COLON
MCID: CLB003
MIFTS: 44

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 57 12 73 20 72 29 13 6 44 15
Morning Glory Disc Anomaly 57 20 58 70
Coloboma of Optic Disc 12 58 39 70
Morning Glory Syndrome 12 20 58
Ectasic Coloboma 20 58
Optic Nerve Head Pits, Bilateral Congenital 20
Congenital Coloboma of the Optic Nerve 20
Coloboma of Optic Papilla 58
Optic Nerve Coloboma 20
Volubilis Syndrome 20
Colon 72

Characteristics:

Orphanet epidemiological data:

58
morning glory disc anomaly
Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 120430
ICD9CM 34 377.23
SNOMED-CT 67 44295002
ICD10 32 Q14.2
ICD10 via Orphanet 33 Q14.2
UMLS via Orphanet 71 C0549307
UMLS 70 C0155299 C4017663

Summaries for Coloboma of Optic Nerve

GARD : 20 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 morning glory disc anomaly, is related to persistent hyperplastic primary vitreous and optic nerve disease. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6), and among its related pathways/superpathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include eye, colon and retina, and related phenotypes are abnormality of retinal pigmentation and strabismus

UniProtKB/Swiss-Prot : 72 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 : 73 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 160)
# Related Disease Score Top Affiliating Genes
1 persistent hyperplastic primary vitreous 30.6 PAX6 PAX2 FZD5
2 optic nerve disease 30.3 PAX6 ELP4 DHX37
3 fryns microphthalmia syndrome 30.2 PAX6 HESX1
4 optic nerve hypoplasia, bilateral 30.2 PAX6 PAX2 HESX1 ELP4
5 retinal detachment 30.0 RS1 PAX6 PAX2
6 aniridia 1 29.9 PAX6 PAX2 IMMP1L ELP4 DNAJC24 DCDC1
7 hypopituitarism 29.9 PROKR2 PROK2 HESX1 GNRH1
8 microphthalmia 29.9 SALL2 PAX6 PAX2 HESX1 ELP4 ABCB6
9 charge syndrome 29.6 TACR3 PROKR2 PROK2 PAX2 GNRH1
10 choanal atresia, posterior 29.5 TBX22 TACR3 PROKR2 PROK2 NSMF
11 hypogonadotropic hypogonadism 29.3 TACR3 PROKR2 PROK2 NSMF GNRH1
12 hypogonadism 29.3 TACR3 PROKR2 PROK2 NSMF GNRH1
13 septooptic dysplasia 29.1 PROKR2 PROK2 PAX6 NSMF HESX1 GNRH1
14 renal hypodysplasia/aplasia 1 29.1 TACR3 PROKR2 PROK2 PAX2 NSMF GNRH1
15 coloboma of macula 29.0 TACR3 SALL2 PROKR2 PROK2 PAX6 PAX2
16 kallmann syndrome 28.7 TBX22 TACR3 PROKR2 PROK2 NSMF HESX1
17 papillorenal syndrome 11.7
18 coloboma of optic papilla 11.4
19 cavitary optic disc anomalies 11.4
20 hypomandibular faciocranial dysostosis 11.1
21 congenital disorder of glycosylation, type iq 11.1
22 encephalocele 10.6
23 strabismus 10.6
24 mechanical strabismus 10.6
25 basal encephalocele 10.6
26 hypertelorism 10.5
27 cleft lip 10.5
28 peripapillary staphyloma 10.5
29 monocular esotropia 10.5
30 hemangioma 10.5
31 refractive error 10.5
32 esotropia 10.5
33 glioma 10.5
34 cleft lip/palate 10.5
35 glial tumor 10.5
36 frontonasal dysplasia 1 10.4
37 moyamoya disease 1 10.4
38 ptosis 10.4
39 suppression amblyopia 10.4
40 amblyopia 10.4
41 anisometropia 10.4
42 retinal vascular disease 10.4
43 optic nerve glioma 10.4
44 cerebrovascular disease 10.4
45 pathologic nystagmus 10.4
46 dwarfism 10.3
47 aniridia 2 10.3 PAX6 ELP4
48 hereditary wilms' tumor 10.3 PAX6 ELP4
49 foveal hypoplasia 1 10.3 PAX6 ELP4
50 scleral staphyloma 10.3

