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

Aliases & Descriptions for Coloboma of Optic Nerve:

Name: Coloboma of Optic Nerve 54 12 50 24 66 13 42 14
Coloboma of Optic Disc 12 29 69
Morning Glory Disc Anomaly 54 69
Optic Nerve Coloboma 50 29
Colon 66 3
Coloboma of Optic Nerve Optic Nerve Head Pits, Bilateral Congenital, Included 54
Optic Nerve Head Pits, Bilateral Congenital 50
Congenital Coloboma of the Optic Nerve 50
Morning Glory Syndrome 56
Volubilis Syndrome 56
Ectasic Coloboma 56


Orphanet epidemiological data:

morning glory syndrome
Age of onset: Childhood;


coloboma of optic nerve:
Inheritance autosomal dominant inheritance


Orphanet: 56  
Rare eye diseases

External Ids:

OMIM 54 120430
Disease Ontology 12 DOID:11975
ICD9CM 35 377.23
Orphanet 56 ORPHA35737
UMLS via Orphanet 70 C0549307
ICD10 via Orphanet 34 Q14.2
UMLS 69 C0155299

Summaries for Coloboma of Optic Nerve

NIH Rare Diseases : 50 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 nystagmus, cataract and abnormality of retinal pigmentation. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6). The drugs Ophthalmic Solutions and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and colon, and related phenotypes are craniofacial and renal/urinary system

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UniProtKB/Swiss-Prot : 66 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: 120430

Related Diseases for Coloboma of Optic Nerve

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

(show all 12)
id Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 11.3
2 cavitary optic disc anomalies 11.2
3 encephalocele 10.3
4 retinal detachment 10.2
5 retinitis 10.1
6 glioma 10.0
7 aniridia 10.0
8 neurofibromatosis, type 2 10.0
9 amblyopia 10.0
10 optic nerve glioma 10.0
11 neurofibromatosis 10.0
12 severe combined immunodeficiency, b cell-negative 9.8 OFD1 PAX6

Graphical network of the top 20 diseases related to Coloboma of Optic Nerve:

Diseases related to Coloboma of Optic Nerve

Symptoms & Phenotypes for Coloboma of Optic Nerve

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Coloboma of Optic Nerve:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 Occasional (29-5%) HP:0000639
2 cataract 56 32 Occasional (29-5%) HP:0000518
3 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
4 strabismus 56 32 Very frequent (99-80%) HP:0000486
5 retinal detachment 56 32 Occasional (29-5%) HP:0000541
6 amblyopia 56 32 Very frequent (99-80%) HP:0000646
7 optic nerve coloboma 56 32 Occasional (29-5%) HP:0000588

MGI Mouse Phenotypes related to Coloboma of Optic Nerve:

id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 OFD1 PAX6
2 renal/urinary system MP:0005367 8.62 OFD1 PAX6

Drugs & Therapeutics for Coloboma of Optic Nerve

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

id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 1
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:

id Name Status NCT ID Phase
1 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1
2 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
3 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
4 Family Studies of Uveal Coloboma Terminated NCT00368004

Search NIH Clinical Center for Coloboma of Optic Nerve

Cochrane evidence based reviews: coloboma of optic nerve

Genetic Tests for Coloboma of Optic Nerve

Genetic tests related to Coloboma of Optic Nerve:

id Genetic test Affiliating Genes
1 Coloboma of Optic Disc 29
2 Optic Nerve Coloboma 29
3 Coloboma of Optic Nerve 24 PAX6

Anatomical Context for Coloboma of Optic Nerve

MalaCards organs/tissues related to Coloboma of Optic Nerve:

Eye, Retina, Colon, Brain

Publications for Coloboma of Optic Nerve

Articles related to Coloboma of Optic Nerve:

id Title Authors Year
Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. ( 6548623 )
Coloboma of optic nerve with overlay of peripapillary retina. ( 666981 )
Coloboma of optic nerve. ( 20288287 )
Coloboma of Optic Nerve (? Traumatic). ( 19982510 )

Variations for Coloboma of Optic Nerve

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

id Symbol AA change Variation ID SNP ID
1 PAX6 p.Phe258Ser VAR_017542 rs121907925

ClinVar genetic disease variations for Coloboma of Optic Nerve:

id Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.202C> T (p.Pro68Ser) single nucleotide variant Pathogenic rs121907923 GRCh37 Chromosome 11, 31823264: 31823264
2 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343

Expression for Coloboma of Optic Nerve

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

Pathways for Coloboma of Optic Nerve

GO Terms for Coloboma of Optic Nerve

Sources for Coloboma of Optic Nerve

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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