COLON
MCID: CLB003
MIFTS: 38

Coloboma of Optic Nerve (COLON) 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 52 11 48 24 70 12 39 13
Coloboma of Optic Disc 11 27 68
Morning Glory Disc Anomaly 52 68
Optic Nerve Coloboma 48 27
Colon 70 2
Coloboma of Optic Nerve Optic Nerve Head Pits, Bilateral Congenital, Included 52
 
Optic Nerve Head Pits, Bilateral Congenital 48
Congenital Coloboma of the Optic Nerve 48
Morning Glory Syndrome 54
Volubilis Syndrome 54
Ectasic Coloboma 54

Characteristics:

Orphanet epidemiological data:

54
morning glory syndrome:
Age of onset: Childhood

HPO:

64
coloboma of optic nerve:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 120430
Disease Ontology11 DOID:11975
ICD9CM32 377.23
Orphanet54 ORPHA35737
UMLS via Orphanet69 C0549307
ICD10 via Orphanet31 Q14.2

Summaries for Coloboma of Optic Nerve

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6). Affiliated tissues include eye, retina and colon, and related mouse phenotypes are craniofacial and renal/urinary system.

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UniProtKB/Swiss-Prot:70 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:71 Coloboma of optic nerve, is a rare defect of the optic nerve that causes moderate to severe visual field... more...

Description from OMIM:52 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 13)
idRelated DiseaseScoreTop Affiliating Genes
1papillorenal syndrome11.3
2cavitary optic disc anomalies11.2
311.0
4encephalocele10.3
5retinal detachment10.2
6retinitis10.1
7aniridia10.0
8neurofibromatosis, type 210.0
9amblyopia10.0
10optic nerve glioma10.0
11neurofibromatosis10.0
12glioma10.0
13severe combined immunodeficiency, b cell-negative9.8OFD1, PAX6

Graphical network of diseases related to Coloboma of Optic Nerve:



Diseases related to coloboma of optic nerve

Symptoms & Phenotypes 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:

 54 64 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus64 54 Very frequent (99-80%) HP:0000486
2 cataract64 54 Occasional (29-5%) HP:0000518
3 retinal detachment64 54 Occasional (29-5%) HP:0000541
4 optic nerve coloboma64 54 Occasional (29-5%) HP:0000588
5 nystagmus64 54 Occasional (29-5%) HP:0000639
6 amblyopia64 54 Very frequent (99-80%) HP:0000646
7 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703

MGI Mouse Phenotypes related to Coloboma of Optic Nerve according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.8OFD1, PAX6
2MP:00053679.1OFD1, PAX6

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 18192
2Ophthalmic SolutionsPhase 11140

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 Disc27
2 Optic Nerve Coloboma27
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:

36
Eye, Retina, Colon, Brain

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet