COAD
MCID: CLB034
MIFTS: 45

Coloboma, Ocular, Autosomal Dominant (COAD)

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

Aliases & Classifications for Coloboma, Ocular, Autosomal Dominant

MalaCards integrated aliases for Coloboma, Ocular, Autosomal Dominant:

Name: Coloboma, Ocular, Autosomal Dominant 57 75
Coloboma, Ocular 57 76 13 40
Coloboma of Iris, Choroid, and Retina 57 75
Coi 57 75
Coloboma of Iris, Choroid, and Retina; Coi 57
Chronic Obstructive Airway Disease 73
Coloboma of Choroid and Retina 59
Coloboma, Uveoretinal 57
Uveoretinal Coloboma 75
Coloboma of Iris 59
Ocular Coloboma 75
Coad 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
coloboma, ocular, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coloboma, Ocular, Autosomal Dominant

OMIM : 57 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, Autosomal Dominant, also known as coloboma, ocular, is related to coloboma of iris and coloboma of macula, and has symptoms including angina pectoris, coughing and snoring. An important gene associated with Coloboma, Ocular, Autosomal Dominant is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway 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 vesicoureteral reflux and chorioretinal coloboma

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

Related Diseases for Coloboma, Ocular, Autosomal Dominant

Diseases in the Coloboma, Ocular, Autosomal Dominant family:

Coloboma, Ocular, Autosomal Recessive

Diseases related to Coloboma, Ocular, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 coloboma of iris 33.4 PAX6 TMEM67
2 coloboma of macula 25.3 ABCB6 ACTG1 CYP1B1 FIBP FZD5 PAX6
3 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.3
4 coloboma, ocular, autosomal recessive 12.3
5 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.2
6 temtamy syndrome 11.9
7 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.7
8 retinochoroidal coloboma 11.2
9 congenital disorder of glycosylation, type iq 11.1
10 vagneur triolle ripert syndrome 11.1
11 hemifacial spasm, familial 11.0
12 focal dermal hypoplasia 10.9
13 anterior segment dysgenesis 5 10.4 CYP1B1 PAX6
14 juvenile glaucoma 10.3 CYP1B1 PAX6
15 glaucoma 3, primary congenital, a 10.3 CYP1B1 PAX6
16 axenfeld-rieger syndrome 10.2 CYP1B1 PAX6
17 choroiditis 10.2
18 colobomatous microphthalmia 10.2 ABCB6 RBP4
19 aniridia 1 10.1 CYP1B1 PAX6
20 congenital ptosis 10.1 ACTG1 PAX6
21 anterior segment dysgenesis 10.0 CYP1B1 PAX6
22 asthma 9.9
23 prostate cancer 9.9
24 diabetes and deafness, maternally inherited 9.9
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
26 prostatitis 9.9
27 ischemia 9.9
28 peters-plus syndrome 9.8 CYP1B1 PAX6
29 microphthalmia 9.8 ABCB6 PAX6 RBP4
30 coloboma of eye lens 9.3 ABCB6 FZD5 PAX6 SALL2
31 coloboma of eyelid 9.3 ABCB6 FZD5 PAX6 SALL2
32 coloboma of optic nerve 9.3 ABCB6 FZD5 PAX6 SALL2

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



Diseases related to Coloboma, Ocular, Autosomal Dominant

Symptoms & Phenotypes for Coloboma, Ocular, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Eyes:
coloboma of iris, choroid and retina


Clinical features from OMIM:

120200

Human phenotypes related to Coloboma, Ocular, Autosomal Dominant:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 32 HP:0000076
2 chorioretinal coloboma 32 HP:0000567
3 microphthalmia 32 HP:0000568
4 optic nerve coloboma 32 HP:0000588
5 nystagmus 32 HP:0000639
6 peters anomaly 32 HP:0000659
7 growth delay 32 HP:0001510
8 ventriculomegaly 32 HP:0002119
9 reduced visual acuity 32 HP:0007663
10 corneal opacity 32 HP:0007957
11 remnants of the hyaloid vascular system 32 HP:0007968
12 optic nerve aplasia 32 HP:0012521
13 morning glory anomaly 32 HP:0025514

UMLS symptoms related to Coloboma, Ocular, Autosomal Dominant:


angina pectoris, coughing, snoring, tremor, equilibration disorder

MGI Mouse Phenotypes related to Coloboma, Ocular, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.35 ACTG1 FZD5 PAX6 TMEM67 YAP1
2 embryo MP:0005380 9.02 FZD5 PAX6 SALL2 TMEM67 YAP1

