COAD
MCID: CLB034
MIFTS: 49

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 56 73
Coloboma, Ocular 56 74 13 39
Coloboma of Iris, Choroid, and Retina 56 73
Ocular Coloboma 73 36
Coi 56 73
Coloboma of Iris, Choroid, and Retina; Coi 56
Chronic Obstructive Airway Disease 71
Coloboma of Choroid and Retina 58
Coloboma, Uveoretinal 56
Uveoretinal Coloboma 73
Coloboma of Iris 58
Coad 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
coloboma, ocular, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 120200
KEGG 36 H01114
MeSH 43 D003103
ICD10 via Orphanet 33 Q13.0 Q14.8
UMLS via Orphanet 72 C0266551
MedGen 41 C0009363
UMLS 71 C0024117

Summaries for Coloboma, Ocular, Autosomal Dominant

OMIM : 56 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 Acetazolamide and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and lung, and related phenotypes are nystagmus and corneal opacity

KEGG : 36 Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Paired box gene 6 (PAX6), a member of the paired box family of transcription factors, has been identified as a key regulator of eye development. Currently around 500 mutations of PAX6 have been reported. And most PAX6 nonsense mutations lead to aniridia, while missense mutations are related to foveal hypoplasia, congenital cataracts, or anterior segment anomalies. Recently, it has been reported that mutation of SALL2 causes recessive ocular coloboma.

UniProtKB/Swiss-Prot : 73 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 : 74 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 194)
# Related Disease Score Top Affiliating Genes
1 coloboma of iris 34.3 TMEM67 PAX6
2 microphthalmia 30.0 YAP1 TMEM67 SALL2 RBP4 PAX6 ACTG1
3 keratopathy 29.8 PAX6 CYP1B1
4 colobomatous microphthalmia 29.5 RBP4 PAX6 ABCB6
5 hypertelorism 29.4 PAX6 MYH10 ACTG1
6 coloboma of macula 28.3 YAP1 TMEM67 SALL2 RBP4 PAX6 MYH10
7 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.6
8 coloboma, ocular, autosomal recessive 12.6
9 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.5
10 obsolete: ocular coloboma 12.4
11 temtamy syndrome 12.3
12 coach syndrome 12.0
13 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.0
14 oculoauricular syndrome 11.8
15 otodental dysplasia 11.7
16 retinochoroidal coloboma 11.6
17 microphthalmia, isolated, with coloboma 1 11.5
18 microphthalmia, isolated, with coloboma 7 11.5
19 microphthalmia, isolated, with coloboma 9 11.5
20 baraitser-winter syndrome 11.5
21 ritscher-schinzel syndrome 1 11.5
22 congenital disorder of glycosylation, type iq 11.4
23 vagneur triolle ripert syndrome 11.4
24 renpenning syndrome 1 11.3
25 hemifacial spasm, familial 11.3
26 focal dermal hypoplasia 11.2
27 microphthalmia, syndromic 9 11.2
28 microphthalmia, isolated, with coloboma 3 11.2
29 microphthalmia, isolated, with coloboma 5 11.2
30 fontaine progeroid syndrome 11.2
31 microphthalmia, isolated, with coloboma 6 11.2
32 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 11.2
33 microphthalmia, isolated, with coloboma 10 11.2
34 ritscher-schinzel syndrome 11.2
35 bronchitis 10.3
36 branchiootic syndrome 1 10.3
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
38 pulmonary disease, chronic obstructive 10.3
39 peripheral vascular disease 10.3
40 cerebral palsy 10.3
41 anterior segment dysgenesis 5 10.3 PAX6 CYP1B1
42 anterior segment dysgenesis 10.2 PAX6 CYP1B1
43 hydrophthalmos 10.2 PAX6 CYP1B1
44 microphthalmia, isolated 2 10.2 PAX6 CYP1B1
45 cataract 10.2
46 juvenile glaucoma 10.2 PAX6 CYP1B1
47 nonsyndromic hearing loss and deafness, mitochondrial 10.2
48 axenfeld-rieger syndrome, type 3 10.2 PAX6 CYP1B1
49 yemenite deaf-blind hypopigmentation syndrome 10.2
50 axenfeld-rieger syndrome 10.2 PAX6 CYP1B1

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 corneal opacity 31 HP:0007957
3 growth delay 31 HP:0001510
4 reduced visual acuity 31 HP:0007663
5 ventriculomegaly 31 HP:0002119
6 chorioretinal coloboma 31 HP:0000567
7 microphthalmia 31 HP:0000568
8 vesicoureteral reflux 31 HP:0000076
9 remnants of the hyaloid vascular system 31 HP:0007968
10 optic nerve coloboma 31 HP:0000588
11 peters anomaly 31 HP:0000659
12 optic nerve aplasia 31 HP:0012521
13 morning glory anomaly 31 HP:0025514

Symptoms via clinical synopsis from OMIM:

56
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.73 ACTG1 FZD5 PAX6 RBP4 TMEM67 YAP1
2 embryo MP:0005380 9.7 ACTG1 FZD5 MYH10 PAX6 SALL2 TMEM67
3 muscle MP:0005369 9.35 ACTG1 MYH10 PAX6 RBP4 YAP1
4 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):

(show top 50) (show all 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Theophylline Approved Phase 4 58-55-9 2153
5
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
6
Budesonide Approved Phase 4 51333-22-3 63006 5281004
7
Propranolol Approved, Investigational Phase 4 525-66-6 4946
8
Nortriptyline Approved Phase 4 72-69-5 4543
9
Ergotamine Approved Phase 4 113-15-5 8223
10
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
11
Sodium citrate Approved, Investigational Phase 4 68-04-2
12
Nitric Oxide Approved Phase 4 10102-43-9 145068
13
Histamine Approved, Investigational Phase 4 51-45-6 774
14
Sucralfate Approved Phase 4 54182-58-0
15
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
16
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
17
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
18 Adrenergic Agonists Phase 4
19 Anti-Asthmatic Agents Phase 4
20 Neurotransmitter Agents Phase 4
21 Adrenergic beta-Agonists Phase 4
22 Formoterol Fumarate Phase 4
23 Autonomic Agents Phase 4
24 Respiratory System Agents Phase 4
25 Bronchodilator Agents Phase 4
26 Anticonvulsants Phase 4
27 Bromides Phase 4
28 Adrenergic Agents Phase 4
29 Adjuvants, Anesthesia Phase 4
30 Muscarinic Antagonists Phase 4
31 Anesthetics Phase 4
32
Glycopyrrolate Phase 4 596-51-0 3494
33 Natriuretic Agents Phase 4
34 Carbonic Anhydrase Inhibitors Phase 4
35 diuretics Phase 4
36 Tocolytic Agents Phase 4
37 Albuterol Phase 4
38 Antiemetics Phase 4
39 HIV Protease Inhibitors Phase 4
40 Gastrointestinal Agents Phase 4
41
protease inhibitors Phase 4
42 BB 1101 Phase 4
43 Hormone Antagonists Phase 4
44 Anti-Inflammatory Agents Phase 4
45 Antineoplastic Agents, Hormonal Phase 4
46 glucocorticoids Phase 4
47 Hormones Phase 4
48 Calamus Phase 4
49
Salmeterol xinafoate Phase 4 94749-08-3 56801
50 Vasodilator Agents Phase 4

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Acetazolamide for Prevention of Altitude Related Illness in Patients With Chronic Obstructive Pulmonary Disease (COPD). Randomized, Placebo-Controlled, Double-Blind Trial. Completed NCT03156231 Phase 4 ACETAZOLAMIDE oral capsule;Placebo oral capsule
2 A Randomized, Double-blind, Parallel Group, 26-week Study Evaluating the Efficacy, Safety and Tolerability of NVA237 Given Once or Twice Daily, in Patients With Moderate and Severe Chronic Obstructive Pulmonary Disease Completed NCT02371629 Phase 4 NVA237;Placebo;Salbutamol
3 Dexamethasone for Prophylaxis of Sleep Related Breathing Disturbances in Patients With Chronic Obstructive Pulmonary Disease (COPD) Travelling to Altitude Completed NCT02450994 Phase 4 Dexamethasone;Placebo
4 Dexamethasone for Prophylaxis of Acute Mountain Sickness in Patients With Chronic Obstructive Pulmonary Disease Travelling to Altitude Completed NCT02450968 Phase 4 Dexamethasone;Placebo
5 Patients With Chronic Obstructive Pulmonary Disease Staying at Altitude - Effect of Nocturnal Oxygen Therapy on Breathing and Sleep in Completed NCT02150590 Phase 4 Oxygen;sham oxygen (room air)
6 Patients With Chronic Obstructive Pulmonary Disease at Altitude - Effect of Nocturnal Oxygen Therapy on Exercise Performance Completed NCT02143609 Phase 4 oxygen;sham oxygen (room air)
7 A 1-year Multi-center, Prospective, Cohort Study in Patients With Chronic Obstructive Pulmonary Disease Treated With Long-acting Bronchodilator Completed NCT01794780 Phase 4 LABA based treatment: indacaterol;LAMA based treatment: tiotropium;LABA/ICS based treatment: salmeterol/fluticasone;LABA/ICS based treatment: budesonide/formoterol;theophylline based treatment;Other treatment
8 Cupping Therapy and SERKANGABIN Versus Conventional Treatment of Migraine Headache: a Randomized Controlled Trial Completed NCT01476930 Phase 4 conventional migraine drug treatment
9 Effect of Prolonged Decubitus on Bronchial Inflammation in COPD Patients Evaluated by Expired NO Concentration Assessment Completed NCT01555593 Phase 4
10 The Effect of Supplemental Oxygen During Physical Exercise Training on Exercise Capacity in COPD Patients. Completed NCT01150383 Phase 4
11 A Clinico-Bacteriological Study and Effect of Stress Ulcer Prophylaxis on Occurrence of Ventilator Associated Pneumonia: a Randomized Prospective Study Completed NCT00702871 Phase 4 Ranitidine;Sucralfate
12 Efficacy of Nebulized Heparin and Salbutamol in Mechanically Ventilated Patients With Acute Exacerbation Chronic Obstructive Pulmonary Disease: a Randomized Clinical Trial Completed NCT03333395 Phase 4 Nebulized heparin and salbutamol;Nebulized salbutamol
13 The Effect of Twice Daily Aclidinium Bromide/Formoterol Fumarate 340/12 mcg vs. Once Daily Tiotropium 'Respimat' 5mcg on Static and Dynamic Hyperinflation in Patients With COPD During 24 Hours Recruiting NCT03275116 Phase 4 Tiotropium 'Respimat' 5 mcg;Aclidinium Bromide/Formoterol Fumarate 340/12 mcg
14 Non Invasive Ventilation in Acute Asthma Unknown status NCT00510991 Phase 3
15 A Long-Term, Randomized, Study of the Safety and Tolerability of a Fixed-Dose Combination of Aclidinium Bromide/Formoterol Fumarate Compared With Formoterol Fumarate in Patients With Moderate to Severe, Stable Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01437540 Phase 3 Aclidinium Bromide/Formoterol Fumarate;Formoterol Fumarate
16 A 12-week Multi-center, Randomized, Double-blind, Placebo Controlled Study to Assess the Efficacy and Safety of NVA237 in Stable COPD Patients Completed NCT01709864 Phase 3 NVA237;Placebo
17 A Phase III, Randomized, Double-blind, Placebo-Controlled Study Evaluating the Efficacy, Safety, and Tolerability of Two Fixed Dose Combinations of Aclidinium Bromide/Formoterol Fumarate Compared With Aclidinium Bromide, Formoterol Fumarate and Placebo for 24- Weeks Treatment in Patients With Moderate to Severe, Stable Chronic Obstructive Pulmonary Disease (COPD). Completed NCT01437397 Phase 3 Aclidinium Bromide/Formoterol Fumarate;Aclidinium Bromide/Formoterol Fumarate;Aclidinium Bromide;Formoterol Fumarate;Placebo
18 A Long-Term, Randomized, Double-Blind Study of the Safety, Tolerability and Efficacy of Aclidinium Bromide At Two Dosage Levels When Administered to Patients With Moderate to Severe, Stable Chronic Obstructive Pulmonary Disease Completed NCT01044459 Phase 3 Aclidinium Bromide 200 µg;Aclidinium Bromide 400 µg
19 Efficacy and Safety of Aclidinium Bromide at Two Dose Levels (200 μg Twice Daily, 400 μg Twice Daily) vs. Placebo When Administered to Patients With Moderate to Severe Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00891462 Phase 3 Aclidinium bromide;Aclidinium bromide;Placebo
20 A Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Efficacy, Safety, and Tolerability of 2 Doses of Aclidinium Bromide Compared With Placebo for 12 Weeks in Patients With Moderate to Severe, Stable Chronic Obstructive Pulmonary Disease Followed by a 40-Week Evaluation of the Higher Aclidinium Bromide Dose Completed NCT01045161 Phase 3 Aclidinium bromide;Placebo
21 A 12-week Multi-center, Randomized, Double-blind, Placebo Controlled Study to Assess the Efficacy and Safety of NVA237 in Stable COPD Patients Completed NCT01715298 Phase 3 NVA237;Placebo
22 A Long-term, Randomized, Double-blind Extension Study of the Safety, Tolerability, and Efficacy of Aclidinium Bromide at Two Dose Levels When Administered to Patients With Moderate to Severe Chronic Obstructive Pulmonary Disease Completed NCT00970268 Phase 3 Aclidinium bromide;Aclidinium bromide
23 A Phase III, Long-term, Randomized, Double-blind, Extension Study of the Efficacy, Safety, and Tolerability of Two Fixed Dose Combinations of Aclidinium Bromide/Formoterol Fumarate, Aclidinium Bromide, Formoterol Fumarate and Placebo for 28- Weeks Treatment in Patients With Moderate to Severe, Stable Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01572792 Phase 3 Aclidinium bromide/formoterol Fixed-Dose Combination (FDC);Aclidinium bromide/formoterol Fixed-Dose Combination (FDC);Aclidinium bromide;Formoterol Fumarate;Placebo
24 A Pilot Randomised Controlled Trial of Withdrawal of Non-invasive Ventilation in COPD Patients With Acute Hypercapnic Respiratory Failure Completed NCT01523470 Phase 3
25 RETHINC: REdefining THerapy In Early COPD for the Pulmonary Trials Cooperative Recruiting NCT02867761 Phase 3 Indacaterol/Glycopyrrolate;Placebo
26 Phase II Dose-Ranging Study of the Efficacy and Safety of Oglemilast in Patients With COPD Completed NCT00671073 Phase 2 Oglemilast;Placebo;Oglemilast;Oglemilast
27 A Phase 2a, Randomized, Open-Label, 2-Way Crossover Study To Determine The Pharmacokinetics, Safety, And Tolerability Of Aclidinium/Formoterol 400/12 µg Fixed Dose Combination Via Almirall Inhaler And Formoterol 12 µg Via Foradil® Aerolizer® In Patients With Moderate To Severe Chronic Obstructive Pulmonary Disease Completed NCT01551888 Phase 2 Aclidinium/formoterol 400/12μg;Formoterol
28 Efficacy and Safety Study of Two Fixed-Dose Combinations of Aclidinium Bromide With Formoterol Fumarate Compared With Aclidinium Bromide, Formoterol Fumarate, and Placebo All Administered Twice Daily (BID) to Patients With Stable, Moderate to Severe Chronic Obstructive Pulmonary Disease (COPD) Completed NCT01049360 Phase 2 Aclidinium 400 μg / Formoterol 12 μg;Aclidinium 400 μg / Formoterol 6 μg;Aclidinium 400 μg;Formoterol 12 μg;Placebo
29 A Phase II, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of PROCHYMAL™ (ex Vivo Cultured Adult Human Mesenchymal Stem Cells) Intravenous Infusion for the Treatment of Subjects With Moderate to Severe Chronic Obstructive Pulmonary Disease (COPD) Completed NCT00683722 Phase 2 PROCHYMAL™;Placebo
30 A Randomized, Double-Blind, Active-Controlled, Parallel-Group, Multicenter, 4-Week Pilot Study to Assess Symptoms in Stable, Moderate to Severe COPD Patients Taking Aclidinium Bromide 200 mcg Once Daily in Combination With Formoterol Fumarate Once or Twice Daily Versus Formoterol Fumarate Twice Daily Terminated NCT00706914 Phase 2 Once-daily aclidinium/formoterol;Twice-daily formoterol fumarate;Placebo to formoterol fumarate;Once-daily formoterol fumarate
31 Comparison of Effects of Bi-level Positive Airway Pressure Therapy and Nocturnal Oxygen Therapy on Right and Left Ventricular Hemodynamics in Overlap Syndrome (Co-existent Chronic Obstructive Airway Disease and Obstructive Sleep Apnea) Withdrawn NCT01261377 Phase 1, Phase 2 Oxygen
32 The Roles of Age, Comorbidity, and Telomere Length in Lung Cancer Treatment and Prognosis Unknown status NCT01963533
33 Effects of Inspiratory and Respiratory Pressure Threshold Training in Patients With Chronic Obstructive Pulmonary Disease Unknown status NCT02326181
34 A Controlled Randomized Trial Comparing Spinal Versus General Anesthesia for Elective Laparoscopic Cholecystectomy in Fit Patients Unknown status NCT00492453
35 Effect of Altitude on Exercise Performance of Patients With Chronic Obstructive Lung Disease Completed NCT01875133
36 Continuous Versus Interval Walking Training in Patients With Severe Chronic Obstructive Pulmonary Disease - a Pilot Study Completed NCT02209207
37 Evaluation of Finger Wearable Device to Monitor Heart Rate Variability and Oxygen Saturation in Older People Completed NCT03268538
38 Prospective, Single-centre, Open-label Clinical Study to Investigate the Safety and Performance of the NeuRx Diaphragm Pacing System (DPS) in Patients Undergoing Bilateral Lung Transplantation Completed NCT02411383
39 Pulmonary Disease in a Psychiatric Inpatient Population, a Screening Study Completed NCT01823627
40 A Pilot Study to Examine the Effect of Acute Exercise on Neutrophil Function in Patients With Chronic Obstructive Pulmonary Disease Completed NCT02124343
41 The Continuous Positive Airway Pressure Effects on Chronic Obstructive Pulmonary Disease Patients With Obstructive Sleep Apnea Completed NCT00914264
42 Clinical Evaluation of e- Ab Sensor - Based Real-time Diagnosis of Serum Procalcitonin Level Completed NCT01388114
43 Cough Responses to Tussive Agents in Health and Disease Completed NCT01297790
44 Effects of a Novel Purifying Device (PureNight) on Sleep Quality in Chronic Obstructive Pulmonary Disease Completed NCT01772342
45 Planetary Habitat Simulation: The Combined Effects of Bed Rest and Normobaric Hypoxia Upon Bone and Mineral Metabolism (WP3) Completed NCT02637921
46 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
47 Czech Multicentre Research Database of Chronic Obstructive Pulmonary Disease (COPD): Registry of the Czech Pneumological Society (CPPS) at the Czech Medical Association (CzMA) Active, not recruiting NCT01923051
48 Regulation of the Release of Inflammatory Mediators From Blood Leukocytes: A Comparison of Healthy Subjects, Healthy Smokers and Patients With COPD. Withdrawn NCT00180765

Search NIH Clinical Center for Coloboma, Ocular, Autosomal Dominant

Inferred drug relations via UMLS 71 / NDF-RT 50 :


indacaterol
olodaterol
Olodaterol hydrochloride

Genetic Tests for Coloboma, Ocular, Autosomal Dominant

Anatomical Context for Coloboma, Ocular, Autosomal Dominant

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

40
Retina, Eye, Lung, Heart, Bone, Testes, Neutrophil

Publications for Coloboma, Ocular, Autosomal Dominant

Articles related to Coloboma, Ocular, Autosomal Dominant:

(show all 17)
# Title Authors PMID Year
1
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 56 6
12721955 2003
2
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 56
24412933 2014
3
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. 6
24462371 2014
4
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 56
19864492 2010
5
GDF6, a novel locus for a spectrum of ocular developmental anomalies. 56
17236135 2007
6
Eye and neural defects associated with loss of GDF6. 56
17010201 2006
7
Ocular coloboma: a reassessment in the age of molecular neuroscience. 56
15591273 2004
8
An iris coloboma preventing pigmentary glaucoma. 56
12860819 2003
9
Iris coloboma with iris heterochromia: a common association. 56
11074823 2000
10
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. 56
10711890 2000
11
Two female siblings with a previously unreported MCA/MR syndrome: pre- and postnatal growth retardation, iris colobomata, spasticity, facial dysmorphism and dilated ventricles. 56
10546098 1999
12
Congenital eye malformations in 212,479 consecutive births. 56
9259960 1997
13
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? 56
8556825 1995
14
Possible autosomal-recessive ocular coloboma. 56
7282780 1981
15
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome. 61
22361651 2012
16
Ocular manifestations in Wolf-Hirschhorn syndrome. 61
19541266 2009
17
Visual outcome after surgical removal of choroidal neovascularization in pediatric patients. 61
11030819 2000

Variations for Coloboma, Ocular, Autosomal Dominant

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

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP1B1 NM_000104.3(CYP1B1):c.868dup (p.Arg290fs)duplication Pathogenic 68468 rs587778875 2:38301663-38301664 2:38074520-38074521
2 YAP1 NM_001130145.3(YAP1):c.370C>T (p.Arg124Ter)SNV Pathogenic 120326 rs587777249 11:101984923-101984923 11:102114192-102114192
3 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
4 MYH10 NM_001256012.2(MYH10):c.4505G>C (p.Arg1502Pro)SNV Pathogenic 625873 17:8395781-8395781 17:8492463-8492463
5 RBP4 NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn)SNV Pathogenic 430902 rs1329285216 10:95353754-95353754 10:93593997-93593997
6 PAX6 NM_000280.4(PAX6):c.773T>C (p.Phe258Ser)SNV Pathogenic 3477 rs121907925 11:31815343-31815343 11:31793795-31793795
7 TMEM67 NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
8 TMEM67 NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
9 FIBP NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)SNV Pathogenic/Likely pathogenic 189359 rs786204849 11:65652652-65652652 11:65885181-65885181
10 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
11 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
12 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)SNV Likely pathogenic 633617 10:1126376-1126376 10:1080436-1080436
13 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)SNV Likely pathogenic 633616 10:1126406-1126406 10:1080466-1080466
14 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)SNV Likely pathogenic 633618 10:1126409-1126409 10:1080469-1080469
15 CDON NM_016952.4(CDON):c.622C>T (p.Arg208Ter)SNV Likely pathogenic 637955 11:125888243-125888243 11:126018348-126018348
16 CYP1B1 NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His)SNV Conflicting interpretations of pathogenicity 7739 rs79204362 2:38298394-38298394 2:38071251-38071251
17 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn)SNV Conflicting interpretations of pathogenicity 7744 rs9282671 2:38302291-38302291 2:38075148-38075148
18 CYP1B1 NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys)SNV Conflicting interpretations of pathogenicity, other 68467 rs57865060 2:38301847-38301847 2:38074704-38074704
19 CDK5RAP2 NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln)SNV Uncertain significance 374241 rs749612238 9:123234112-123234112 9:120471834-120471834
20 BFSP1 NM_001195.5(BFSP1):c.776G>C (p.Cys259Ser)SNV Uncertain significance 68471 rs557601555 20:17479645-17479645 20:17499000-17499000
21 SLC16A12 NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)SNV Uncertain significance 68476 rs150800688 10:91198917-91198917 10:89439160-89439160
22 BFSP1 NM_001195.5(BFSP1):c.1995_1996del (p.Ter666LysextTer?)deletion Benign 68470 rs548358901 20:17474721-17474722 20:17494076-17494077

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

73
# Symbol AA change Variation ID SNP ID
1 PAX6 p.Phe258Ser VAR_017542 rs121907925

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

7
# CNVD ID Chromosome 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 YAP1 PAX6 FZD5
2 10.99 YAP1 FZD5 ACTG1

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 brain development GO:0007420 9.54 PAX6 MYH10 ABCB6
2 keratinocyte differentiation GO:0030216 9.46 YAP1 PAX6
3 platelet aggregation GO:0070527 9.43 FIBP ACTG1
4 visual perception GO:0007601 9.43 RBP4 PAX6 CYP1B1
5 retinol metabolic process GO:0042572 9.4 RBP4 CYP1B1
6 regulation of neurogenesis GO:0050767 9.32 YAP1 PAX6
7 postsynaptic actin cytoskeleton organization GO:0098974 9.16 MYH10 ACTG1
8 embryonic camera-type eye morphogenesis GO:0048596 8.96 PAX6 FZD5
9 eye development GO:0001654 8.8 SALL2 RBP4 PAX6

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 PAX6 FZD5 ACTG1

Sources for Coloboma, Ocular, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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