MCID: CLB003
MIFTS: 34

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 50 11 46 23 68 12 37
Coloboma of Optic Disc 11 25 66
Morning Glory Disc Anomaly 50 66
Optic Nerve Coloboma 46 25
Colon 68 2
Coloboma of Optic Nerve Optic Nerve Head Pits, Bilateral Congenital, Included 50
 
Optic Nerve Head Pits, Bilateral Congenital 46
Congenital Coloboma of the Optic Nerve 46
Morning Glory Syndrome 52
Volubilis Syndrome 52
Ectasic Coloboma 52

Characteristics:

Orphanet epidemiological data:

52
morning glory syndrome:
Age of onset: Childhood

HPO:

62
coloboma of optic nerve:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 120430
Disease Ontology11 DOID:11975
ICD9CM30 377.23
Orphanet52 ORPHA35737
ICD10 via Orphanet29 Q14.2
UMLS via Orphanet67 C0549307

Summaries for Coloboma of Optic Nerve

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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.

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.

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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

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:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1papillorenal syndrome11.5
2encephalocele10.5
3cavitary optic disc anomalies10.3
4retinal detachment10.3
5retinitis10.3
6aniridia10.1
7neurofibromatosis, type 210.1
8amblyopia10.1
9optic nerve glioma10.1
10neurofibromatosis10.1
11glioma10.1

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

Symptoms:

 52 (show all 7)
  • strabismus
  • cataract
  • retinal detachment
  • optic nerve coloboma
  • nystagmus
  • amblyopia
  • abnormal retinal pigmentation

HPO human phenotypes related to Coloboma of Optic Nerve:

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

Drugs & Therapeutics for Coloboma of Optic Nerve

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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 Disc25
2 Optic Nerve Coloboma25
3 Coloboma of Optic Nerve23 PAX6

Anatomical Context for Coloboma of Optic Nerve

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MalaCards organs/tissues related to Coloboma of Optic Nerve:

34
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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet