MCID: CLB003
MIFTS: 42

Coloboma of Optic Nerve

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

Aliases & Classifications for Coloboma of Optic Nerve

MalaCards integrated aliases for Coloboma of Optic Nerve:

Name: Coloboma of Optic Nerve 53 12 72 49 71 13 41 14
Coloboma of Optic Disc 12 55 28 69
Morning Glory Disc Anomaly 53 69
Optic Nerve Coloboma 49 28
Colon 71 3
Optic Nerve Head Pits, Bilateral Congenital 49
Congenital Coloboma of the Optic Nerve 49
Coloboma of Optic Papilla 55
Morning Glory Syndrome 55
Volubilis Syndrome 55
Ectasic Coloboma 55

Characteristics:

Orphanet epidemiological data:

55
morning glory syndrome
Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant
? same as 120200


HPO:

31
coloboma of optic nerve:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 120430
Disease Ontology 12 DOID:11975
ICD9CM 34 377.23
UMLS via Orphanet 70 C0549307
ICD10 via Orphanet 33 Q14.2
SNOMED-CT via HPO 65 263681008 42059000

Summaries for Coloboma of Optic Nerve

NIH Rare Diseases : 49 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 coloboma of macula and coloboma of optic papilla, and has symptoms including retinal detachment, optic nerve coloboma and nystagmus. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6), and among its related pathways/superpathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include eye, colon and retina, and related phenotypes are Decreased human papilloma virus 16 (HPV16) pseudovirus infection and embryo

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UniProtKB/Swiss-Prot : 71 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 : 72 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:

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 28.2 ABCB6 FZD5 PAX6 SALL2
2 coloboma of optic papilla 12.3
3 papillorenal syndrome 11.5
4 cavitary optic disc anomalies 11.3
5 morning glory syndrome 11.3
6 retinitis 10.3
7 microphthalmia 9.4 ABCB6 PAX6
8 coloboma of eye lens 8.9 ABCB6 FZD5 PAX6 SALL2
9 coloboma of eyelid 8.8 ABCB6 FZD5 PAX6 SALL2
10 coloboma, ocular, autosomal dominant 8.8 ABCB6 FZD5 PAX6 SALL2

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:

53
Eyes:
bilateral coloboma of optic nerve
retinal detachment


Clinical features from OMIM:

120430

Human phenotypes related to Coloboma of Optic Nerve:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 retinal detachment 55 31 Occasional (29-5%) HP:0000541
2 optic nerve coloboma 55 31 Occasional (29-5%) HP:0000588
3 nystagmus 55 Occasional (29-5%)
4 cataract 55 Occasional (29-5%)
5 abnormality of retinal pigmentation 55 Very frequent (99-80%)
6 strabismus 55 Very frequent (99-80%)
7 amblyopia 55 Very frequent (99-80%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 8.8 ABCB6 PAX6 SALL2

MGI Mouse Phenotypes related to Coloboma of Optic Nerve:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 SALL2 FZD5 OFD1 PAX6
2 mortality/aging MP:0010768 9.02 ABCB6 FZD5 OFD1 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
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 28 PAX6
2 Optic Nerve Coloboma 28

Anatomical Context for Coloboma of Optic Nerve

MalaCards organs/tissues related to Coloboma of Optic Nerve:

38
Eye, Colon, Retina, Brain, Testes

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:

71
# 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.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

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

# Super pathways Score Top Affiliating Genes
1 11.31 FZD5 PAX6
2 11.1 FZD5 PAX6
3 10.42 FZD5 PAX6

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 8.96 PAX6 SALL2
2 embryonic camera-type eye morphogenesis GO:0048596 8.62 FZD5 PAX6

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

# Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.62 PAX6 SALL2

Sources for Coloboma of Optic Nerve

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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