Tukel Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases
Aliases & Descriptions for Tukel Syndrome:
Orphanet epidemiological data:53
congenital fibrosis of extraocular muscles:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable
Inheritance: autosomal recessive inheritance
Penetrance: penetrance in cfeom1a, cfeom1b, cfeom2, cfeom3b, cfeom3c, and tukel syndrome is complete...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases
Genetics Home Reference:25 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: Tukel Syndrome, also known as congenital fibrosis of the extraocular muscles, is related to kif21a-related congenital fibrosis of the extraocular muscles and phox2a-related congenital fibrosis of the extraocular muscles, and has symptoms including ptosis, syndactyly and compensatory chin elevation. An important gene associated with Tukel Syndrome is TUBB3 (Tubulin Beta 3 Class III). Affiliated tissues include eye and bone, and related mouse phenotypes are nervous system and cellular.
Disease Ontology:11 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.
Description from OMIM:51 609428
GeneReviews for NBK1348
Human phenotypes related to Tukel Syndrome:63 (show all 9)
MalaCards organs/tissues related to Tukel Syndrome:35
MGI Mouse Phenotypes related to Tukel Syndrome:40
Search GEO for disease gene expression data for Tukel Syndrome.
Cellular components related to Tukel Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Tukel Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet