MCID: CLB003
MIFTS: 32

Coloboma of Optic Nerve malady

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

Aliases & Classifications for Coloboma of Optic Nerve

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Aliases & Descriptions for Coloboma of Optic Nerve:

Name: Coloboma of Optic Nerve 49 10 11 45 22 67 36
Coloboma of Optic Disc 10 24 65
Morning Glory Disc Anomaly 49 65
Colon 67 2
 
Optic Nerve Head Pits, Bilateral Congenital 45
Congenital Coloboma of the Optic Nerve 45
Optic Nerve Coloboma 45

Characteristics:

HPO:

61
coloboma of optic nerve:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 120430
Disease Ontology10 DOID:11975
ICD9CM29 377.23
UMLS65 C0155299, C4017663

Summaries for Coloboma of Optic Nerve

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NIH Rare Diseases:45 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 coloboma, and has symptoms including abnormality of retinal pigmentation, optic atrophy and visual impairment. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6). Affiliated tissues include eye, colon and retina.

UniProtKB/Swiss-Prot:67 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.

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Wikipedia:68 Coloboma of optic nerve, is a rare defect of the optic nerve that causes moderate to severe visual field... more...

Description from OMIM:49 120430

Related Diseases for Coloboma of Optic Nerve

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Diseases related to Coloboma of Optic Nerve via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1papillorenal syndrome11.5
2coloboma10.2

Symptoms for Coloboma of Optic Nerve

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Symptoms by clinical synopsis from OMIM:

120430

Clinical features from OMIM:

120430

HPO human phenotypes related to Coloboma of Optic Nerve:

(show all 10)
id Description Frequency HPO Source Accession
1 abnormality of retinal pigmentation hallmark (90%) HP:0007703
2 optic atrophy hallmark (90%) HP:0000648
3 visual impairment hallmark (90%) HP:0000505
4 strabismus hallmark (90%) HP:0000486
5 nystagmus occasional (7.5%) HP:0000639
6 optic nerve coloboma occasional (7.5%) HP:0000588
7 retinal detachment occasional (7.5%) HP:0000541
8 cataract occasional (7.5%) HP:0000518
9 optic nerve coloboma HP:0000588
10 retinal detachment HP:0000541

Drugs & Therapeutics for Coloboma of Optic Nerve

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Drugs for Coloboma of Optic Nerve (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Ophthalmic SolutionsPhase 11006
2Pharmaceutical SolutionsPhase 17004
3Liver Extracts3572

Interventional clinical trials:

idNameStatusNCT IDPhase
1Spectral Domain Optical Coherence Tomography Imaging of the Eyes of NeonatesCompletedNCT01404247Phase 1
2Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye DiseasesCompletedNCT00076271
3A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
4Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
5Family Studies of Uveal ColobomaTerminatedNCT00368004

Search NIH Clinical Center for Coloboma of Optic Nerve


Cochrane evidence based reviews: coloboma of optic nerve

Genetic Tests for Coloboma of Optic Nerve

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Genetic tests related to Coloboma of Optic Nerve:

id Genetic test Affiliating Genes
1 Coloboma of Optic Nerve22 PAX6

Anatomical Context for Coloboma of Optic Nerve

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MalaCards organs/tissues related to Coloboma of Optic Nerve:

33
Eye, Colon, Retina, Brain, Liver, Testes, Breast

Animal Models for Coloboma of Optic Nerve or affiliated genes

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Publications for Coloboma of Optic Nerve

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Articles related to Coloboma of Optic Nerve:

idTitleAuthorsYear
1
Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. (6548623)
1984
2
Coloboma of optic nerve with overlay of peripapillary retina. (666981)
1978
3
Coloboma of optic nerve. (20288287)
1947
4
Coloboma of Optic Nerve (? Traumatic). (19982510)
1922

Variations for Coloboma of Optic Nerve

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UniProtKB/Swiss-Prot genetic disease variations for Coloboma of Optic Nerve:

67
id Symbol AA change Variation ID SNP ID
1PAX6p.Phe258SerVAR_017542

Clinvar genetic disease variations for Coloboma of Optic Nerve:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PAX6NM_000280.4(PAX6): c.202C> T (p.Pro68Ser)single nucleotide variantPathogenicrs121907923GRCh37Chr 11, 31823264: 31823264
2PAX6NM_000280.4(PAX6): c.773T> C (p.Phe258Ser)single nucleotide variantPathogenicrs121907925GRCh37Chr 11, 31815343: 31815343

Expression for genes affiliated with Coloboma of Optic Nerve

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Search GEO for disease gene expression data for Coloboma of Optic Nerve.

Pathways for genes affiliated with Coloboma of Optic Nerve

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GO Terms for genes affiliated with Coloboma of Optic Nerve

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Sources for Coloboma of Optic Nerve

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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