COLON
MCID: CLB003
MIFTS: 45

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 57 12 76 53 75 13 44 15
Coloboma of Optic Disc 12 59 29 6 40 73
Morning Glory Syndrome 12 53 59
Morning Glory Disc Anomaly 57 73
Volubilis Syndrome 53 59
Ectasic Coloboma 53 59
Colon 75 3
Optic Nerve Head Pits, Bilateral Congenital 53
Congenital Coloboma of the Optic Nerve 53
Coloboma of Optic Papilla 59
Optic Nerve Coloboma 53

Characteristics:

Orphanet epidemiological data:

59
morning glory syndrome
Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant
? same as 120200


HPO:

32
coloboma of optic nerve:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 120430
Disease Ontology 12 DOID:11975
ICD9CM 35 377.23
SNOMED-CT 68 17541006 44295002
UMLS via Orphanet 74 C0549307
ICD10 via Orphanet 34 Q14.2

Summaries for Coloboma of Optic Nerve

NIH Rare Diseases : 53 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 nystagmus and cataract

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UniProtKB/Swiss-Prot : 75 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 : 76 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 55)
# Related Disease Score Top Affiliating Genes
1 microphthalmia 29.8 PAX6 PAX2 ABCB6
2 coloboma of macula 29.5 ABCB6 FZD5 PAX2 PAX6 SALL2
3 coloboma of optic papilla 12.4
4 papillorenal syndrome 11.7
5 hypomandibular faciocranial dysostosis 11.2
6 cavitary optic disc anomalies 11.2
7 encephalocele 10.6
8 basal encephalocele 10.4
9 glioma 10.4
10 peripapillary staphyloma 10.4
11 persistent hyperplastic primary vitreous 10.3
12 neurofibromatosis, type iv, of riccardi 10.2
13 retinal detachment 10.2
14 monocular esotropia 10.2
15 amblyopia 10.2
16 turner syndrome 10.2
17 optic nerve glioma 10.2
18 hypopituitarism 10.2
19 esotropia 10.2
20 optic pathway glioma 10.2
21 multiple sclerosis 10.1
22 glaucoma, primary open angle 10.1
23 poland syndrome 10.1
24 moyamoya disease 1 10.1
25 peters-plus syndrome 10.1
26 pituitary hormone deficiency, combined, 2 10.1
27 brown syndrome 10.1
28 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
29 isolated growth hormone deficiency 10.1
30 open-angle glaucoma 10.1
31 uveitis 10.1
32 pituitary adenoma 10.1
33 adenoma 10.1
34 skin tag 10.1
35 47,xyy 10.1
36 growth hormone deficiency 10.1
37 combined pituitary hormone deficiency 10.1
38 neuronal migration disorders 10.1
39 cleft palate, isolated 9.9
40 down syndrome 9.9
41 vesicoureteral reflux 1 9.9
42 alkuraya-kucinskas syndrome 9.9
43 orofaciodigital syndrome 9.9
44 retinal degeneration 9.9
45 pax2-related disorder 9.9
46 dandy-walker complex 9.9
47 tetraploidy 9.9
48 optic disc pit 9.9
49 congenital aphakia 9.9 PAX2 PAX6
50 axenfeld-rieger syndrome, type 1 9.9 PAX6 PAX2

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 via clinical synopsis from OMIM:

57
Eyes:
retinal detachment
bilateral coloboma of optic nerve


Clinical features from OMIM:

120430

Human phenotypes related to Coloboma of Optic Nerve:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
3 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
4 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
5 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
6 amblyopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000646
7 optic nerve coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000588

MGI Mouse Phenotypes related to Coloboma of Optic Nerve:

46
# 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 29 PAX6

Anatomical Context for Coloboma of Optic Nerve

MalaCards organs/tissues related to Coloboma of Optic Nerve:

41
Eye, Retina, Brain, Colon, Skin, Testes, Pituitary

Publications for Coloboma of Optic Nerve

Articles related to Coloboma of Optic Nerve:

# Title Authors Year
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

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

75
# 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.202C> T (p.Pro68Ser) single nucleotide variant Pathogenic rs121907923 GRCh37 Chromosome 11, 31823264: 31823264
2 PAX6 NM_000280.4(PAX6): c.202C> T (p.Pro68Ser) single nucleotide variant Pathogenic rs121907923 GRCh38 Chromosome 11, 31801716: 31801716
3 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
4 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh38 Chromosome 11, 31793795: 31793795

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 positive regulation of transcription by RNA polymerase II GO:0045944 9.71 FZD5 PAX2 PAX6 SALL2
2 multicellular organism development GO:0007275 9.67 ALX3 FZD5 PAX2 PAX6
3 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043154 9.32 AVP PAX2
4 camera-type eye development GO:0043010 9.26 PAX2 PAX6
5 eye development GO:0001654 9.16 PAX6 SALL2
6 cell fate determination GO:0001709 8.96 PAX2 PAX6
7 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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