MCID: FBR046
MIFTS: 40

Fibrosis of Extraocular Muscles, Congenital, 1

Categories: Genetic 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 53 71 28 13 69
Fibrosis of Extraocular Muscles, Congenital, 3b 53 71 28 69
Blepharoptosis with Absent Eye Movements 53 71
Fibrosis 41 69
Cfeom1 53 71
Congenital Fibrosis of the Extraocular Muscles 69
Ophthalmoplegia, Congenital 53
Congenital Ophthalmoplegia 71
Feom1 Locus 53
Cfeom3b 71
Feom1 71

Characteristics:

OMIM:

53
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:



Summaries for Fibrosis of Extraocular Muscles, Congenital, 1

OMIM : 53 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 (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 below. (135700)

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). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

53
Head And Neck Head:
compensatory chin elevation

Muscle Soft Tissue:
levator palpebrae superioris atrophy
rectus superior atrophy

Head And Neck Eyes:
ptosis, bilateral
congenital fibrosis of extraocular muscles
restrictive external ophthalmoplegia, bilateral
bilateral infraducted eye position (downward gaze)
inability to raise eyes above midline
more
Neurologic Central Nervous System:
absent superior division of oculomotor nerve and corresponding alpha motor neurons


Clinical features from OMIM:

135700

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

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

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


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

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

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

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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 28
2 Fibrosis of Extraocular Muscles, Congenital, 1 28 KIF21A

Anatomical Context for Fibrosis of Extraocular Muscles, Congenital, 1

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

38
Eye

Publications for Fibrosis of Extraocular Muscles, Congenital, 1

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

(show top 50) (show all 11351)
# Title Authors Year
1
Risk factors for persistent Aspergillus respiratory isolation in cystic fibrosis. ( 29444760 )
2018
2
Implementation of a successful eradication protocol for Burkholderia Cepacia complex in cystic fibrosis patients. ( 29444656 )
2018
3
Sphingolipid signaling in renal fibrosis. ( 29343457 )
2018
4
Clinical features and prognostic factors of ten patients with renal failure caused by IgG4-related retroperitoneal fibrosis. ( 29416818 )
2018
5
Longitudinal outcomes of Patients Enrolled in a Phase Ib Clinical Trial of the Adipose Derived Stromal Cells-Stromal Vascular Fraction in Idiopathic Pulmonary Fibrosis. ( 29412521 )
2018
6
Evaluation of transient elastography in assessing liver fibrosis in patients with advanced schistosomiasis japonica. ( 29355611 )
2018
7
Adenovirus-mediated P311 ameliorates renal fibrosis through inhibition of epithelial-mesenchymal transition via TGF-I^1-Smad-ILK pathway in unilateral ureteral obstruction rats. ( 29436600 )
2018
8
Analysis of the Histologic Features Associated With Interobserver Variation in Idiopathic Pulmonary Fibrosis. ( 29438171 )
2018
9
RESPIRE 2: a phase III placebo-controlled randomised trial of ciprofloxacin dry powder for inhalation in non-cystic fibrosis bronchiectasis. ( 29371384 )
2018
10
Idiopathic pulmonary fibrosis in a Swiss interstitial lung disease reference centre. ( 29376545 )
2018
11
Islet Interleukin-1I^ Immunoreactivity Is an Early Feature of Cystic Fibrosis That May Contribute to I^-Cell Failure. ( 29437698 )
2018
12
Liver disease in patients with cystic fibrosis. ( 29438119 )
2018
13
The Immunome in Two Inherited Forms of Pulmonary Fibrosis. ( 29445374 )
2018
14
Evaluation of safety and efficacy of regional anesthesia compared with general anesthesia in thoracoscopic lung biopsy procedure on patient with idiopathic pulmonary fibrosis. ( 29416456 )
2018
15
Wnt9a Promotes Renal Fibrosis by Accelerating Cellular Senescence in Tubular Epithelial Cells. ( 29440280 )
2018
16
Bronchiolitis Obliterans and Pulmonary Fibrosis After Sulfur Mustard Inhalation in Rats. ( 29314868 )
2018
17
First experience in Switzerland in Phe508del homozygous cystic fibrosis patients with end-stage pulmonary disease enrolled in a lumacaftor-ivacaftor therapy trial - preliminary results. ( 29451946 )
2018
18
Unilateral renal forniceal rupture - A rare presentation of retroperitoneal fibrosis. ( 29321975 )
2018
19
Gas exchanges in children with cystic fibrosis or primary ciliary dyskinesia: A retrospective study. ( 29366817 )
2018
20
IL-33 Can Promote the Process of Pulmonary Fibrosis by Inducing the Imbalance Between MMP-9 and TIMP-1. ( 29417309 )
2018
21
Capacity of non-invasive hepatic fibrosis algorithms to replace transient elastography to exclude cirrhosis in people with hepatitis C virus infection: A multi-centre observational study. ( 29438397 )
2018
22
Role of hypoxia-inducible factor-1 in the development of renal fibrosis in mouse obstructed kidney: Special references to HIF-1 dependent gene expression of profibrogenic molecules. ( 29352658 )
2018
23
Aquagenic Wrinkling of the Palms in Patients with Cystic Fibrosis. ( 29451691 )
2018
24
13C-Mixed Triglyceride Breath Test and Fecal Elastase as an Indirect Pancreatic Function Test in Cystic Fibrosis Infants. ( 29432279 )
2018
25
Evolution of the<i>Pseudomonas aeruginosa</i>aminoglycoside mutational resistome in vitro and in the cystic fibrosis setting. ( 29437613 )
2018
26
CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. ( 29388943 )
2018
27
Idiopathic pulmonary fibrosis: idiopathic no more? ( 29413084 )
2018
28
Novel RAS Inhibitors Poricoic Acid ZG and Poricoic Acid ZH Attenuate Renal Fibrosis via a Wnt/I^-Catenin Pathway and Targeted Phosphorylation of smad3 Signaling. ( 29383936 )
2018
29
[<sup>18</sup>F]-Fluorodeoxyglucose Positron Emission Tomography and Response to Therapy in Idiopathic Retroperitoneal Fibrosis. ( 29033102 )
2018
30
Fibrosis-related miRNAs as serum biomarkers for pancreatic ductal adenocarcinoma. ( 29435115 )
2018
31
Inflammation and Fibrosis in Perirenal Adipose Tissue of Patients With Aldosterone-Producing Adenoma. ( 29059354 )
2018
32
Statin Therapy and Outcomes in Trials of Nintedanib in Idiopathic Pulmonary Fibrosis. ( 29414827 )
2018
33
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
34
Renal fungus ball in a patient with retroperitoneal fibrosis: Unique complication in a rare disease. ( 29430718 )
2018
35
Ablation of C/EBP homologous protein attenuates renal fibrosis after ureteral obstruction by reducing autophagy and microtubule disruption. ( 29425932 )
2018
36
Silencing of LncRNA TCONS_00088786 reduces renal fibrosis through miR-132. ( 29364484 )
2018
37
Lack of Correlation of Liver Tests With Fibrosis Stage at Diagnosis in Pediatric Primary Sclerosing Cholangitis. ( 29356767 )
2018
38
Bilateral Tuberculous Pleurisy with Subsequent Upper Lobe Predominant Pulmonary Fibrosis Mimicking Pleuroparenchymal Fibroelastosis. ( 29033441 )
2018
39
Retroperitoneal fibrosis as extramedullary hematopoiesis of a chronic myelomonocytic leukemia. ( 29368535 )
2018
40
TFM classification and Staging of oral submucous fibrosis: A new proposal. ( 29405430 )
2018
41
A PEG-based method for the isolation of urinary exosomes and its application in renal fibrosis diagnostics using cargo miR-29c and miR-21 analysis. ( 29330775 )
2018
42
Clinical Predictors of Right Ventricular Myocardial Fibrosis in Patients With Repaired Tetralogy of Fallot. ( 29353862 )
2018
43
Hypoxia-induced activation of Twist/miR-214/E-cadherin axis promotes renal tubular epithelial cell mesenchymal transition and renal fibrosis. ( 29277613 )
2018
44
Expression of I^1integrin in normal epithelium, oral submucous fibrosis and oral squamous cell carcinoma. ( 29113685 )
2018
45
Angiogenesis and Fibrogenesis in Oral Submucous Fibrosis: A Viewpoint. ( 29422478 )
2018
46
The Four Corners Sign: A Specific Imaging Feature in Differentiating Systemic Sclerosis-related Interstitial Lung Disease From Idiopathic Pulmonary Fibrosis. ( 29346191 )
2018
47
Inhibiting Skp2 E3 Ligase Suppresses Bleomycin-Induced Pulmonary Fibrosis. ( 29415439 )
2018
48
Advances in the Diagnosis and Management of Cystic Fibrosis in the Genomic Era. ( 29436379 )
2018
49
Lung clearance index to monitor treatment response in pulmonary exacerbations in preschool children with cystic fibrosis. ( 29449440 )
2018
50
Retroperitoneal fibrosis associated with IgG4-related disease diagnosed by prostate biopsy developed with acute post-renal renal failure: A case report. ( 29034178 )
2018

Variations for Fibrosis of Extraocular Muscles, Congenital, 1

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

71 (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

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

6
# 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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