Coloboma of Optic Nerve malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Neuronal diseases, Cancer diseases
Aliases & Descriptions for Coloboma of Optic Nerve:
Orphanet epidemiological data:52
morning glory syndrome:
Age of onset: Childhood
coloboma of optic nerve:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Eye diseases, Gastrointestinal diseases, Neuronal diseases
ICD10: 29 28
Rare eye diseases
NIH Rare Diseases:46 Coloboma of the optic nerve is a congenital eye abnormality in which the optic nerve (which carries images of what the eye sees to the brain) is incompletely formed. the condition may occur in one or both eyes. the degree of visual impairment varies widely depending on the severity and structures involved. serous detachments of the retina commonly occur in affected people, with a high risk for extensive retinal detachment. the coloboma may be associated with other features, such as a small eye (microphthalmia) with or without a cyst; small cornea (microcornea); or coloboma of other eye structures. although the condition is present from birth, diagnosis may be delayed since the coloboma is inside the eye and not visible by simple inspection. coloboma of the optic nerve may occur sporadically, may be due to a genetic mutation and be inherited, or may occur as a feature of an underlying syndrome or other genetic condition. there is no treatment to correct an optic nerve coloboma, but low vision aids may be helpful for some people. last updated: 10/28/2015
MalaCards based summary: Coloboma of Optic Nerve, also known as coloboma of optic disc, is related to papillorenal syndrome and encephalocele, and has symptoms including strabismus, visual impairment and optic atrophy. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6). Affiliated tissues include eye, colon and retina.
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UniProtKB/Swiss-Prot:68 Coloboma of optic nerve: An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk.
Wikipedia:69 Coloboma of optic nerve, is a rare defect of the optic nerve that causes moderate to severe visual field... more...
Description from OMIM:50 120430
Diseases related to Coloboma of Optic Nerve via text searches within MalaCards or GeneCards Suite gene sharing:(show all 11)
Graphical network of diseases related to Coloboma of Optic Nerve:
Symptoms by clinical synopsis from OMIM:120430
Clinical features from OMIM:120430
Symptoms:52 (show all 7)
HPO human phenotypes related to Coloboma of Optic Nerve:(show all 10)
Interventional clinical trials:
Search NIH Clinical Center for Coloboma of Optic Nerve
MalaCards organs/tissues related to Coloboma of Optic Nerve:34
Eye, Colon, Retina, Brain, Testes
Articles related to Coloboma of Optic Nerve:
UniProtKB/Swiss-Prot genetic disease variations for Coloboma of Optic Nerve:68
Clinvar genetic disease variations for Coloboma of Optic Nerve:5
Search GEO for disease gene expression data for Coloboma of Optic Nerve.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet