MCID: CLB003
MIFTS: 43

Coloboma of Optic Nerve

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

Aliases & Classifications for Coloboma of Optic Nerve

MalaCards integrated aliases for Coloboma of Optic Nerve:

Name: Coloboma of Optic Nerve 54 12 50 24 71 13 42 14
Coloboma of Optic Disc 12 56 29 69
Morning Glory Disc Anomaly 54 69
Optic Nerve Coloboma 50 29
Colon 71 3
Optic Nerve Head Pits, Bilateral Congenital 50
Congenital Coloboma of the Optic Nerve 50
Coloboma of Optic Papilla 56
Morning Glory Syndrome 56
Volubilis Syndrome 56
Ectasic Coloboma 56

Characteristics:

Orphanet epidemiological data:

56
morning glory syndrome
Age of onset: Childhood;

OMIM:

54
Inheritance:
? same as 120200
autosomal dominant


HPO:

32
coloboma of optic nerve:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 120430
Disease Ontology 12 DOID:11975
ICD9CM 35 377.23
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 coloboma of optic papilla and papillorenal syndrome, 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. 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 Decreased human papilloma virus 16 (HPV16) pseudovirus infection and embryo

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.

CDC : 3 Tweet This

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:

(show all 11)
id Related Disease Score Top Affiliating Genes
1 coloboma of optic papilla 12.2
2 papillorenal syndrome 11.4
3 cavitary optic disc anomalies 11.2
4 morning glory syndrome 11.2
5 coloboma 10.1
6 partial optic atrophy 9.6 ABCB6 PAX6
7 coloboma porencephaly hydronephrosis 8.5 ABCB6 FZD5 PAX6 SALL2
8 butterfly-shaped pigment dystrophy 8.4 ABCB6 FZD5 PAX6 SALL2
9 lacticacidemia due to pdx1 deficiency 8.3 ABCB6 FZD5 PAX6 SALL2
10 malignant tumor of undescended testis 8.1 ABCB6 FZD5 PAX6 SALL2
11 coloboma, ocular 8.0 ABCB6 FZD5 OFD1 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:

54

Eyes:
bilateral coloboma of optic nerve
retinal detachment


Clinical features from OMIM:

120430

Human phenotypes related to Coloboma of Optic Nerve:

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

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

26
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 FZD5 OFD1 PAX6 SALL2
2 mortality/aging MP:0010768 9.02 ABCB6 FZD5 OFD1 PAX6 SALL2

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 Drugs
1 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1
2 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
3 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:

39
Eye, Retina, Colon, Brain, Testes

Publications for Coloboma of Optic Nerve

Articles related to Coloboma of Optic Nerve:

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

ClinVar genetic disease variations for Coloboma of Optic Nerve:

6
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

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

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 8.32 PAX6

Sources for Coloboma of Optic Nerve

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....