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 74
Coloboma, Ocular 57 75 13 40
Coloboma of Iris, Choroid, and Retina 57 74
Ocular Coloboma 74 37
Coi 57 74
Coloboma of Iris, Choroid, and Retina; Coi 57
Chronic Obstructive Airway Disease 72
Coloboma of Choroid and Retina 59
Coloboma, Uveoretinal 57
Uveoretinal Coloboma 74
Coloboma of Iris 59
Coad 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 120200
KEGG 37 H01114
MeSH 44 D003103
ICD10 via Orphanet 34 Q13.0 Q14.8
UMLS via Orphanet 73 C0266551
MedGen 42 C0009363
UMLS 72 C0024117

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 aniridia 1, 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 : 37
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 : 74 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 : 75 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 181)
# Related Disease Score Top Affiliating Genes
1 coloboma of iris 34.5 TMEM67 PAX6
2 aniridia 1 29.9 PAX6 CYP1B1
3 colobomatous microphthalmia 29.8 RBP4 ABCB6
4 microphthalmia 29.5 RBP4 PAX6 ABCB6
5 coloboma of macula 27.2 YAP1 TMEM67 SALL2 RBP4 PAX6 FZD5
6 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.6
7 coloboma, ocular, autosomal recessive 12.6
8 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.5
9 obsolete: ocular coloboma 12.4
10 temtamy syndrome 12.2
11 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.0
12 oculoauricular syndrome 11.8
13 otodental dysplasia 11.7
14 retinochoroidal coloboma 11.6
15 microphthalmia, isolated, with coloboma 1 11.5
16 microphthalmia, isolated, with coloboma 7 11.5
17 microphthalmia, isolated, with coloboma 9 11.5
18 baraitser-winter syndrome 11.5
19 ritscher-schinzel syndrome 1 11.5
20 coach syndrome 11.4
21 congenital disorder of glycosylation, type iq 11.4
22 vagneur triolle ripert syndrome 11.4
23 renpenning syndrome 1 11.3
24 hemifacial spasm, familial 11.3
25 focal dermal hypoplasia 11.2
26 microphthalmia, syndromic 9 11.2
27 microphthalmia, isolated, with coloboma 3 11.2
28 microphthalmia, isolated, with coloboma 5 11.2
29 fontaine progeroid syndrome 11.2
30 microphthalmia, isolated, with coloboma 6 11.2
31 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 11.2
32 microphthalmia, isolated, with coloboma 10 11.2
33 ritscher-schinzel syndrome 11.2
34 anterior segment dysgenesis 5 10.4 PAX6 CYP1B1
35 anterior segment dysgenesis 10.4 PAX6 CYP1B1
36 axenfeld-rieger syndrome, type 3 10.4 PAX6 CYP1B1
37 axenfeld-rieger syndrome 10.3 PAX6 CYP1B1
38 bronchitis 10.3
39 branchiootic syndrome 1 10.3
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
41 pulmonary disease, chronic obstructive 10.3
42 peripheral vascular disease 10.3
43 cerebral palsy 10.3
44 cataract 10.2
45 nonsyndromic hearing loss and deafness, mitochondrial 10.2
46 juvenile glaucoma 10.2 PAX6 CYP1B1
47 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
48 pulmonary alveolar microlithiasis 10.1
49 west nile virus 10.1
50 leukemia, acute lymphoblastic 3 10.1

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:

32 (show all 13)
# 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 remnants of the hyaloid vascular system 32 HP:0007968
10 optic nerve coloboma 32 HP:0000588
11 peters anomaly 32 HP:0000659
12 optic nerve aplasia 32 HP:0012521
13 morning glory anomaly 32 HP:0025514

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.86 ABCB6 ACTG1 FZD5 MYH10 PAX6 SALL2
2 digestive/alimentary MP:0005381 9.85 ACTG1 FZD5 PAX6 RBP4 TMEM67 YAP1
3 embryo MP:0005380 9.8 FZD5 MYH10 PAX6 SALL2 TMEM67 YAP1
4 muscle MP:0005369 9.55 ACTG1 MYH10 PAX6 RBP4 YAP1
5 nervous system MP:0003631 9.5 ACTG1 FZD5 MYH10 PAX6 SALL2 TMEM67
6 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 77)
# 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
Propranolol Approved, Investigational Phase 4 525-66-6 4946
5
Ergotamine Approved Phase 4 113-15-5 8223
6
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
7
Nortriptyline Approved Phase 4 72-69-5 4543
8
Sodium citrate Approved, Investigational Phase 4 68-04-2
9
Nitric Oxide Approved Phase 4 10102-43-9 145068
10
Sucralfate Approved Phase 4 54182-58-0
11
Histamine Approved, Investigational Phase 4 51-45-6 774
12
Ranitidine Approved Phase 4 66357-35-5, 66357-59-3 3001055
13
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
16 Neurotransmitter Agents Phase 4
17 Adrenergic Agonists Phase 4
18 Peripheral Nervous System Agents Phase 4
19 Adrenergic beta-Agonists Phase 4
20 Adrenergic beta-2 Receptor Agonists Phase 4
21 Respiratory System Agents Phase 4
22 Adrenergic Agents Phase 4
23 Anticonvulsants Phase 4
24 Anti-Asthmatic Agents Phase 4
25 Bromides Phase 4
26 Autonomic Agents Phase 4
27 Bronchodilator Agents Phase 4
28 Calamus Phase 4
29
Glycopyrrolate Phase 4 596-51-0 3494
30 Adjuvants, Anesthesia Phase 4
31 Muscarinic Antagonists Phase 4
32 Anesthetics Phase 4
33 Albuterol Phase 4
34 Tocolytic Agents Phase 4
35 diuretics Phase 4
36 Natriuretic Agents Phase 4
37 Carbonic Anhydrase Inhibitors Phase 4
38 Gastrointestinal Agents Phase 4
39 Antiemetics Phase 4
40 Anti-Inflammatory Agents Phase 4
41 HIV Protease Inhibitors Phase 4
42 Hormones Phase 4
43 glucocorticoids Phase 4
44
protease inhibitors Phase 4
45 Antineoplastic Agents, Hormonal Phase 4
46 Hormone Antagonists Phase 4
47 BB 1101 Phase 4
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
49 Citrate Phase 4
50 Antacids Phase 4

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 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)
2 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)
3 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
4 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
5 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
6 Dexamethasone for Prophylaxis of Acute Mountain Sickness in Patients With Chronic Obstructive Pulmonary Disease Travelling to Altitude Completed NCT02450968 Phase 4 Dexamethasone;Placebo
7 Cupping Therapy and SERKANGABIN Versus Conventional Treatment of Migraine Headache: a Randomized Controlled Trial Completed NCT01476930 Phase 4 conventional migraine drug treatment
8 The Effect of Supplemental Oxygen During Physical Exercise Training on Exercise Capacity in COPD Patients. Completed NCT01150383 Phase 4
9 Effect of Prolonged Decubitus on Bronchial Inflammation in COPD Patients Evaluated by Expired NO Concentration Assessment Completed NCT01555593 Phase 4
10 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
11 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
12 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
13 Non Invasive Ventilation in Acute Asthma Unknown status NCT00510991 Phase 3
14 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
15 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
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 NCT01715298 Phase 3 NVA237;Placebo
17 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
18 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
19 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
20 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
21 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
22 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
23 A Pilot Randomised Controlled Trial of Withdrawal of Non-invasive Ventilation in COPD Patients With Acute Hypercapnic Respiratory Failure Completed NCT01523470 Phase 3
24 RETHINC: REdefining THerapy In Early COPD for the Pulmonary Trials Cooperative Recruiting NCT02867761 Phase 3 Indacaterol/Glycopyrrolate;Placebo
25 Phase II Dose-Ranging Study of the Efficacy and Safety of Oglemilast in Patients With COPD Completed NCT00671073 Phase 2 Oglemilast;Placebo;Oglemilast;Oglemilast
26 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
27 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
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 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
30 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
31 The Roles of Age, Comorbidity, and Telomere Length in Lung Cancer Treatment and Prognosis Unknown status NCT01963533
32 Effects of Inspiratory and Respiratory Pressure Threshold Training in Patients With Chronic Obstructive Pulmonary Disease Unknown status NCT02326181
33 A Controlled Randomized Trial Comparing Spinal Versus General Anesthesia for Elective Laparoscopic Cholecystectomy in Fit Patients Unknown status NCT00492453
34 Effect of Altitude on Exercise Performance of Patients With Chronic Obstructive Lung Disease Completed NCT01875133
35 Continuous Versus Interval Walking Training in Patients With Severe Chronic Obstructive Pulmonary Disease - a Pilot Study Completed NCT02209207
36 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
37 Pulmonary Disease in a Psychiatric Inpatient Population, a Screening Study Completed NCT01823627
38 Evaluation of Finger Wearable Device to Monitor Heart Rate Variability and Oxygen Saturation in Older People Completed NCT03268538
39 A Pilot Study to Examine the Effect of Acute Exercise on Neutrophil Function in Patients With Chronic Obstructive Pulmonary Disease Completed NCT02124343
40 The Continuous Positive Airway Pressure Effects on Chronic Obstructive Pulmonary Disease Patients With Obstructive Sleep Apnea Completed NCT00914264
41 Clinical Evaluation of e- Ab Sensor - Based Real-time Diagnosis of Serum Procalcitonin Level Completed NCT01388114
42 Cough Responses to Tussive Agents in Health and Disease Completed NCT01297790
43 Effects of a Novel Purifying Device (PureNight) on Sleep Quality in Chronic Obstructive Pulmonary Disease Completed NCT01772342
44 Planetary Habitat Simulation: The Combined Effects of Bed Rest and Normobaric Hypoxia Upon Bone and Mineral Metabolism (WP3) Completed NCT02637921
45 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
46 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
47 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 72 / NDF-RT 51 :


