MCID: CLB003
MIFTS: 36

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 51 11 47 24 69 12 38
Coloboma of Optic Disc 11 26 67
Morning Glory Disc Anomaly 51 67
Optic Nerve Coloboma 47 26
Colon 69 2
Coloboma of Optic Nerve Optic Nerve Head Pits, Bilateral Congenital, Included 51
 
Optic Nerve Head Pits, Bilateral Congenital 47
Congenital Coloboma of the Optic Nerve 47
Morning Glory Syndrome 53
Volubilis Syndrome 53
Ectasic Coloboma 53

Characteristics:

Orphanet epidemiological data:

53
morning glory syndrome:
Age of onset: Childhood

HPO:

63
coloboma of optic nerve:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 120430
Disease Ontology11 DOID:11975
ICD9CM31 377.23
Orphanet53 ORPHA35737
UMLS via Orphanet68 C0549307
ICD10 via Orphanet30 Q14.2

Summaries for Coloboma of Optic Nerve

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NIH Rare Diseases:47 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 cavitary optic disc anomalies, 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:69 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:70 Coloboma of optic nerve, is a rare defect of the optic nerve that causes moderate to severe visual field... more...

Description from OMIM:51 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 syndrome11.3
2cavitary optic disc anomalies11.2
3encephalocele10.3
4retinal detachment10.2
5retinitis10.2
6aniridia10.0
7neurofibromatosis, type 210.0
8amblyopia10.0
9optic nerve glioma10.0
10glioma10.0

Graphical network of diseases related to Coloboma of Optic Nerve:



Diseases related to coloboma of optic nerve

Symptoms for Coloboma of Optic Nerve

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Symptoms by clinical synopsis from OMIM:

120430

Clinical features from OMIM:

120430

Human phenotypes related to Coloboma of Optic Nerve:

 63 53 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus63 53 hallmark (90%) Very frequent (99-80%) HP:0000486
2 visual impairment63 hallmark (90%) HP:0000505
3 optic atrophy63 hallmark (90%) HP:0000648
4 abnormality of retinal pigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007703
5 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
6 retinal detachment63 53 occasional (7.5%) Occasional (29-5%) HP:0000541
7 optic nerve coloboma63 53 occasional (7.5%) Occasional (29-5%) HP:0000588
8 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
9 amblyopia53 Very frequent (99-80%)

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
1Pharmaceutical SolutionsPhase 17793
2Ophthalmic SolutionsPhase 11092

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
4Family 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 Disc26
2 Optic Nerve Coloboma26
3 Coloboma of Optic Nerve24 PAX6

Anatomical Context for Coloboma of Optic Nerve

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MalaCards organs/tissues related to Coloboma of Optic Nerve:

35
Eye, Colon, Retina, Brain, Testes

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:

69
id Symbol AA change Variation ID SNP ID
1PAX6p.Phe258SerVAR_017542rs121907925

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)SNVPathogenicrs121907923GRCh37Chr 11, 31823264: 31823264
2PAX6NM_000280.4(PAX6): c.773T> C (p.Phe258Ser)SNVPathogenicrs121907925GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet