-51-5 16666
30
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 525-66-6 4946
31
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 1 437-38-7 3345
32
Midazolam Approved, Illicit Phase 4,Phase 2,Phase 1 59467-70-8 4192
33
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
34
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
35
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
36
Rifaximin Approved, Investigational Phase 4,Phase 2,Phase 3 80621-81-4 6436173
37
Magnesium oxide Approved Phase 4 1309-48-4 14792
38
Adefovir Dipivoxil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 142340-99-6 60871
39
Telbivudine Approved, Investigational Phase 4,Phase 3 3424-98-4 159269
40
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 83150-76-9 383414 6400441
41
Somatostatin Approved Phase 4,Phase 1,Phase 2 38916-34-6, 51110-01-1 53481605
42
Terlipressin Approved, Investigational Phase 4,Phase 2,Phase 3 14636-12-5 72081
43
Dimenhydrinate Approved Phase 4,Phase 3,Phase 2 523-87-5 441281
44
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 9004-61-9 53477741 24759
45
Cefotaxime Approved Phase 4 63527-52-6 456256 5742673
46
Cefoxitin Approved Phase 4 35607-66-0 441199
47
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
48
Ciprofloxacin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 85721-33-1 2764
49
Lactulose Approved Phase 4,Phase 2 4618-18-2 11333
50
Insulin Glargine Approved Phase 4,Phase 3 160337-95-1

Interventional clinical trials:

(show top 50) (show all 3413)
id Name Status NCT ID Phase
1 Impact of Immunonutrition on the Patients With Cystic Fibrosis Unknown status NCT02048592 Phase 4
2 Duration of Antibiotics in Infective Exacerbations of Cystic Fibrosis Unknown status NCT01044719 Phase 4
3 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4
4 Development of an Imaging Biomarker for Hepatic Fibrosis Using Gadoxetate Disodium Unknown status NCT01783314 Phase 4
5 Fibrosis in Renal Allografts Unknown status NCT00493194 Phase 4
6 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis And Treatment With Sildenafil Unknown status NCT00625079 Phase 4
7 Pulmonary Arterial Hypertension Secondary to Idiopathic Pulmonary Fibrosis and Treatment With Bosentan Unknown status NCT00625469 Phase 4
8 CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone Unknown status NCT00401856 Phase 4
9 Study of Long-Term Peg Intron Vs. Colchicine in Non-Responders. Unknown status NCT00179413 Phase 4
10 Effect of 3g Versus 2 g MMF in Combination With Tacrolimus on Progression of Renal Allograft Interstitial Fibrosis Unknown status NCT01860183 Phase 4
11 Improved Prevention of Perinatal Hepatitis B Transmission Unknown status NCT01133184 Phase 4
12 Efficacy of PTX+IFN Alpha+ RBV on Hepatitis C Virus Coinfected HIV Patients Unknown status NCT02008214 Phase 4
13 Kidney Biopsy Controlled Trial of Calcineurin Inhibitor Withdrawal Unknown status NCT00896012 Phase 4
14 Acute Effect of Sildenafil on Exercise Tolerance and Functional Capacity in COPD, IPF and Post Pneumonectomy Patients Unknown status NCT01382368 Phase 4
15 Tacrolimus to Sirolimus Conversion for Delayed Graft Function Unknown status NCT00931255 Phase 4
16 Placebo Controlled Study Using Lovaza as Treatment for Non-Alcoholic Fatty Liver Disease Unknown status NCT00941642 Phase 4
17 Prospective Study to Measure Vascular Parameters (Ancillary Study of ADEQUATE) Unknown status NCT02154854 Phase 4
18 Pegylated-Interferon and Ribavirin in Hepatitis C Patients With Persistently Normal Alanine Aminotransferase Levels Unknown status NCT00575627 Phase 4
19 Anti-Oxidant Effect on Peritoneal Membrane in Peritoneal Dialysis (PD) Patients Unknown status NCT01111422 Phase 4
20 Comparison the Level of CTGF Protein and Related Cytokine in Pleural Effusion Unknown status NCT00313066 Phase 4
21 Bosentan in Pulmonary Hypertension in Interstitial Lung Disease Treatment Study Unknown status NCT00637065 Phase 4
22 Mineralocorticoid Receptor Antagonist and Kidney Allograft Histology Unknown status NCT01510795 Phase 4
23 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
24 A Clinical Trial to Assess the Efficacy and Safety of the Conversion to Everolimus Unknown status NCT01608412 Phase 4
25 THalidomide on Left ventricUlar Morphology aND Function in congEstive heaRt Failure Unknown status NCT01640639 Phase 4
26 Entecavir for Chronic Hepatitis B Patients With Persistently Normal ALT Unknown status NCT01833611 Phase 4
27 Cytokines Evaluation in Early Calcineurin Inhibitors Withdrawn on Renal Transplant Unknown status NCT01239472 Phase 4
28 Effects of Spironolactone in Dialysis Unknown status NCT01128101 Phase 4
29 The Use of Oral N-Acetyl Cysteine for the Treatment of Chronic Sinonasal Symptoms Unknown status NCT00866866 Phase 4
30 The Effect of Uric Acid Lowering in Type 1 Diabetes Unknown status NCT02344602 Phase 4
31 Evaluation of Early Use of Everolimus (EVE) on Cytomegalovirus (CMV) Infection in Renal Transplant Recipients Unknown status NCT01927588 Phase 4
32 Can Advair and Flovent Reduce Systemic Inflammation Related to Chronic Obstructive Pulmonary Disease (COPD)? A Multi-Center Randomized Controlled Trial Unknown status NCT00120978 Phase 4
33 STARS Breast Trial (Study of Anastrozole and Radiotherapy Sequencing Pilot) Unknown status NCT00126360 Phase 4
34 Endoscopic Band Ligation (EBL) Versus Endoscopic Band Ligation and Propranolol for the Prevention of Variceal Rebleeding Unknown status NCT00966121 Phase 4
35 Endoscopic Band Ligation (EBL) Versus Endoscopic Band Ligation and Propranolol for the Prevention of Variceal Rebleeding in Pts With Previous Variceal Treatment Unknown status NCT00966082 Phase 4
36 Propofol and Fentanyl Versus Midazolam and Fentanyl for Endoscopy Sedation in Cirrhotic Patients Unknown status NCT00906139 Phase 4
37 Antiviral Therapy in Hepatitis B Virus (HBV)-Related Advanced Liver Disease Patients Unknown status NCT00823550 Phase 4
38 Bleb Vascularity Change After Subconjunctival Injection Bevacizumab Unknown status NCT00815594 Phase 4
39 Rifaximin Predicts the Complications of Decompensated Cirrhosis Unknown status NCT02074280 Phase 4
40 Magnesium in Liver Cirrhosis Unknown status NCT01894867 Phase 4
41 Telbivudine Renoprotective Effect in Patients With the HBV-related Liver Cirrhosis: a Randomized Controlled Trial Unknown status NCT01799486 Phase 4
42 Telbivudine Renoprotective Effect in Patients With HBV-related Liver Cirrhosis Unknown status NCT01693679 Phase 4
43 Randomized Comparison of Two Albumin Administration Schedules for Spontaneous Bacterial Peritonitis (SBP) Unknown status NCT00761098 Phase 4
44 Echocardiographic Assessment of Intrapulmonary Vasodilatation: Agitated Saline Versus Polygeline Unknown status NCT00343122 Phase 4
45 Comparison of Terlipressin, Somatostatin, and Octreotide for Control of Variceal Bleeding Unknown status NCT00966355 Phase 4
46 Seprafilm Slurry in the Prevention of Uterine Scarring in Patients Undergoing Hysteroscopic Myomectomy Unknown status NCT01632202 Phase 4
47 An Investigator-blind Multi-center Prospective Study for the Efficacy and Safety of Silicon Gel (Dermatix) Unknown status NCT01004536 Phase 4
48 Comparison of Efficacy of Cefotaxime, Ceftriaxone, and Ciprofloxacin for the Treatment of Spontaneous Bacterial Peritonitis in Patients With Liver Cirrhosis Unknown status NCT01265173 Phase 4
49 Rifaximin Versus Lactulose in Renal Failure Unknown status NCT00748904 Phase 4
50 Effect of Betablocker or Aldosterone Antagonist Therapy on Patients With Liver Cirrhosis Unknown status NCT00332904 Phase 4

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: fibrosis

Genetic Tests for Fibrosis of Extraocular Muscles, Congenital, 1

Genetic tests related to Fibrosis of Extraocular Muscles, Congenital, 1:

id Genetic test Affiliating Genes
1 Fibrosis of Extraocular Muscles, Congenital, 3b 29
2 Fibrosis of Extraocular Muscles, Congenital, 1 29
3 Congenital Fibrosis of the Extraocular Muscles 3b 24

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

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

39
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

Variations for Fibrosis of Extraocular Muscles, Congenital, 1

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

66 (show all 11)
id 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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KIF21A NM_001173464.1(KIF21A): c.2860C> T (p.Arg954Trp) single nucleotide variant Pathogenic rs121912585 GRCh37 Chromosome 12, 39726207: 39726207
2 KIF21A NM_001173464.1(KIF21A): c.2861G> A (p.Arg954Gln) single nucleotide variant Pathogenic rs121912586 GRCh37 Chromosome 12, 39726206: 39726206
3 KIF21A NM_001173464.1(KIF21A): c.3029T> C (p.Ile1010Thr) single nucleotide variant Pathogenic rs121912587 GRCh37 Chromosome 12, 39726038: 39726038
4 KIF21A NM_001173464.1(KIF21A): c.1067T> C (p.Met356Thr) single nucleotide variant Pathogenic rs121912588 GRCh37 Chromosome 12, 39752128: 39752128
5 KIF21A NM_001173464.1(KIF21A): c.2839A> G (p.Met947Val) single nucleotide variant Pathogenic rs121912589 GRCh37 Chromosome 12, 39726410: 39726410
6 KIF21A NM_001173464.1(KIF21A): c.2840T> G (p.Met947Arg) single nucleotide variant Pathogenic rs121912590 GRCh37 Chromosome 12, 39726409: 39726409
7 KIF21A NM_001173464.1(KIF21A): c.2841G> A (p.Met947Ile) single nucleotide variant Pathogenic rs267607200 GRCh37 Chromosome 12, 39726408: 39726408
8 KIF21A NM_001173464.1(KIF21A): c.84C> G (p.Cys28Trp) single nucleotide variant Pathogenic rs864321718 GRCh37 Chromosome 12, 39764024: 39764024

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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