Drugs & Therapeutics for Coloboma, Ocular, Autosomal Dominant

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1
2 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
3 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
4 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
5 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
6 Genetics of Uveal Coloboma Recruiting NCT01778543
7 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025 Not Applicable
8 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463 Not Applicable
9 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
10 Family Studies of Uveal Coloboma Terminated NCT00368004

Search NIH Clinical Center for Coloboma, Ocular, Autosomal Dominant

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Coloboma, Ocular, Autosomal Dominant

Anatomical Context for Coloboma, Ocular, Autosomal Dominant

MalaCards organs/tissues related to Coloboma, Ocular, Autosomal Dominant:

41
Retina, Eye, Testes

Publications for Coloboma, Ocular, Autosomal Dominant

Articles related to Coloboma, Ocular, Autosomal Dominant:

(show all 13)
# Title Authors Year
1
Risk factors for pulmonary tuberculosis in patients with chronic obstructive airway disease in Taiwan: a nationwide cohort study. ( 23631563 )
2013
2
Troponin elevation during exacerbations of chronic obstructive airways disease due to stress cardiomyopathy. ( 22762782 )
2012
3
Telemonitoring in chronic obstructive airway disease and adult patients with cystic fibrosis. ( 21163811 )
2011
4
Interleukin-9 as a possible therapeutic target in both asthma and chronic obstructive airways disease. ( 16491163 )
2005
5
Induced sputum eosinophil cationic protein (ECP) measurement in asthma and chronic obstructive airway disease (COAD) ( 9761011 )
1998
6
Alpha-1 antitrypsin deficiency and chronic obstructive airway disease. ( 11229254 )
1998
7
Frequency of chronic obstructive airways disease and pulmonary hypertension in patients with acute inferior myocardial infarction with or without right ventricular infarction. ( 7960262 )
1994
8
The characterization of a mutation of the 3' flanking sequence of the alpha 1-antitrypsin gene commonly associated with chronic obstructive airways disease. ( 1349285 )
1992
9
Independent mutations in the flanking sequence of the alpha-1-antitrypsin gene are associated with chronic obstructive airways disease. ( 1980238 )
1990
10
Long term follow-up of domiciliary oxygen therapy in hypoxic cor pulmonale associated with chronic obstructive airways disease. ( 3690041 )
1987
11
alpha 1-Antitrypsin phenotypes in cor pulmonale due to chronic obstructive airways disease. ( 317359 )
1979
12
The relative importance of clinical, radiological and pulmonary function variables in evaluating asbestosis and chronic obstructive airway disease in asbestos workers. ( 5131087 )
1971
13
Mucociliary function in health, chronic obstructive airway disease, and asbestosis. ( 5781603 )
1969

Variations for Coloboma, Ocular, Autosomal Dominant

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

75
# Symbol AA change Variation ID SNP ID
1 PAX6 p.Phe258Ser VAR_017542 rs121907925

ClinVar genetic disease variations for Coloboma, Ocular, Autosomal Dominant:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
2 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
3 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
4 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh38 Chromosome 11, 31793795: 31793795
5 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh37 Chromosome 2, 38301664: 38301664
6 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh38 Chromosome 2, 38074521: 38074521
7 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
8 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh37 Chromosome 11, 101984923: 101984923
9 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181
10 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh37 Chromosome 11, 65652652: 65652652
11 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
12 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
13 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh37 Chromosome 9, 123234112: 123234112
14 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh38 Chromosome 9, 120471834: 120471834
15 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 93593997: 93593997
16 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 95353754: 95353754

Expression for Coloboma, Ocular, Autosomal Dominant

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

Pathways for Coloboma, Ocular, Autosomal Dominant

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 FZD5 PAX6 YAP1
2 10.99 ACTG1 FZD5 YAP1
3 10.95 FZD5 PAX6

GO Terms for Coloboma, Ocular, Autosomal Dominant

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

# Name GO ID Score Top Affiliating Genes
1 platelet aggregation GO:0070527 9.4 ACTG1 FIBP
2 regulation of canonical Wnt signaling pathway GO:0060828 9.37 FZD5 YAP1
3 visual perception GO:0007601 9.33 CYP1B1 PAX6 RBP4
4 retinol metabolic process GO:0042572 9.32 CYP1B1 RBP4
5 regulation of neurogenesis GO:0050767 9.26 PAX6 YAP1
6 embryonic camera-type eye morphogenesis GO:0048596 8.96 FZD5 PAX6
7 eye development GO:0001654 8.8 PAX6 RBP4 SALL2

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.13 ACTG1 FZD5 PAX6
2 transcription regulatory region DNA binding GO:0044212 8.8 PAX6 SALL2 YAP1

Sources for Coloboma, Ocular, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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