Details of TUBB3 gene in Homo sapiens
Disease |
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| Disease |
OMIM id |
| Congenital fibrosis of extraocular muscles 3A (CFEOM3A) [MIM:600638]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. |
600638 |
Cortical dysplasia complex with other brain malformations (CDCBM) [MIM:614039]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614039 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of connective tissue, Abnormality of eye movement, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the cranial nerves, Abnormality of the extraocular muscles, Abnormality of the eye, Abnormality of the face, Abnormality of the forebrain, Abnormality of the hand, Abnormality of the head, Abnormality of the joints of the upper limbs, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the seventh cranial nerve, Abnormality of the skeletal system, Abnormality of the upper limb, Abnormality of the wrist, Abnormality of vision, Abnormal joint morphology, Agenesis of corpus callosum, All, Amblyopia, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Autosomal dominant inheritance, Cognitive impairment, Compensatory chin elevation, Congenital fibrosis of extraocular muscles, Contractures of the joints of the upper limbs, Cranial nerve paralysis, Dysplastic corpus callosum, Exotropia, Facial palsy, Flexion contracture, Global developmental delay, Joint contracture of the hand, Limb joint contracture, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Nonprogressive disorder, Onset and clinical course, Pace of progression, Phenotypic abnormality, Phenotypic variability, Ptosis, Specific learning disability, Strabismus, Visual impairment, Wrist flexion contracture.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Tubb3 | --- | --- | --- |
