COLON
MCID: CLB003
MIFTS: 44

Coloboma of Optic Nerve (COLON)

Categories: Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coloboma of Optic Nerve

MalaCards integrated aliases for Coloboma of Optic Nerve:

Name: Coloboma of Optic Nerve 58 12 77 54 76 13 45 15
Coloboma of Optic Disc 12 60 30 6 41 74
Morning Glory Disc Anomaly 58 54 60 74
Morning Glory Syndrome 12 54 60
Ectasic Coloboma 54 60
Colon 76 3
Optic Nerve Head Pits, Bilateral Congenital 54
Congenital Coloboma of the Optic Nerve 54
Coloboma of Optic Papilla 60
Optic Nerve Coloboma 54
Volubilis Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
morning glory disc anomaly
Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant
? same as 120200


HPO:

33
coloboma of optic nerve:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:11975
OMIM 58 120430
ICD9CM 36 377.23
SNOMED-CT 69 17541006 44295002
ICD10 via Orphanet 35 Q14.2
UMLS via Orphanet 75 C0549307

Summaries for Coloboma of Optic Nerve

NIH Rare Diseases : 54 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.

MalaCards based summary : Coloboma of Optic Nerve, also known as coloboma of optic disc, is related to microphthalmia and coloboma of macula. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and P38 MAPK Signaling Pathway (sino). Affiliated tissues include eye, retina and brain, and related phenotypes are abnormality of retinal pigmentation and strabismus

CDC : 3 Colorectal cancer is cancer that occurs in the colon or rectum. Sometimes it is called colon cancer, for short. As the drawing shows, the colon is the large intestine or large bowel. The rectum is the passageway that connects the colon to the anus.

UniProtKB/Swiss-Prot : 76 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 : 77 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 top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 30.0 ABCB6 PAX2 PAX6
2 coloboma of macula 29.6 ABCB6 FZD5 PAX2 PAX6 SALL2
3 charge syndrome 29.4 PAX2 PROKR2
4 coloboma of optic papilla 12.5
5 papillorenal syndrome 11.7
6 cavitary optic disc anomalies 11.5
7 hypomandibular faciocranial dysostosis 11.2
8 encephalocele 10.6
9 basal encephalocele 10.4
10 glioma 10.4
11 peripapillary staphyloma 10.4
12 persistent hyperplastic primary vitreous 10.3
13 aniridia 1 10.2
14 retinal detachment 10.2
15 monocular esotropia 10.2
16 suppression amblyopia 10.2
17 amblyopia 10.2
18 turner syndrome 10.2
19 optic nerve glioma 10.2
20 hypopituitarism 10.2
21 esotropia 10.2
22 optic pathway glioma 10.2
23 moyamoya disease 1 10.2
24 pituitary hormone deficiency, combined, 2 10.2
25 vesicoureteral reflux 1 10.2
26 multiple sclerosis 10.1
27 glaucoma, primary open angle 10.1
28 poland syndrome 10.1
29 peters-plus syndrome 10.1
30 brown syndrome 10.1
31 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
32 isolated growth hormone deficiency 10.1
33 open-angle glaucoma 10.1
34 uveitis 10.1
35 pituitary adenoma 10.1
36 adenoma 10.1
37 skin tag 10.1
38 macular holes 10.1
39 47,xyy 10.1
40 growth hormone deficiency 10.1
41 combined pituitary hormone deficiency 10.1
42 neuronal migration disorders 10.1
43 congenital aphakia 10.0 PAX2 PAX6
44 hypertropia 10.0 ALX3 KANTR
45 cleft palate, isolated 10.0
46 down syndrome 10.0
47 salla disease 10.0
48 orofaciodigital syndrome 10.0
49 retinal degeneration 10.0
50 pax2-related disorder 10.0

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:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
2 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
3 amblyopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000646
4 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
5 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
6 retinal detachment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000541
7 optic nerve coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000588

Symptoms via clinical synopsis from OMIM:

58
Eyes:
retinal detachment
bilateral coloboma of optic nerve

Clinical features from OMIM:

120430

MGI Mouse Phenotypes related to Coloboma of Optic Nerve:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.81 ABCB6 ALX3 AVP FZD5 OFD1 PAX2
2 embryo MP:0005380 9.73 ALX3 FZD5 OFD1 PAX2 PAX6 SALL2
3 nervous system MP:0003631 9.56 ALX3 AVP FZD5 OFD1 PAX2 PAX6
4 renal/urinary system MP:0005367 9.02 AVP OFD1 PAX2 PAX6 SALL2

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 Not Applicable
2 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:

# Genetic test Affiliating Genes
1 Coloboma of Optic Disc 30 PAX6

Anatomical Context for Coloboma of Optic Nerve

MalaCards organs/tissues related to Coloboma of Optic Nerve:

42
Eye, Retina, Brain, Colon, Pituitary, Testes, Skin

Publications for Coloboma of Optic Nerve

Articles related to Coloboma of Optic Nerve:

# Title Authors Year
1
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. ( 12721955 )
2003
2
Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. ( 6548623 )
1984
3
Coloboma of optic nerve with overlay of peripapillary retina. ( 666981 )
1978
4
Coloboma of optic nerve. ( 20288287 )
1947
5
Coloboma of Optic Nerve (? Traumatic). ( 19982510 )
1922

Variations for Coloboma of Optic Nerve

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

76
# Symbol AA change Variation ID SNP ID
1 PAX6 p.Phe258Ser VAR_017542 rs121907925

ClinVar genetic disease variations for Coloboma of Optic Nerve:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh37 Chromosome 11, 31811483: 31811483
2 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh38 Chromosome 11, 31789935: 31789935
3 PAX6 NM_000280.4(PAX6): c.202C> T (p.Pro68Ser) single nucleotide variant Pathogenic rs121907923 GRCh37 Chromosome 11, 31823264: 31823264
4 PAX6 NM_000280.4(PAX6): c.202C> T (p.Pro68Ser) single nucleotide variant Pathogenic rs121907923 GRCh38 Chromosome 11, 31801716: 31801716
5 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
6 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh38 Chromosome 11, 31793795: 31793795
7 complex Uncertain significance
8 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh38 Chromosome 11, 31793787: 31793787
9 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh37 Chromosome 11, 31815335: 31815335

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 10.85 PAX2 PAX6
2 10.42 FZD5 PAX6

GO Terms for Coloboma of Optic Nerve

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

# Name GO ID Score Top Affiliating Genes
1 centriolar satellite GO:0034451 8.62 OFD1 PAX2

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.32 AVP PAX2
2 camera-type eye development GO:0043010 9.26 PAX2 PAX6
3 eye development GO:0001654 9.16 PAX6 SALL2
4 cell fate determination GO:0001709 8.96 PAX2 PAX6
5 embryonic camera-type eye morphogenesis GO:0048596 8.62 FZD5 PAX6

Sources for Coloboma of Optic Nerve

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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