Congenital Fibrosis of the Extraocular Muscles malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases
Aliases & Descriptions for Congenital Fibrosis of the Extraocular Muscles:
Orphanet epidemiological data:51
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases
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
MalaCards organs/tissues related to Congenital Fibrosis of the Extraocular Muscles:33
Eye, Thymus, Skin, Ovary, Tongue, Tonsil, Testis
Articles related to Congenital Fibrosis of the Extraocular Muscles:(show all 35)
Search GEO for disease gene expression data for Congenital Fibrosis of the Extraocular Muscles.
Pathways related to Congenital Fibrosis of the Extraocular Muscles according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet