MCID: CNG047
MIFTS: 36

Congenital Fibrosis of the Extraocular Muscles malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Congenital Fibrosis of the Extraocular Muscles

About this section

Aliases & Descriptions for Congenital Fibrosis of the Extraocular Muscles:

Name: Congenital Fibrosis of the Extraocular Muscles 10 21 22 23 65
Cfeom 21 22 23 47
Congenital Fibrosis of Extraocular Muscles 45 23 51
Fibrosis of Extraocular Muscles, Congenital 22 24
Tukel Syndrome 10 65
 
Feom 45 51
Congenital External Ophthalmoplegia 23
Congenital Fibrosis Syndrome 23
General Fibrosis Syndrome 23

Characteristics:

Orphanet epidemiological data:

51
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable

Classifications:



External Ids:

Disease Ontology10 DOID:0080143
Orphanet51 45358
ICD10 via Orphanet28 H49.8
UMLS65 C1836217, C1302995

Summaries for Congenital Fibrosis of the Extraocular Muscles

About this section
Genetics Home Reference:23 Congenital fibrosis of the extraocular muscles is a disorder that affects the muscles that surround the eyes. These muscles control eye movement and the position of the eyes (for example, looking straight ahead). Congenital fibrosis of the extraocular muscles prevents the normal development and function of these muscles. As a result, affected individuals are unable to move their eyes normally. Most people with this condition have difficulty looking upward, and their side-to-side eye movement may also be limited. The eyes may be misaligned such that they look in different directions (strabismus). Instead of moving their eyes, affected individuals may need to turn their head to track moving objects. Additionally, many people with congenital fibrosis of the extraocular muscles have droopy eyelids (ptosis), which further limits their vision.

MalaCards based summary: Congenital Fibrosis of the Extraocular Muscles, also known as cfeom, is related to kif21a-related congenital fibrosis of the extraocular muscles and phox2a-related congenital fibrosis of the extraocular muscles. An important gene associated with Congenital Fibrosis of the Extraocular Muscles is TUBB3 (Tubulin Beta 3 Class III), and among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Cytoskeleton remodeling Neurofilaments. Affiliated tissues include eye, thymus and skin.

Disease Ontology:10 An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.

Wikipedia:68 Congenital fibrosis of the extraocular muscles, or CFEOM, is a class of rare genetic disorders affecting... more...

GeneReviews summary for NBK1348

Related Diseases for Congenital Fibrosis of the Extraocular Muscles

About this section

Diseases in the Congenital Fibrosis of the Extraocular Muscles family:

Fibrosis of Extraocular Muscles, Congenital, 5 Fibrosis of Extraocular Muscles, Congenital, 2
Fibrosis of Extraocular Muscles, Congenital, 1 Fibrosis of Extraocular Muscles, Congenital, 3c
Fibrosis of Extraocular Muscles, Congenital, 3a Kif21a-Related Congenital Fibrosis of the Extraocular Muscles
Phox2a-Related Congenital Fibrosis of the Extraocular Muscles Tubb3-Related Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 1a Congenital Fibrosis of the Extraocular Muscles 1b

Diseases related to Congenital Fibrosis of the Extraocular Muscles via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idRelated DiseaseScoreTop Affiliating Genes
1kif21a-related congenital fibrosis of the extraocular muscles12.7
2phox2a-related congenital fibrosis of the extraocular muscles12.7
3tubb3-related congenital fibrosis of the extraocular muscles12.7
4congenital fibrosis of the extraocular muscles 1a12.7
5congenital fibrosis of the extraocular muscles 1b12.7
6fibrosis of extraocular muscles, congenital, 112.2
7fibrosis of extraocular muscles, congenital, 3a12.0
8fibrosis of extraocular muscles, congenital, 211.8
9fibrosis of extraocular muscles, congenital, 3c11.8
10tukel syndrome11.8
11prostatitis10.4
12neuronitis10.4
13lung cancer10.2
14prostate cancer10.2
15hepatitis c virus10.2
16renal cell carcinoma10.2
17alcohol dependence10.2
18hepatitis10.2
19thalassemia10.2
20lambert-eaton myasthenic syndrome10.2
21zollinger-ellison syndrome10.2
22lymphoma10.2
23cutaneous t cell lymphoma10.2
24stickler syndrome10.2
25opioid abuse10.2
26acanthoma10.2
27hepatitis c10.2
28kernicterus10.2
29gastric antral vascular ectasia10.2
30collecting duct carcinoma10.2
31pleomorphic adenoma10.2
32adenoma10.2
33thyroiditis10.2
34premenstrual tension10.2
35vasculitis10.2
36neuropathy10.2
37psoriasis10.2
38headache10.2
39occipital neuralgia10.2
40autism susceptibility 1710.2KIF21A, PHOX2A
41endometriosis in scar of skin10.1KIF21A, PHOX2A
42ventricular septal defect10.1
43candida glabrata10.1
44hallucinogen abuse10.1KIF21A, PHOX2A
45gallbladder disease10.1KIF21A, PHOX2A
46meckel syndrome 310.1COL25A1, KIF21A
47lipid-rich carcinoma10.0KIF21A, PHOX2A
48partial third-nerve palsy10.0KIF21A, PHOX2A, TUBB3
49total circumpapillary dystrophy of choroid10.0KIF21A, PHOX2A, TUBB3
50ametropic amblyopia10.0KIF21A, PHOX2A, TUBB3

Graphical network of the top 20 diseases related to Congenital Fibrosis of the Extraocular Muscles:



Diseases related to congenital fibrosis of the extraocular muscles

Symptoms for Congenital Fibrosis of the Extraocular Muscles

About this section

Drugs & Therapeutics for Congenital Fibrosis of the Extraocular Muscles

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Congenital Fibrosis of the Extraocular Muscles

Genetic Tests for Congenital Fibrosis of the Extraocular Muscles

About this section

Genetic tests related to Congenital Fibrosis of the Extraocular Muscles:

id Genetic test Affiliating Genes
1 Congenital Fibrosis of the Extraocular Muscles22 TUBB3

Anatomical Context for Congenital Fibrosis of the Extraocular Muscles

About this section

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

33
Eye, Thymus, Skin, Ovary, Tongue, Tonsil, Testis

Animal Models for Congenital Fibrosis of the Extraocular Muscles or affiliated genes

About this section

Publications for Congenital Fibrosis of the Extraocular Muscles

About this section

Articles related to Congenital Fibrosis of the Extraocular Muscles:

(show all 35)
idTitleAuthorsYear
1
Left ventricular geometry and 24-h blood pressure profile in Cushing's syndrome. (27179657)
2016
2
Growth inhibitory and chemo-sensitization effects of naringenin, a natural flavanone purified from Thymus vulgaris, on human breast and colorectal cancer. (26074733)
2015
3
Early hemodynamic performance of the trifecta bioprosthetic valve in patients with aortic valve disease. (24717287)
2014
4
Clear Cell Adenocarcinoma Arising from Clear Cell Adenofibroma of the Ovary: Value of DWI and DCE-MRI. (24172789)
2013
5
Association between infection of virulence cagA gene Helicobacter pylori and laryngeal squamous cell carcinoma. (23860397)
2013
6
Long-term disease control in patients with newly diagnosed multiple myeloma after suspension of lenalidomide therapy. (24265187)
2013
7
Dermatitis artefacta and artefactual skin disease: the need for a psychodermatology multidisciplinary team to treat a difficult condition. (23646995)
2013
8
Editorial comment: cardiac arrest from local anesthetic toxicity after a field block and transversus abdominis plane block: a consequence of miscommunication between the anesthesiologist and surgeon and probable local anesthetic systemic toxicity in a postpartum patient with acute Fatty liver of pregnancy after a transversus abdominis plane block. (25612089)
2013
9
Predictive modeling of in vivo response to gemcitabine in pancreatic cancer. (24068909)
2013
10
Huge lipoma of tongue. (23633822)
2012
11
Identification of a CYP3A form (CYP3A126) in fathead minnow (Pimephales promelas) and characterisation of putative CYP3A enzyme activity. (19898817)
2010
12
Effect of the inosine 5'-monophosphate dehydrogenase inhibitor BMS-566419 on renal fibrosis in unilateral ureteral obstruction in rats. (20832515)
2010
13
The Staphylococcus aureus GGDEF domain-containing protein, GdpS, influences protein A gene expression in a cyclic diguanylic acid-independent manner. (19380471)
2009
14
The Drosophila U7 snRNP proteins Lsm10 and Lsm11 are required for histone pre-mRNA processing and play an essential role in development. (19620235)
2009
15
Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations. (18252712)
2008
16
Increased tumor necrosis factor-alpha concentrations with interleukin-4 concentrations in exacerbations of schizophrenia. (18722671)
2008
17
Cross-talk between LPA1 and epidermal growth factor receptors mediates up-regulation of sphingosine kinase 1 to promote gastric cancer cell motility and invasion. (18701480)
2008
18
Slug is overexpressed in gastric carcinomas and may act synergistically with SIP1 and Snail in the down-regulation of E-cadherin. (17299729)
2007
19
Necl-5/poliovirus receptor interacts in cis with integrin alphaVbeta3 and regulates its clustering and focal complex formation. (17446174)
2007
20
Syntaxin 2 and SNAP-23 are required for regulated surfactant secretion. (15035620)
2004
21
Biological characterization of MLN944: a potent DNA binding agent. (14749475)
2004
22
Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. (15571588)
2004
23
Gelastic fits in a two years old boy with a complex cerebral malformation. (12677544)
2003
24
Follicular dendritic cell sarcoma of the tonsil: report of a rare case. (12955835)
2003
25
Modulation of apoptosis by the cyclin-dependent kinase inhibitor p27(Kip1). (10074476)
1999
26
A clinical trial of minocycline in uncomplicated gonococcal urethritis. (20921774)
1998
27
Georgius Agricola: 1494-1555--mining engineer and physician. His contribution to occupational medicine and the aetiology of bronchus carcinoma. (9254821)
1997
28
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. (8817344)
1996
29
Carboxy-terminal truncation of oryzacystatin II by oryzacystatin-insensitive insect digestive proteinases. (7574723)
1995
30
First non-vertebrate member of the myc gene family is seasonally expressed in an invertebrate testis. (1408141)
1992
31
cGMP phosphodiesterase dependent light-induced scattering changes in suspensions of retinal disc membranes. (1310620)
1992
32
Hyaluronic acid in a cardiac myxoma: a biochemical and histological analysis. (2035257)
1991
33
Meizothrombin formation during factor Xa-catalyzed prothrombin activation. Formation in a purified system and in plasma. (1939210)
1991
34
Altered metabolism of bile alcohol and bile acid in complete extrahepatic cholestasis: qualitative and quantitative aspects. (3655557)
1987
35
Motion aftereffect transfer in the monofixation syndrome. (7097463)
1982

Variations for Congenital Fibrosis of the Extraocular Muscles

About this section

Expression for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

About this section
Search GEO for disease gene expression data for Congenital Fibrosis of the Extraocular Muscles.

Pathways for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

About this section

GO Terms for genes affiliated with Congenital Fibrosis of the Extraocular Muscles

About this section

Biological processes related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule-based processGO:00070179.7TUBB2B, TUBB3
2de novo posttranslational protein foldingGO:00510849.6TUBB2B, TUBB3

Sources for Congenital Fibrosis of the Extraocular Muscles

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet