MCID: CLB003
MIFTS: 37

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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Wikipedia:65 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 encephalocele and basal encephalocele, and has symptoms including retinitis pigmentosa/retinal pigmentary changes, optic nerve anomaly/optic atrophy/anomaly of the papilla and visual loss/blindness/amblyopia. An important gene associated with Coloboma of Optic Nerve is PAX6 (paired box 6). Affiliated tissues include eye and retina.

Description from OMIM:46 120430

Aliases & Classifications for Coloboma of Optic Nerve

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 57SNOMED-CT, 27ICD9CM, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Coloboma of Optic Nerve, Aliases & Descriptions:

Name: Coloboma of Optic Nerve 8 9 42 46 62
Coloboma of Optic Disc 8 22 62
Congenital Coloboma of the Optic Nerve 42 62
Optic Nerve Head Pits, Bilateral Congenital 42
Pathological Dilatation 62
 
Morning Glory Syndrome 48
Optic Nerve Coloboma 42
Volubilis Syndrome 48
Ectasic Coloboma 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
morning glory syndrome:
Age of onset: Childhood


External Ids:

Disease Ontology8 DOID:11975
ICD9CM27 377.23
MeSH34 C535970
OMIM46 120430
ICD10 via Orphanet26 Q14.2
UMLS via Orphanet63 C0549307

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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Clinical features from OMIM:

120430

Symptoms:

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

HPO human phenotypes related to Coloboma of Optic Nerve:

(show all 8)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 visual impairment hallmark (90%) HP:0000505
3 optic atrophy hallmark (90%) HP:0000648
4 abnormal retinal pigmentation hallmark (90%) HP:0007703
5 cataract occasional (7.5%) HP:0000518
6 retinal detachment occasional (7.5%) HP:0000541
7 optic nerve coloboma occasional (7.5%) HP:0000588
8 nystagmus occasional (7.5%) HP:0000639

Drugs & Therapeutics for Coloboma of Optic Nerve

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Drug clinical trials:

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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:

32
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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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 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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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

Sources for Coloboma of Optic Nerve

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet