Coloboma, Ocular (COAD) malady

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

Aliases & Classifications for Coloboma, Ocular

Aliases & Descriptions for Coloboma, Ocular:

Name: Coloboma, Ocular 54 13
Coloboma, Ocular, Autosomal Dominant 54 66
Coloboma of Iris, Choroid, and Retina 66
Chronic Obstructive Airway Disease 69
Coloboma of Choroid and Retina 56
Uveoretinal Coloboma 66
Coloboma of Iris 56
Ocular Coloboma 66
Coad 66
Coi 66



coloboma, ocular:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 54 120200
ICD10 via Orphanet 34 Q14.8 Q13.0
MedGen 40 C0009363
MeSH 42 D003103

Summaries for Coloboma, Ocular

OMIM : 54 Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined... (120200) more...

MalaCards based summary : Coloboma, Ocular, also known as coloboma, ocular, autosomal dominant, is related to coloboma of iris and corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, and has symptoms including iris coloboma, irido-fundal coloboma and angina pectoris. An important gene associated with Coloboma, Ocular is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and P38 MAPK Signaling Pathway (sino). The drugs Ophthalmic Solutions and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are embryo and mortality/aging

UniProtKB/Swiss-Prot : 66 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 by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Coloboma, Ocular:

id Description HPO Frequency HPO Source Accession
1 iris coloboma 32 HP:0000612
2 irido-fundal coloboma 32 HP:0007748

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 9.35 FZD5 GDF3 PAX6 SALL2 YAP1
2 mortality/aging MP:0010768 9.1 GDF3 PAX6 SALL2 YAP1 ABCB6 FZD5

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
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 Genetics of Uveal Coloboma Recruiting NCT01778543
5 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
6 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
7 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463
8 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
9 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

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 GDF3 NM_020634.2(GDF3): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs387906945 GRCh37 Chromosome 12, 7842655: 7842655
3 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
4 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
Show member pathways
11.41 FZD5 GDF3 PAX6 YAP1
2 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 keratinocyte differentiation GO:0030216 9.37 PAX6 YAP1
2 regulation of neurogenesis GO:0050767 9.32 PAX6 YAP1
3 regulation of canonical Wnt signaling pathway GO:0060828 9.26 FZD5 YAP1
4 embryonic camera-type eye morphogenesis GO:0048596 9.16 FZD5 PAX6
5 notochord development GO:0030903 8.96 GDF3 YAP1
6 eye development GO:0001654 8.8 GDF3 PAX6 SALL2

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.33 FZD5 GDF3 PAX6
2 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 8.96 PAX6 YAP1
3 transcription regulatory region DNA binding GO:0044212 8.8 PAX6 SALL2 YAP1

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
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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