Coloboma of Optic Nerve (COLON)

Categories: Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Coloboma of Optic Nerve

MalaCards integrated aliases for Coloboma of Optic Nerve:

Name: Coloboma of Optic Nerve 57 11 19 75 73 28 12 5 43 14
Morning Glory Disc Anomaly 57 19 58 28 71
Coloboma of Optic Disc 11 58 38 71 33
Morning Glory Syndrome 11 19 58
Coloboma of Optic Papilla 58 33
Ectasic Coloboma 19 58
Optic Nerve Head Pits, Bilateral Congenital 19
Coloboma of Optic Disc, Unspecified Eye 33
Congenital Coloboma of the Optic Nerve 19
Congenital Coloboma of Optic Disc 33
Optic Nerve Coloboma 19
Optic Disk Coloboma 33
Volubilis Syndrome 19
Colon 73



Autosomal dominant 57

Age Of Onset:

Morning Glory Disc Anomaly: Childhood 58


Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 11 DOID:11975
OMIM® 57 120430
ICD9CM 34 377.23
SNOMED-CT 68 44295002
ICD10 31 Q14.2
ICD10 via Orphanet 32 Q14.2
UMLS via Orphanet 72 C0549307
ICD11 33 592278969
UMLS 71 C0155299 C4017663

Summaries for Coloboma of Optic Nerve

GARD: 19 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 not completely formed. The condition may occur in one or both eyes. The degree of visual impairment varies widely depending on the severity and structures involved. Detachments of the retina may occur in in people who have Coloboma of optic nerve. Other associated symptoms may include 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 change and be inherited, or may occur as a feature of an underlying syndrome or other genetic condition.

MalaCards based summary: Coloboma of Optic Nerve, also known as morning glory disc anomaly, is related to papillorenal syndrome and wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal commitment pathway. Affiliated tissues include colon, eye and retina, and related phenotypes are abnormality of retinal pigmentation and strabismus

Orphanet 58 Morning glory disc anomaly: A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.

Coloboma of optic disc: Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal).

UniProtKB/Swiss-Prot: 73 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: 75 Coloboma of optic nerve is a rare defect of the optic nerve that causes moderate to severe visual field... more...

More information 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 top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 33.0 PAX6 PAX2 CRYAA
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 31.8 PAX6 IMMP1L ELP4 DNAJC24
3 pathologic nystagmus 31.1 PAX6 CRYAA
4 esotropia 31.0 RS1 PAX6 CRYAA
5 anisometropia 31.0 PAX6 CRYAA
6 retinal perforation 30.9 RS1 CRYGS CRYAA
7 scleral staphyloma 30.9 PAX2 CRYAA
8 amblyopia 30.8 PAX6 CRYGS CRYAA
9 hypopituitarism 30.8 SIX3 PROKR2 PAX6
10 congenital ptosis 30.7 PAX6 CRYAA ALX4
11 charge syndrome 30.6 PROKR2 PAX2 NSMF
12 retinochoroidal coloboma 30.5 SALL2 PAX6 FZD5 ABCB6
13 persistent hyperplastic primary vitreous 30.5 PAX6 PAX2 FZD5 CRYGS CRYAA
14 optic nerve hypoplasia, bilateral 30.4 PAX6 EXT2 ELP4 ALX4
15 renal hypodysplasia/aplasia 1 30.3 PROKR2 PAX2 NSMF
16 coloboma of iris 30.3 SALL2 PAX6 FZD5 ABCB6
17 coloboma, ocular, autosomal dominant 30.3 PAX6 PAX2 FZD5 ELP4
18 choanal atresia, posterior 30.2 TBX22 PROKR2 NSMF
19 cataract 30.2 PAX6 PAX2 ELP4 CRYGS CRYAA
20 microphthalmia 30.2 SIX3 SALL2 PAX6 PAX2 CRYAA ABCB6
21 septooptic dysplasia 30.2 SIX3 PROKR2 PAX6 NSMF
22 anterior segment dysgenesis 30.1 SIX3 PAX6 PAX2 ELP4 CRYAA
23 retinal detachment 30.1 RS1 PAX6 PAX2
24 kallmann syndrome 30.0 TBX22 SIX3 PROKR2 NSMF
25 coloboma of macula 29.9 SIX3 SALL2 PROKR2 PAX6 PAX2 OFD1
26 aniridia 1 29.5 SIX3 PAX6 PAX2 IMMP1L ELP4 DNAJC24
27 hypomandibular faciocranial dysostosis 11.3
28 congenital disorder of glycosylation, type iq 11.3
29 coloboma of optic papilla 11.3
30 cavitary optic disc anomalies 11.2
31 encephalocele 10.7
32 strabismus 10.6
33 corpus callosum, agenesis of 10.6
34 moyamoya disease 1 10.6
35 basal encephalocele 10.6
36 hypertelorism 10.5
37 cleft lip 10.5
38 peripapillary staphyloma 10.5
39 hemangioma 10.5
40 optic nerve glioma 10.5
41 refractive error 10.5
42 cleft lip/palate 10.5
43 isolated growth hormone deficiency 10.4
44 aniridia 2 10.4 PAX6 ELP4
45 frontonasal dysplasia 1 10.4
46 glioma susceptibility 1 10.4
47 phace association 10.4
48 ptosis 10.4
49 retinal vascular disease 10.4
50 cerebrovascular disease 10.4

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

Human phenotypes related to Coloboma of Optic Nerve:

58 30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
2 strabismus 58 30 Hallmark (90%) Very frequent (99-80%)
3 amblyopia 58 30 Hallmark (90%) Very frequent (99-80%)
4 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
5 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
6 retinal detachment 58 30 Occasional (7.5%) Occasional (29-5%)
7 optic disc coloboma 30 Occasional (7.5%) HP:0000588
8 optic nerve coloboma 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
retinal detachment
bilateral coloboma of optic nerve

Clinical features from OMIM®:

120430 (Updated 08-Dec-2022)

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

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ABCB6 ALX4 CRYAA CRYGS DHX37 ELP4
2 no effect GR00402-S-2 10.14 ABCB6 ALX4 CRYGS DHX37 FZD5 IMMP1L

MGI Mouse Phenotypes related to Coloboma of Optic Nerve:

# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.81 ALX4 DNAJC24 EXT2 FZD5 OFD1 PAX2
2 digestive/alimentary MP:0005381 9.5 ALX4 FZD5 NSMF OFD1 PAX6 SIX3
3 mortality/aging MP:0010768 9.44 ABCB6 ALX4 DHX37 DNAJC24 EXT2 FZD5

Drugs & Therapeutics for Coloboma of Optic Nerve

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025

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:

# Genetic test Affiliating Genes
1 Coloboma of Optic Nerve 28 PAX6
2 Morning Glory Disc Anomaly 28

Anatomical Context for Coloboma of Optic Nerve

Organs/tissues related to Coloboma of Optic Nerve:

MalaCards : Colon, Eye, Retina, Lymph Node, Brain, Breast, Small Intestine

Publications for Coloboma of Optic Nerve

Articles related to Coloboma of Optic Nerve:

(show top 50) (show all 30367)
# Title Authors PMID Year
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 62 57 5
12721955 2003
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. 57
10711890 2000
Bilateral congenital optic nerve head pits in monozygotic siblings. 57
9402835 1997
Optic nerve colobomas of autosomal-dominant heredity. 57
945057 1976
Distinct effects of fiber and colon segment on microbiota-derived indoles and short-chain fatty acids. 62
35961168 2023
Dietary N-carbamylglutamate and L-arginine supplementation improves redox status and suppresses apoptosis in the colon of intrauterine growth-retarded suckling lambs. 62
36329684 2022
High Rate of Positive Circumferential Resection Margin in Colon Cancer: A National Appraisal and Call for Action. 62
33630474 2022
Fucoidan, as an immunostimulator promotes M1 macrophage differentiation and enhances the chemotherapeutic sensitivity of capecitabine in colon cancer. 62
36170928 2022
Early-stage colon cancer with high MALAT1 expression is associated with the 5-Fluorouracil resistance and future metastasis. 62
35794508 2022
Disparities in utilization of robotic surgery for colon cancer: an evaluation of the U.S. National Cancer Database. 62
35059958 2022
Intracorporeal anastomosis versus extracorporeal anastomosis after laparoscopic right hemicolectomy for colon cancer: morbidity comparison at long-term follow-up. 62
35230035 2022
Colon Targeted Eudragit Coated Beads Loaded with Optimized Fluvastatin-Scorpion Venom Conjugate as a Potential Approach for Colon Cancer Therapy: In Vitro Anticancer Activity and In Vivo Colon Imaging. 62
36007556 2022
Multimodal imaging in differential diagnosis between papilledema and choroidal neovascularization associated with morning glory syndrome. 62
36464666 2022
Case report: is there a link between morning glory syndrome and TANGO2 mutation disease, or is this an unusual association? 62
36402401 2022
A case of transanal barotrauma by high-pressure compressed air leading to transverse colon perforation with extensive colon serosal tear. 62
36274293 2022
A Comparative Systematic Analysis of The Influence of Microplastics on Colon Cells, Mouse and Colon Organoids. 62
36374371 2022
ASO Visual Abstract: Prediction of Metachronous Peritoneal Metastases After Radical Surgery for Colon Cancer: A Scoring System Obtained from an International Multicenter Cohort. 62
36057898 2022
Larotrectinib induces autophagic cell death through AMPK/mTOR signalling in colon cancer. 62
36251949 2022
Recyclable Endogenous H2 S Activation of Self-Assembled Nanoprobe with Controllable Biodegradation for Synergistically Enhanced Colon Cancer-Specific Therapy. 62
36180395 2022
CEBPB regulates the bile acid receptor FXR to accelerate colon cancer progression by modulating aerobic glycolysis. 62
36129029 2022
Colon cancer therapy with calcium phosphate nanoparticles loading bioactive compounds from Euphorbia lathyris: In vitro and in vivo assay. 62
36156367 2022
Laparoscopic colectomy for T4 colon cancer conferred an increased risk of peritoneal recurrence: A meta-analysis. 62
35599115 2022
A novel oncolytic virus induces a regional cytokine storm and safely eliminates malignant ascites of colon cancer. 62
35510373 2022
Nuclear receptor subfamily 3 group c member 2 (NR3C2) is downregulated due to hypermethylation and plays a tumor-suppressive role in colon cancer. 62
35604518 2022
Impact of the ileal microbiota on colon cancer. 62
34624451 2022
Chemokines in colon cancer progression. 62
35183412 2022
Emerging trends in the application of gold nanoformulations in colon cancer diagnosis and treatment. 62
34843989 2022
Concomitant aortic, inferior mesenteric artery thrombosis and sigmoid colon perforation in severe COVID-19 disease. 62
34629480 2022
Application of in vivo traction-assisted resection of proximal colon lesions: a case series (with video). 62
35511341 2022
Site-selective oral delivery of therapeutic antibodies to the inflamed colon via a folic acid-grafted organic/inorganic hybrid nanocomposite system. 62
36386471 2022
Identification of Quiescent LGR5+ Stem Cells in the Human Colon. 62
35963362 2022
Exploring the pathophysiology of LARS after low anterior resection for rectal cancer with high-resolution colon manometry. 62
35866548 2022
DNA methyltransferase 3A controls intestinal epithelial barrier function and regeneration in the colon. 62
36271073 2022
Gender-based effect of absence of gut microbiota on the protective efficacy of Bifidobacterium longum-fermented rice bran diet against inflammation-associated colon tumorigenesis. 62
35856887 2022
Histone deacetylase 1 and 3 inhibitors alleviate colon inflammation by inhibiting Th17 cell differentiation. 62
36106389 2022
Association between antibiotic consumption and colon and rectal cancer development in older individuals: A territory-wide study. 62
35488387 2022
Synbiotic microencapsulation of Enterococcus faecium Rp1: a potential probiotic isolated from ragi porridge with antiproliferative property against colon carcinoma cell line. 62
36193351 2022
Translation of IDEA trial results into clinical practice: Analysis of the implementation of a new guideline for colon cancer. 62
35657640 2022
Colon cancer CT staging according to mismatch repair status: Comparison and suggestion of imaging features for high-risk colon cancer. 62
36029713 2022
Modulating the Siah2-PHD3-HIF1α axis and/or autophagy potentially retard colon cancer proliferation possibly, due to the damping of colon cancer stem cells. 62
35994813 2022
Prognostic Impact of Early Treatment and Oxaliplatin Discontinuation in Patients With Stage III Colon Cancer: An ACCENT/IDEA Pooled Analysis of 11 Adjuvant Trials. 62
36306483 2022
Oral Nanomotor-Enabled Mucus Traverse and Tumor Penetration for Targeted Chemo-Sono-Immunotherapy against Colon Cancer. 62
36117129 2022
Retraction notice to "Methyltransferase-like 1 (METTL1) served as a tumor suppressor in colon cancer by activating 7-methyguanosine (m7G) regulated let-7e miRNA/HMGA2 axis" [Life Sci. 249 (2020) 117480]. 62
35840424 2022
Designing new nanoliposomal formulations and evaluating their effects on myeloid-derived suppressor cells and regulatory T cells in a colon cancer model aiming to develop an efficient delivery system for cancer treatment; an in vitro and in vivo study. 62
34698408 2022
BRD9 Inhibition by Natural Polyphenols Targets DNA Damage/Repair and Apoptosis in Human Colon Cancer Cells. 62
36297001 2022
Locoregionally Recurrent Colon Cancer: How Far Have We Come? A Population-Based, Retrospective Cohort Study. 62
36261752 2022
Metabolism-Based Molecular Subtyping Endows Effective Ketogenic Therapy in p53-Mutant Colon Cancer. 62
36031388 2022
Induction of immunogenic cell death in murine colon cancer cells by ferrocene-containing redox phospholipid polymers. 62
35950374 2022
Property evaluation of two anticancer candidate platinum complexes with N-isobutyl glycine ligand against human colon cancer. 62
35829930 2022
Final Analysis of 3 Versus 6 Months of Adjuvant Oxaliplatin and Fluoropyrimidine-Based Therapy in Patients With Stage III Colon Cancer: The Randomized Phase III ACHIEVE Trial. 62
35512259 2022

Variations for Coloboma of Optic Nerve

ClinVar genetic disease variations for Coloboma of Optic Nerve:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX6 NM_001368894.2(PAX6):c.244C>T (p.Pro82Ser) SNV Pathogenic
3475 rs121907923 GRCh37: 11:31823264-31823264
GRCh38: 11:31801716-31801716
2 PAX6 NM_001368894.2(PAX6):c.815T>C (p.Phe272Ser) SNV Pathogenic
3477 rs121907925 GRCh37: 11:31815343-31815343
GRCh38: 11:31793795-31793795
3 PAX6 NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) SNV Pathogenic
279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
4 ELP4, PAX6 NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) SNV Pathogenic
3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
5 ELP4, PAX6 NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs) DEL Pathogenic
638055 rs757946805 GRCh37: 11:31811484-31811490
GRCh38: 11:31789936-31789942
6 DHX37 NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) SNV Likely Pathogenic
691929 rs1424699115 GRCh37: 12:125455894-125455894
GRCh38: 12:124971348-124971348
7 PAX6 NM_001368894.2(PAX6):c.1198A>G (p.Met400Val) SNV Uncertain Significance
1034147 rs1230504203 GRCh37: 11:31812285-31812285
GRCh38: 11:31790737-31790737
8 ELP4, PAX6 NM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys) SNV Uncertain Significance
932051 rs755181141 GRCh37: 11:31811492-31811492
GRCh38: 11:31789944-31789944

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

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

Expression for Coloboma of Optic Nerve

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

Pathways for Coloboma of Optic Nerve

Pathways related to Coloboma of Optic Nerve according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 PAX6 FZD5 EXT2 ELP4

GO Terms for Coloboma of Optic Nerve

Biological processes related to Coloboma of Optic Nerve according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 eye development GO:0001654 9.76 SIX3 SALL2 RS1 PAX6
2 embryonic camera-type eye morphogenesis GO:0048596 9.67 PAX6 FZD5
3 forebrain dorsal/ventral pattern formation GO:0021798 9.62 SIX3 PAX6
4 lens development in camera-type eye GO:0002088 9.56 SIX3 PAX6 CRYGS CRYAA
5 telencephalon regionalization GO:0021978 9.43 SIX3 PAX6
6 visual perception GO:0007601 9.4 SIX3 RS1 PAX6 PAX2 CRYGS CRYAA

Molecular functions related to Coloboma of Optic Nerve according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 HMG box domain binding GO:0071837 8.92 PAX6 ALX4

Sources for Coloboma of Optic Nerve

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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