MCID: CLB003
MIFTS: 36

Coloboma of Optic Nerve malady

Rare diseases, Eye diseases, Neuronal diseases categories
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Summaries for Coloboma of Optic Nerve

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Coloboma of optic nerve, is a rare defect of the optic nerve that causes moderate to severe visual field... more...

MalaCards: Coloboma of Optic Nerve, also known as coloboma of optic disc, is related to encephalocele and encephaloceles, and has symptoms including coloboma of the optic nerve, retinal detachment and strabismus/squint. An important gene associated with Coloboma of Optic Nerve is PAX6 (paired box 6). Affiliated tissues include eye and retina.

Description from OMIM:47 120430

Aliases & Classifications for Coloboma of Optic Nerve

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 22GTR, 62UMLS, 49Orphanet, 58SNOMED-CT, 27ICD9CM, 35MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
morning glory syndrome:
Age of onset: Childhood


Aliases & Descriptions:

coloboma of optic nerve 8 9 43 47
coloboma of optic disc 8 22 62
optic nerve head pits, bilateral congenital 43
congenital coloboma of the optic nerve 43
pathological dilatation 62
morning glory syndrome 49
optic nerve coloboma 43
volubilis syndrome 49
ectasic coloboma 49


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Disease Ontology8 DOID:11975
OMIM47 120430
ICD9CM27 377.23
MeSH35 C535970
ICD10 via Orphanet26 Q14.2
UMLS via Orphanet63 C0549307

Related Diseases for Coloboma of Optic Nerve

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Clinical features from OMIM:

120430

Symptoms:

49 (show all 8)
  • coloboma of the optic nerve
  • retinal detachment
  • strabismus/squint
  • visual loss/blindness/amblyopia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • retinitis pigmentosa/retinal pigmentary changes
  • cataract/lens opacification
  • nystagmus

Drugs & Therapeutics for Coloboma of Optic Nerve

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Coloboma of Optic Nerve

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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Coloboma of Optic Nerve:

33
Eye, 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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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Coloboma of Optic Nerve:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Coloboma of Optic Nerve

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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
  • Lysates
  • Antibodies

Sources for Coloboma of Optic Nerve

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet