MCID: CLB003
MIFTS: 39

Coloboma of Optic Nerve malady

Eye diseases, Neuronal diseases categories

Summaries for Coloboma of Optic Nerve

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63Wikipedia, 46OMIM, 32MalaCards
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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: Coloboma of Optic Nerve, also known as coloboma of optic disc, is related to retinitis and coloboma, 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:46 120430

Aliases & Classifications for Coloboma of Optic Nerve

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 22GTR, 60UMLS, 48Orphanet, 56SNOMED-CT, 27ICD9CM, 34MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
morning glory syndrome:
Age of onset: Childhood


Aliases & Descriptions:

coloboma of optic nerve 8 9 42 46
coloboma of optic disc 8 22 60
optic nerve head pits, bilateral congenital 42
congenital coloboma of the optic nerve 42
pathological dilatation 60
morning glory syndrome 48
optic nerve coloboma 42
volubilis syndrome 48
ectasic coloboma 48


External Ids:

Disease Ontology8 DOID:11975
ICD9CM27 377.23
MeSH34 C535970
OMIM46 120430
ICD10 via Orphanet26 Q14.2
UMLS via Orphanet61 C0549307

Related Diseases for Coloboma of Optic Nerve

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17GeneCards, 18GeneDecks
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Diseases related to Coloboma of Optic Nerve via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis10.5
2coloboma10.5
3renal coloboma syndrome10.4
4retinal detachment10.4
5choroiditis10.3
6microphthalmia10.3
7optic nerve disease10.3
8panhypopituitarism10.2
9poland syndrome10.2
10macular holes10.2
11adenoma10.2
12hypopituitarism10.2
13pituitary adenoma10.2
14skin tag10.2
15uveitis10.2
16dandy-walker syndrome10.1
17arachnoiditis10.1
18cleft palate10.1
19vesicoureteral reflux10.1
20hydrolethalus syndrome10.1
21retinal degeneration10.1
2216p11.2 microdeletion10.1
23megacolon9.9
24lymphangiectasis9.9

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



Diseases related to coloboma of optic nerve

Clinical Features for Coloboma of Optic Nerve

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

120430

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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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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50PubMed
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Articles related to Coloboma of Optic Nerve:

(show all 33)
idTitleAuthorsYear
1
Spontaneous resolution of macular detachment associated with congenital anomalies of the optic nerve: coloboma and optic disc pit. (23623023)
2013
2
Treatment of retinal detachment associated with optic nerve head coloboma. (22370657)
2012
3
Treatment of recurrent retinal detachment secondary to optic nerve coloboma with injection of autologous platelet concentrate. (22370676)
2012
4
Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. (21082658)
2010
5
Prenatal magnetic resonance imaging of optic nerve head coloboma. (18264951)
2008
6
Spontaneous resolution of optic nerve coloboma-associated retinal detachment. (15609521)
2004
7
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. (14566649)
2003
8
Differentiation and migration of astrocyte precursor cells and astrocytes in human fetal retina: relevance to optic nerve coloboma. (11511521)
2001
9
Optic nerve coloboma with retinal degeneration associated with cystic microphthalmia of the other eye. (10794267)
2000
10
Coloboma of the lens, optic nerve hypoplasia, and orbital hemangioma--a possible developmental field defect. (9895246)
1998
11
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. (9132492)
1997
12
Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity. (8574421)
1995
13
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. (7795640)
1995
14
Self-assessment quiz. Coloboma of the optic nerve and retina. (7983689)
1994
15
Peripapillary subretinal neovascularization associated with coloboma of the optic nerve. (8311758)
1994
16
Peripapillary subretinal neovascularization associated with coloboma of the optic nerve. (8470992)
1993
17
Spontaneous reattachment of a total retinal detachment in an infant with microphthalmos and an optic nerve coloboma. (1882950)
1991
18
Treatment of sensory retinal detachment associated with optic nerve pit or coloboma. (3173991)
1988
19
Isolated coloboma of the optic nerve head: an echographic evaluation. (3296917)
1987
20
Coloboma of the optic nerve head in Bengal tiger kittens (Panthera tigris tigris). (4036750)
1985
21
Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. (6548623)
1984
22
A discussion of 61 cases of optic nerve coloboma. (6662005)
1983
23
Coloboma of optic nerve with overlay of peripapillary retina. (666981)
1978
24
Coloboma of the optic nerve entrance. (4959584)
1966
25
UNUSUAL COLOBOMA OF THE OPTIC NERVE ENTRANCE. (18170740)
1961
26
Dermoid tumor of the cornea associated with coloboma of the upper lid and optic nerve. (14368844)
1954
27
Coloboma of the optic nerve. (18121101)
1949
28
Coloboma of optic nerve. (20288287)
1947
29
BILATERAL PARTIAL COLOBOMA OF THE OPTIC NERVE. (18170279)
1946
30
Coloboma of the Optic Nerve in the Human Embryo. (16693203)
1939
31
COLOBOMA OF THE OPTIC NERVE WITH REMAINS OF THE HYALOID ARTERY. (18168808)
1929
32
Bilateral Coloboma of the Optic Nerve Associated with Holes in the Disc and a Cyst of the Optic Sheath. (16692831)
1929
33
Coloboma of Optic Nerve (? Traumatic). (19982510)
1922

Genetic Variations for Coloboma of Optic Nerve

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Expression for genes affiliated with Coloboma of Optic Nerve

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1BioGPS, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet