COAD
MCID: CLB034
MIFTS: 47

Coloboma, Ocular, Autosomal Dominant (COAD)

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

Aliases & Classifications for Coloboma, Ocular, Autosomal Dominant

MalaCards integrated aliases for Coloboma, Ocular, Autosomal Dominant:

Name: Coloboma, Ocular, Autosomal Dominant 58 76
Coloboma, Ocular 58 77 13 41
Coloboma of Iris, Choroid, and Retina 58 76
Coi 58 76
Coloboma of Iris, Choroid, and Retina; Coi 58
Chronic Obstructive Airway Disease 74
Coloboma of Choroid and Retina 60
Coloboma, Uveoretinal 58
Uveoretinal Coloboma 76
Coloboma of Iris 60
Ocular Coloboma 76
Coad 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
coloboma, ocular, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Coloboma, Ocular, Autosomal Dominant

OMIM : 58 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 glaucoma 3, primary congenital, a, and has symptoms including tremor, angina pectoris 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 nystagmus and corneal opacity

UniProtKB/Swiss-Prot : 76 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 : 77 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 top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 coloboma of iris 34.1 PAX6 TMEM67
2 glaucoma 3, primary congenital, a 30.1 CYP1B1 PAX6
3 microphthalmia 30.0 ABCB6 PAX6 RBP4
4 coloboma of macula 28.8 ABCB6 ACTG1 CYP1B1 FIBP FZD5 PAX6
5 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.5
6 coloboma, ocular, autosomal recessive 12.5
7 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.4
8 temtamy syndrome 12.1
9 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.9
10 oculoauricular syndrome 11.7
11 retinochoroidal coloboma 11.4
12 coach syndrome 11.3
13 congenital disorder of glycosylation, type iq 11.3
14 ritscher-schinzel syndrome 1 11.3
15 vagneur triolle ripert syndrome 11.2
16 otodental dysplasia 11.2
17 renpenning syndrome 1 11.2
18 hemifacial spasm, familial 11.2
19 focal dermal hypoplasia 11.1
20 microphthalmia, isolated, with coloboma 1 11.1
21 microphthalmia, syndromic 9 11.1
22 microphthalmia, isolated, with coloboma 3 11.1
23 microphthalmia, isolated, with coloboma 5 11.1
24 fontaine progeroid syndrome 11.1
25 microphthalmia, isolated, with coloboma 6 11.1
26 microphthalmia, isolated, with coloboma 7 11.1
27 microphthalmia, isolated, with coloboma 9 11.1
28 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 11.1
29 microphthalmia, isolated, with coloboma 10 11.1
30 ritscher-schinzel syndrome 11.1
31 cerebral palsy 10.2
32 anterior segment dysgenesis 10.2 CYP1B1 PAX6
33 anterior segment dysgenesis 5 10.2 CYP1B1 PAX6
34 axenfeld-rieger syndrome, type 3 10.2 CYP1B1 PAX6
35 axenfeld-rieger syndrome 10.2 CYP1B1 PAX6
36 juvenile glaucoma 10.1 CYP1B1 PAX6
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
38 rapidly involuting congenital hemangioma 10.1
39 congenital ptosis 10.1 ACTG1 PAX6
40 asthma 10.1
41 bronchitis 10.1
42 colobomatous microphthalmia 10.1 ABCB6 RBP4
43 aniridia 1 10.1 CYP1B1 PAX6
44 pathologic nystagmus 10.0 PAX6 TMEM67
45 myopia 10.0
46 exophthalmos 10.0
47 ring chromosome 3 10.0
48 obsessive-compulsive disorder 10.0
49 prostate cancer 10.0
50 pulmonary alveolar microlithiasis 10.0

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

Human phenotypes related to Coloboma, Ocular, Autosomal Dominant:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 corneal opacity 33 HP:0007957
3 growth delay 33 HP:0001510
4 reduced visual acuity 33 HP:0007663
5 ventriculomegaly 33 HP:0002119
6 chorioretinal coloboma 33 HP:0000567
7 microphthalmia 33 HP:0000568
8 vesicoureteral reflux 33 HP:0000076
9 remnants of the hyaloid vascular system 33 HP:0007968
10 optic nerve coloboma 33 HP:0000588
11 peters anomaly 33 HP:0000659
12 optic nerve aplasia 33 HP:0012521
13 morning glory anomaly 33 HP:0025514

Symptoms via clinical synopsis from OMIM:

58
Eyes:
coloboma of iris, choroid and retina

Clinical features from OMIM:

120200

UMLS symptoms related to Coloboma, Ocular, Autosomal Dominant:


tremor, angina pectoris, snoring, coughing, equilibration disorder

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 ACTG1 FZD5 PAX6 RBP4 TMEM67 YAP1
2 embryo MP:0005380 9.35 FZD5 PAX6 SALL2 TMEM67 YAP1
3 renal/urinary system MP:0005367 9.02 PAX6 RBP4 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 Genetics of Uveal Coloboma Recruiting NCT01778543
4 Family Studies of Uveal Coloboma Terminated NCT00368004
5 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025 Not Applicable
6 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463 Not Applicable
7 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
8 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
9 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
10 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678

Search NIH Clinical Center for Coloboma, Ocular, Autosomal Dominant

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Coloboma, Ocular, Autosomal Dominant

Anatomical Context for Coloboma, Ocular, Autosomal Dominant

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

42
Retina, Eye, Testes

Publications for Coloboma, Ocular, Autosomal Dominant

Articles related to Coloboma, Ocular, Autosomal Dominant:

(show all 11)
# Title Authors Year
1
Frequency of Streptococcus pneumonia and Haemophilus influenza in acute exacerbation of chronic obstructive airway disease and their sensitivity to levofloxacin. ( 24864632 )
2014
2
Risk factors for pulmonary tuberculosis in patients with chronic obstructive airway disease in Taiwan: a nationwide cohort study. ( 23631563 )
2013
3
Telemonitoring in chronic obstructive airway disease and adult patients with cystic fibrosis. ( 21163811 )
2011
4
Induced sputum eosinophil cationic protein (ECP) measurement in asthma and chronic obstructive airway disease (COAD) ( 9761011 )
1998
5
Alpha-1 antitrypsin deficiency and chronic obstructive airway disease. ( 11229254 )
1998
6
Airway pathology of functional significance in chronic bronchitis and chronic obstructive airway disease. ( 2239524 )
1990
7
Inflammatory indices for chronic bronchitis and chronic obstructive airway disease. Cell populations in bronchial and bronchoalveolar lavage. ( 2239529 )
1990
8
Effects of corticosteroids in "chronic bronchitis" and "chronic obstructive airway disease". ( 2239541 )
1990
9
Chronic obstructive airway disease in pneumoconiosis in comparison to chronic obstructive airway disease in non-dust exposed workers. ( 1212548 )
1975
10
The relative importance of clinical, radiological and pulmonary function variables in evaluating asbestosis and chronic obstructive airway disease in asbestos workers. ( 5131087 )
1971
11
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:

76
# 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 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181
2 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh37 Chromosome 11, 65652652: 65652652
3 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
4 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
5 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
6 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
7 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
8 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh38 Chromosome 11, 31793795: 31793795
9 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh37 Chromosome 2, 38298394: 38298394
10 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh38 Chromosome 2, 38071251: 38071251
11 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 GRCh37 Chromosome 2, 38302291: 38302291
12 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 GRCh38 Chromosome 2, 38075148: 38075148
13 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 GRCh37 Chromosome 2, 38301847: 38301847
14 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 GRCh38 Chromosome 2, 38074704: 38074704
15 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh37 Chromosome 2, 38301664: 38301664
16 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh38 Chromosome 2, 38074521: 38074521
17 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh37 Chromosome 20, 17474721: 17474722
18 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh38 Chromosome 20, 17494076: 17494077
19 BFSP1 NM_001161705.1(BFSP1): c.401G> C (p.Cys134Ser) single nucleotide variant Uncertain significance rs557601555 GRCh37 Chromosome 20, 17479645: 17479645
20 BFSP1 NM_001161705.1(BFSP1): c.401G> C (p.Cys134Ser) single nucleotide variant Uncertain significance rs557601555 GRCh38 Chromosome 20, 17499000: 17499000
21 SLC16A12 NM_213606.3(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 GRCh37 Chromosome 10, 91198917: 91198917
22 SLC16A12 NM_213606.3(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 GRCh38 Chromosome 10, 89439160: 89439160
23 YAP1 NM_001130145.3(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
24 YAP1 NM_001130145.3(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh37 Chromosome 11, 101984923: 101984923
25 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh37 Chromosome 9, 123234112: 123234112
26 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh38 Chromosome 9, 120471834: 120471834
27 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 GRCh38 Chromosome 10, 93593997: 93593997
28 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 GRCh37 Chromosome 10, 95353754: 95353754

Copy number variations for Coloboma, Ocular, Autosomal Dominant from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 81042 14 100400000 106368585 Deletion Ocular coloboma

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 keratinocyte differentiation GO:0030216 9.4 PAX6 YAP1
2 platelet aggregation GO:0070527 9.37 ACTG1 FIBP
3 visual perception GO:0007601 9.33 CYP1B1 PAX6 RBP4
4 regulation of neurogenesis GO:0050767 9.32 PAX6 YAP1
5 retinol metabolic process GO:0042572 9.26 CYP1B1 RBP4
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 8.8 ACTG1 FZD5 PAX6

Sources for Coloboma, Ocular, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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