COLON
MCID: CLB003
MIFTS: 42

Coloboma of Optic Nerve (COLON)

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

Aliases & Classifications for Coloboma of Optic Nerve

MalaCards integrated aliases for Coloboma of Optic Nerve:

Name: Coloboma of Optic Nerve 56 12 74 52 73 13 43 15
Coloboma of Optic Disc 12 58 29 6 39 71
Morning Glory Disc Anomaly 56 52 58 71
Morning Glory Syndrome 12 52 58
Ectasic Coloboma 52 58
Optic Nerve Head Pits, Bilateral Congenital 52
Congenital Coloboma of the Optic Nerve 52
Coloboma of Optic Papilla 58
Optic Nerve Coloboma 52
Volubilis Syndrome 52
Colon 73

Characteristics:

Orphanet epidemiological data:

58
morning glory disc anomaly
Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant
? same as 120200


HPO:

31
coloboma of optic nerve:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:11975
OMIM 56 120430
ICD9CM 34 377.23
SNOMED-CT 67 44295002
ICD10 32 Q14.2
ICD10 via Orphanet 33 Q14.2
UMLS via Orphanet 72 C0549307
UMLS 71 C0155299 C4017663

Summaries for Coloboma of Optic Nerve

NIH Rare Diseases : 52 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.

MalaCards based summary : Coloboma of Optic Nerve, also known as coloboma of optic disc, is related to papillorenal syndrome and persistent hyperplastic primary vitreous. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6). Affiliated tissues include eye, retina and brain, and related phenotypes are abnormality of retinal pigmentation and strabismus

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Coloboma of optic nerve, is a rare defect of the optic nerve that causes moderate to severe visual field... more...

More information 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 top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 papillorenal syndrome 32.7 PAX6 PAX2
2 persistent hyperplastic primary vitreous 30.7 PAX6 PAX2 FZD5
3 pathologic nystagmus 30.5 PAX6 GCNT2 DCDC1
4 microphthalmia 30.4 SALL2 PAX6 PAX2 ABCB6
5 retinal detachment 29.8 RS1 PAX6 PAX2
6 hypopituitarism 29.6 PROKR2 PROK2 PAX6 GNRH1
7 aniridia 1 29.4 PAX6 PAX2 IMMP1L GCNT2 DNAJC24 DCDC1
8 septooptic dysplasia 28.9 PROKR2 PROK2 PAX6 NSMF GNRH1
9 choanal atresia, posterior 28.8 TBX22 TACR3 PROKR2 PROK2 NSMF
10 hypogonadotropic hypogonadism 28.5 TACR3 PROKR2 PROK2 NSMF GNRH1
11 hypogonadism 28.5 TACR3 PROKR2 PROK2 NSMF GNRH1
12 charge syndrome 28.2 TACR3 PROKR2 PROK2 PAX6 PAX2 NSMF
13 kallmann syndrome 27.8 TBX22 TACR3 PROKR2 PROK2 PAX2 NSMF
14 coloboma of macula 26.4 TACR3 SALL2 PROKR2 PROK2 PAX6 PAX2
15 coloboma of optic papilla 12.6
16 cavitary optic disc anomalies 11.6
17 hypomandibular faciocranial dysostosis 11.3
18 congenital disorder of glycosylation, type iq 11.3
19 encephalocele 10.6
20 basal encephalocele 10.6
21 hypertelorism 10.5
22 strabismus 10.5
23 mechanical strabismus 10.5
24 cleft lip 10.5
25 glioma 10.5
26 cleft lip/palate 10.5
27 glial tumor 10.5
28 peripapillary staphyloma 10.5
29 isolated growth hormone deficiency 10.4
30 frontonasal dysplasia 1 10.4
31 moyamoya disease 1 10.4
32 ptosis 10.4
33 monocular esotropia 10.4
34 suppression amblyopia 10.4
35 amblyopia 10.4
36 retinal vascular disease 10.4
37 hemangioma 10.4
38 optic nerve glioma 10.4
39 cerebrovascular disease 10.4
40 refractive error 10.4
41 esotropia 10.4
42 dwarfism 10.4
43 scleral staphyloma 10.3
44 cataract 10.3
45 vesicoureteral reflux 1 10.3
46 pax2-related disorder 10.3
47 acrofrontofacionasal dysostosis 10.2 TBX22 ALX3
48 attention deficit-hyperactivity disorder 10.2
49 marcus gunn phenomenon 10.2
50 corpus callosum, agenesis of 10.2

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

Human phenotypes related to Coloboma of Optic Nerve:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
2 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
3 amblyopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000646
4 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
5 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
6 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
7 optic nerve coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000588

Symptoms via clinical synopsis from OMIM:

56
Eyes:
retinal detachment
bilateral coloboma of optic nerve

Clinical features from OMIM:

120430

MGI Mouse Phenotypes related to Coloboma of Optic Nerve:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.8 ALX3 FZD5 GNRH1 NSMF OFD1 PAX6
2 endocrine/exocrine gland MP:0005379 9.76 ALX3 FZD5 GNRH1 NSMF PAX2 PAX6
3 nervous system MP:0003631 9.73 ALX3 FZD5 GNRH1 NSMF OFD1 PAX2
4 reproductive system MP:0005389 9.28 ALX3 FZD5 GNRH1 NSMF PAX2 PAX6

Drugs & Therapeutics for Coloboma of Optic Nerve

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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:

# Genetic test Affiliating Genes
1 Coloboma of Optic Disc 29 PAX6

Anatomical Context for Coloboma of Optic Nerve

MalaCards organs/tissues related to Coloboma of Optic Nerve:

40
Eye, Retina, Brain, Colon, Kidney

Publications for Coloboma of Optic Nerve

Articles related to Coloboma of Optic Nerve:

(show all 13)
# Title Authors PMID Year
1
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 6 56
12721955 2003
2
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. 56
10711890 2000
3
Bilateral congenital optic nerve head pits in monozygotic siblings. 56
9402835 1997
4
Optic nerve colobomas of autosomal-dominant heredity. 56
945057 1976
5
[Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation]. 61
28173652 2017
6
[Goldenhar's syndrome--case report]. 61
22783743 2012
7
Refractory seizures with global developmental delay: A rare cause. 61
22345997 2011
8
[A case of coloboma of optic nerve in newborn]. 61
21624292 2011
9
Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. 61
6548623 1984
10
Coloboma of optic nerve with overlay of peripapillary retina. 61
666981 1978
11
[Coloboma of optic nerve with polycystic kidneys]. 61
13622019 1958
12
Coloboma of optic nerve. 61
20288287 1947
13
Coloboma of Optic Nerve (? Traumatic). 61
19982510 1922

Variations for Coloboma of Optic Nerve

ClinVar genetic disease variations for Coloboma of Optic Nerve:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_019040.5(ELP4):c.*6412_*6418deldeletion Pathogenic 638055 11:31811484-31811490 11:31789936-31789942
2 PAX6 NM_001310160.1(PAX6):c.-538C>TSNV Pathogenic 3475 rs121907923 11:31823264-31823264 11:31801716-31801716
3 PAX6 NM_000280.4(PAX6):c.773T>C (p.Phe258Ser)SNV Pathogenic 3477 rs121907925 11:31815343-31815343 11:31793795-31793795
4 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
5 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
6 DHX37 NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly)SNV Likely pathogenic 691929 12:125455894-125455894 12:124971348-124971348
7 46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dncomplex Uncertain significance 267835

UniProtKB/Swiss-Prot genetic disease variations for Coloboma of Optic Nerve:

73
# Symbol AA change Variation ID SNP ID
1 PAX6 p.Phe258Ser VAR_017542 rs121907925

Expression for Coloboma of Optic Nerve

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

Pathways for Coloboma of Optic Nerve

GO Terms for Coloboma of Optic Nerve

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

# Name GO ID Score Top Affiliating Genes
1 perikaryon GO:0043204 8.8 NSMF GNRH1 FZD5

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.23 TBX22 RS1 PAX6 PAX2 GNRH1 GCNT2
2 cell fate determination GO:0001709 9.16 PAX6 PAX2
3 embryonic camera-type eye morphogenesis GO:0048596 8.96 PAX6 FZD5

Sources for Coloboma of Optic Nerve

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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