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 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
5 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
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®:

57 (Updated 05-Apr-2021)
Eyes:
retinal detachment
bilateral coloboma of optic nerve

Clinical features from OMIM®:

120430 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Coloboma of Optic Nerve:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.4 FZD5 GNRH1 HESX1 NSMF OFD1 PAX2

Drugs & Therapeutics for Coloboma of Optic Nerve

Search Clinical Trials , 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 Nerve (disease) 29

Anatomical Context for Coloboma of Optic Nerve

MalaCards organs/tissues related to Coloboma of Optic Nerve:

40
Eye, Colon, Retina, Myeloid, Pituitary

Publications for Coloboma of Optic Nerve

Articles related to Coloboma of Optic Nerve:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 61 6 57
12721955 2003
2
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. 57
10711890 2000
3
Bilateral congenital optic nerve head pits in monozygotic siblings. 57
9402835 1997
4
Optic nerve colobomas of autosomal-dominant heredity. 57
945057 1976
5
Case of peripheral fibrovascular proliferative retinopathy associated with morning glory disc anomaly. 61
33665476 2021
6
An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome. 61
33599186 2021
7
Clinical characteristics of morning glory disc anomaly in South India. 61
33767956 2021
8
Salt-and-pepper-like retinopathy in a case of morning glory disc anomaly. 61
33504537 2021
9
Morning Glory Disc Anomaly with Contractile Peripapillary Staphyloma in an 18-Month-Old Girl. 61
33762786 2021
10
Morning glory disc anomaly-associated maculopathy: multimodal imaging. 61
33462012 2021
11
Optic Pathways Enlargement on Magnetic Resonance Imaging in Patients with Morning Glory Disc Anomaly. 61
32622846 2021
12
Horizontal Transposition of the Vertical Rectus Muscles to Correct a Head Tilt in 5 Patients With Idiopathic Nystagmus Syndrome. 61
32360860 2020
13
Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome. 61
32756785 2020
14
An unusual association of Morning Glory Syndrome with chronic myeloid leukemia-Philadelphia chromosome. 61
33110885 2020
15
Internal carotid artery origin of the anterior cerebral artery: A rare anatomic intracranial arterial variation in a child with morning glory disc anomaly and moyamoya vascular pattern; case report and review of literature. 61
33033785 2020
16
Reader response: Teaching NeuroImages: Morning glory disc anomaly. 61
32066644 2020
17
Author response: Teaching NeuroImages: Morning glory disc anomaly. 61
32066645 2020
18
Moyamoya Disease Associated With Morning Glory Disc Anomaly and Other Ophthalmic Findings: A Mini-Review. 61
32499749 2020
19
Unilateral morning glory disc anomaly in a patient with prenatal Zika virus exposure. 61
32765899 2020
20
Appearance of pediatric choroidal neovascular membranes on optical coherence tomography angiography. 61
31758259 2020
21
[Congenital abnormalities of the optic disc]. 61
30935696 2019
22
Optic Disc Pulsation in a Morning Glory Disc Anomaly. 61
31174677 2019
23
Persisting Embryonal Infundibular Recess in Morning Glory Syndrome: Clinical Report of a Novel Association. 61
30846438 2019
24
Delayed presentation of morning glory disc anomaly and transsphenoidal encephalocele: A management dilemma. 61
31312233 2019
25
Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408. 61
30998249 2019
26
Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly. 61
31114123 2019
27
Morning Glory Disc Anomaly in a Child with Esotropia. 61
30025671 2018
28
Morning glory disc anomaly and facial hemangiomas in a girl with moyamoya syndrome. 61
30355892 2018
29
Teaching NeuroImages: Morning glory disc anomaly. 61
30297511 2018
30
Craniopharyngeal canal, morning glory disc anomaly and hypopituitarism: what do they have in common? 61
29977576 2018
31
Case Report: Optical Coherence Tomography Angiography in Morning Glory Disc Anomaly. 61
29787489 2018
32
Morning glory disc anomaly and ipsilateral sporadic optic pathway glioma. 61
29780905 2018
33
Morning glory syndrome with Moyamoya disease: A rare association with role of imaging. 61
30050238 2018
34
A Rare Case of Unilateral Morning Glory Disc Anomaly in a Patient with Turner Syndrome: Report and Review of Posterior Segment Associations. 61
30050712 2018
35
Acute retinal detachment induced by the Valsalva manoeuvre in morning glory disc anomaly. 61
29374647 2018
36
Morning Glory Disc Anomaly Associated with Ipsilateral Optic Nerve and Chiasm Thickening: Three Cases and Review of the Literature. 61
28599324 2017
37
Congenital anomalies of the optic disc: insights from optical coherence tomography imaging. 61
28817389 2017
38
Morning glory disc anomaly with an ipsilateral enlargement of the optic nerve pathway. 61
28666648 2017
39
Rare bilateral presentation of morning glory disc anomaly. 61
27571914 2016
40
Morning glory disc anomaly in childhood - a population-based study. 61
26173377 2015
41
Morning Glory Disc Anomaly, A Report of a Successfully Treated Case of Functional Amblyopia. 61
26557552 2015
42
Retinal vein occlusion in retinal racemose hemangioma: a case report and literature review of ocular complications in this rare retinal vascular disorder. 61
25142779 2014
43
Unilateral Morning Glory Disc Anomaly With Ipsilateral Limbal Dermoids. 61
26900707 2014
44
Morning glory disc anomaly with Chiari type I malformation. 61
24802674 2014
45
Morning glory disc anomaly: characteristic MR imaging findings. 61
23660287 2013
46
Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy. 61
23710497 2013
47
Morning glory disc anomaly with contractile movements. 61
22865260 2012
48
Morning glory disc anomaly with peripheral retinal nonperfusion in 4 consecutive cases. 61
23044951 2012
49
Morning glory disc anomaly and optic nerve coloboma. 61
21622684 2012
50
Morning glory disc anomaly in association with ipsilateral optic nerve glioma. 61
22893090 2012

Variations for Coloboma of Optic Nerve

ClinVar genetic disease variations for Coloboma of Optic Nerve:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX6 NM_001310160.1(PAX6):c.-538C>T SNV Pathogenic 3475 rs121907923 GRCh37: 11:31823264-31823264
GRCh38: 11:31801716-31801716
2 PAX6 NM_000280.4(PAX6):c.773T>C (p.Phe258Ser) SNV Pathogenic 3477 rs121907925 GRCh37: 11:31815343-31815343
GRCh38: 11:31793795-31793795
3 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
4 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
5 ELP4 , PAX6 NM_019040.5(ELP4):c.*6412_*6418del Deletion Pathogenic 638055 rs757946805 GRCh37: 11:31811484-31811490
GRCh38: 11:31789936-31789942
6 ELP4 , PAX6 NM_001368894.2(PAX6):c.*19_*21del (p.Ter437=) Deletion Pathogenic 1034148 GRCh37: 11:31811461-31811463
GRCh38: 11:31789913-31789915
7 DHX37 NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) SNV Likely pathogenic 691929 rs1424699115 GRCh37: 12:125455894-125455894
GRCh38: 12:124971348-124971348
8 ELP4 , PAX6 NM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys) SNV Uncertain significance 932051 GRCh37: 11:31811492-31811492
GRCh38: 11:31789944-31789944
9 PAX6 NM_001368894.2(PAX6):c.1198A>G (p.Met400Val) SNV Uncertain significance 1034147 GRCh37: 11:31812285-31812285
GRCh38: 11:31790737-31790737

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 11.29 PAX6 HESX1 FZD5
2 10.95 PAX6 HESX1 FZD5

GO Terms for Coloboma of Optic Nerve

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.46 PAX6 HESX1 DHX37 ABCB6
2 cell fate determination GO:0001709 9.32 PAX6 PAX2
3 embryonic camera-type eye morphogenesis GO:0048596 9.26 PAX6 FZD5
4 multicellular organism development GO:0007275 9.17 TBX22 RS1 PAX6 PAX2 HESX1 GNRH1
5 camera-type eye development GO:0043010 9.13 PAX6 PAX2 HESX1

Sources for Coloboma of Optic Nerve

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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