MCID: CLB003
MIFTS: 29

Coloboma of Optic Nerve malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Aliases & Classifications for Coloboma of Optic Nerve

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Coloboma of Optic Nerve, Aliases & Descriptions:

Name: Coloboma of Optic Nerve 45 9 10 41
Coloboma of Optic Disc 9 22 60
Optic Nerve Head Pits, Bilateral Congenital 41
 
Congenital Coloboma of the Optic Nerve 41
Morning Glory Disc Anomaly 45
Optic Nerve Coloboma 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases


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OMIM45 120430
Disease Ontology9 DOID:11975
MeSH33 C535970
ICD9CM27 377.23

Summaries for Coloboma of Optic Nerve

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Wikipedia:63 Coloboma of optic nerve, is a rare defect of the optic nerve that causes moderate to severe visual field... more...

MalaCards based summary: Coloboma of Optic Nerve, also known as coloboma of optic disc, is related to retinitis and coloboma, and has symptoms including autosomal dominant inheritance, retinal detachment and optic nerve coloboma. An important gene associated with Coloboma of Optic Nerve is PAX6 (paired box 6). Affiliated tissues include retina.

Description from OMIM:45 120430

Related Diseases for Coloboma of Optic Nerve

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Graphical network of the top 20 diseases related to Coloboma of Optic Nerve:



Diseases related to coloboma of optic nerve

Symptoms for Coloboma of Optic Nerve

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Symptoms by clinical synopsis from OMIM:

120430

Clinical features from OMIM:

120430

HPO human phenotypes related to Coloboma of Optic Nerve:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 retinal detachment HP:0000541
3 optic nerve coloboma HP:0000588

Drugs & Therapeutics for Coloboma of Optic Nerve

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Drug clinical trials:

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Search NIH Clinical Center for Coloboma of Optic Nerve

Genetic Tests for Coloboma of Optic Nerve

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Genetic tests related to Coloboma of Optic Nerve:

id Genetic test Affiliating Genes
1 Coloboma of Optic Disc22

Anatomical Context for Coloboma of Optic Nerve

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MalaCards organs/tissues related to Coloboma of Optic Nerve:

31
Retina

Animal Models for Coloboma of Optic Nerve or affiliated genes

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Publications for Coloboma of Optic Nerve

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Articles related to Coloboma of Optic Nerve:

idTitleAuthorsYear
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

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Clinvar genetic disease variations for Coloboma of Optic Nerve:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PAX6NM_000280.4(PAX6): c.202C> T (p.Pro68Ser)single nucleotide variantPathogenicrs121907923GRCh37Chr 11, 31823264: 31823264

Expression for genes affiliated with Coloboma of Optic Nerve

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

Pathways for genes affiliated with Coloboma of Optic Nerve

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Compounds for genes affiliated with Coloboma of Optic Nerve

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GO Terms for genes affiliated with Coloboma of Optic Nerve

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Products for genes affiliated with Coloboma of Optic Nerve

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  • Antibodies
  • Proteins
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  • Antibodies
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Sources for Coloboma of Optic Nerve

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet