COAD
MCID: CLB034
MIFTS: 50

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 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 microphthalmia, 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 Pharmaceutical Solutions and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and corneal opacity

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 top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 coloboma of iris 34.0 TMEM67 PAX6
2 microphthalmia 30.0 RBP4 PAX6 ABCB6
3 glaucoma 3, primary congenital, a 30.0 PAX6 CYP1B1
4 coloboma of macula 29.9 YAP1 TMEM67 SALL2 RBP4 PAX6 FZD5
5 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.5
6 coloboma, ocular, autosomal recessive 12.4
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 11.8
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 11.1
19 focal dermal hypoplasia 11.1
20 microphthalmia, isolated, with coloboma 1 11.0
21 microphthalmia, syndromic 9 11.0
22 microphthalmia, isolated, with coloboma 3 11.0
23 microphthalmia, isolated, with coloboma 5 11.0
24 fontaine progeroid syndrome 11.0
25 microphthalmia, isolated, with coloboma 6 11.0
26 microphthalmia, isolated, with coloboma 7 11.0
27 microphthalmia, isolated, with coloboma 9 11.0
28 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 11.0
29 microphthalmia, isolated, with coloboma 10 11.0
30 ritscher-schinzel syndrome 11.0
31 cerebral palsy 10.2
32 anterior segment dysgenesis 10.1 PAX6 CYP1B1
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
34 anterior segment dysgenesis 5 10.1 PAX6 CYP1B1
35 axenfeld-rieger syndrome, type 3 10.1 PAX6 CYP1B1
36 axenfeld-rieger syndrome 10.1 PAX6 CYP1B1
37 colobomatous microphthalmia 10.1 RBP4 ABCB6
38 juvenile glaucoma 10.1 PAX6 CYP1B1
39 asthma 10.0
40 bronchitis 10.0
41 congenital ptosis 10.0 PAX6 ACTG1
42 pathologic nystagmus 10.0 TMEM67 PAX6
43 aniridia 1 10.0 PAX6 CYP1B1
44 obsessive-compulsive disorder 10.0
45 prostate cancer 10.0
46 rheumatoid arthritis 10.0
47 pulmonary alveolar microlithiasis 10.0
48 aging 10.0
49 diabetes and deafness, maternally inherited 10.0
50 nonsyndromic deafness 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

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 14)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 corneal opacity 32 HP:0007957
3 growth delay 32 HP:0001510
4 reduced visual acuity 32 HP:0007663
5 ventriculomegaly 32 HP:0002119
6 chorioretinal coloboma 32 HP:0000567
7 microphthalmia 32 HP:0000568
8 vesicoureteral reflux 32 HP:0000076
9 iris coloboma 32 hallmark (90%) HP:0000612
10 optic nerve coloboma 32 HP:0000588
11 peters anomaly 32 HP:0000659
12 optic nerve aplasia 32 HP:0012521
13 remnants of the hyaloid vascular system 32 HP:0007968
14 morning glory anomaly 32 HP:0025514

UMLS symptoms related to Coloboma, Ocular, Autosomal Dominant:


tremor, angina pectoris, snoring, coughing, 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 9.63 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 Pharmaceutical Solutions Phase 1
2 Ophthalmic 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 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, Bone, Lung, Heart, Neutrophil, Prostate

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:

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

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 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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