Coloboma, Ocular

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

Aliases & Classifications for Coloboma, Ocular

MalaCards integrated aliases for Coloboma, Ocular:

Name: Coloboma, Ocular 54 13
Coloboma of Iris, Choroid, and Retina 71
Coloboma, Ocular, Autosomal Dominant 71
Chronic Obstructive Airway Disease 69
Coloboma of Choroid and Retina 56
Uveoretinal Coloboma 71
Coloboma of Iris 56
Ocular Coloboma 71
Coad 71
Coi 71



autosomal dominant


coloboma, ocular:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 54 120200
ICD10 via Orphanet 34 Q14.8 Q13.0
UMLS via Orphanet 70 C0266551
MedGen 40 C0009363
MeSH 42 D003103
SNOMED-CT via HPO 65 263681008

Summaries for Coloboma, Ocular

OMIM : 54
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). (120200)

MalaCards based summary : Coloboma, Ocular, also known as coloboma of iris, choroid, and retina, is related to corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia and coloboma of iris, and has symptoms including irido-fundal coloboma, iris coloboma and angina pectoris. An important gene associated with Coloboma, Ocular is PAX6 (Paired Box 6), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Hippo signaling pathway. The drugs Ophthalmic Solutions and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are embryo and mortality/aging

UniProtKB/Swiss-Prot : 71 Coloboma, ocular, autosomal dominant: A set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.

Related Diseases for Coloboma, Ocular

Graphical network of the top 20 diseases related to Coloboma, Ocular:

Diseases related to Coloboma, Ocular

Symptoms & Phenotypes for Coloboma, Ocular

Symptoms via clinical synopsis from OMIM:


coloboma of iris, choroid and retina

Clinical features from OMIM:


Human phenotypes related to Coloboma, Ocular:

id Description HPO Frequency HPO Source Accession
1 irido-fundal coloboma 32 HP:0007748
2 iris coloboma 32 hallmark (90%) HP:0000612

UMLS symptoms related to Coloboma, Ocular:

angina pectoris, coughing, snoring, tremor, equilibration disorder

MGI Mouse Phenotypes related to Coloboma, Ocular:

id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 FZD5 PAX6 SALL2 YAP1
2 mortality/aging MP:0010768 9.02 ABCB6 FZD5 PAX6 SALL2 YAP1

Drugs & Therapeutics for Coloboma, Ocular

Drugs for Coloboma, Ocular (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 1
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:

id Name Status NCT ID Phase Drugs
1 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1
2 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
3 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
4 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
5 Genetics of Uveal Coloboma Recruiting NCT01778543
6 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
7 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
8 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463
9 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
10 Family Studies of Uveal Coloboma Terminated NCT00368004

Search NIH Clinical Center for Coloboma, Ocular

Genetic Tests for Coloboma, Ocular

Anatomical Context for Coloboma, Ocular

MalaCards organs/tissues related to Coloboma, Ocular:

Retina, Eye, Testes

Publications for Coloboma, Ocular

Variations for Coloboma, Ocular

UniProtKB/Swiss-Prot genetic disease variations for Coloboma, Ocular:

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

ClinVar genetic disease variations for Coloboma, Ocular:

id Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
2 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
3 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181

Copy number variations for Coloboma, Ocular from CNVD:

id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 81042 14 100400000 106368585 Deletion Ocular coloboma

Expression for Coloboma, Ocular

Search GEO for disease gene expression data for Coloboma, Ocular.

Pathways for Coloboma, Ocular

Pathways related to Coloboma, Ocular according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.63 FZD5 YAP1
2 11.51 FZD5 YAP1
3 11.42 FZD5 PAX6
4 11.3 FZD5 PAX6
Show member pathways
11.28 FZD5 PAX6 YAP1
6 10.75 FZD5 PAX6

GO Terms for Coloboma, Ocular

Biological processes related to Coloboma, Ocular according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 eye development GO:0001654 9.16 PAX6 SALL2
2 regulation of neurogenesis GO:0050767 8.96 PAX6 YAP1
3 embryonic camera-type eye morphogenesis GO:0048596 8.62 FZD5 PAX6

Molecular functions related to Coloboma, Ocular according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 8.8 PAX6 SALL2 YAP1
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 8.65 PAX6

Sources for Coloboma, Ocular

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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