indacaterol
olodaterol
Olodaterol hydrochloride
Prednisolone
Prednisone
Tiotropium

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, Lung, Bone, Heart, 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. 8 71
12721955 2003
2
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 8
24412933 2014
3
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. 71
24462371 2014
4
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 8
19864492 2010
5
GDF6, a novel locus for a spectrum of ocular developmental anomalies. 8
17236135 2007
6
Eye and neural defects associated with loss of GDF6. 8
17010201 2006
7
Ocular coloboma: a reassessment in the age of molecular neuroscience. 8
15591273 2004
8
An iris coloboma preventing pigmentary glaucoma. 8
12860819 2003
9
Iris coloboma with iris heterochromia: a common association. 8
11074823 2000
10
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. 8
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. 8
10546098 1999
12
Congenital eye malformations in 212,479 consecutive births. 8
9259960 1997
13
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? 8
8556825 1995
14
Possible autosomal-recessive ocular coloboma. 8
7282780 1981
15
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome. 38
22361651 2012
16
Ocular manifestations in Wolf-Hirschhorn syndrome. 38
19541266 2009
17
Visual outcome after surgical removal of choroidal neovascularization in pediatric patients. 38
11030819 2000

Variations for Coloboma, Ocular, Autosomal Dominant

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

6 (show all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 11:31815343-31815343 11:31793795-31793795
2 RBP4 NM_006744.4(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 10:95353754-95353754 10:93593997-93593997
3 CYP1B1 NM_000104.3(CYP1B1): c.868dup (p.Arg290fs) duplication Pathogenic rs587778875 2:38301664-38301664 2:38074521-38074521
4 YAP1 NM_001130145.3(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 11:101984923-101984923 11:102114192-102114192
5 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 11:31815335-31815335 11:31793787-31793787
6 MYH10 NM_001256012.2(MYH10): c.4505G> C (p.Arg1502Pro) single nucleotide variant Pathogenic 17:8395781-8395781 17:8492463-8492463
7 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 8:94798483-94798483 8:93786255-93786255
8 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 8:94808198-94808198 8:93795970-93795970
9 FIBP NM_198897.2(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 11:65652652-65652652 11:65885181-65885181
10 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121907922 11:31811483-31811483 11:31789935-31789935
11 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 2:38298394-38298394 2:38071251-38071251
12 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 2:38302291-38302291 2:38075148-38075148
13 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 2:38301847-38301847 2:38074704-38074704
14 BFSP1 NM_001195.5(BFSP1): c.776G> C (p.Cys259Ser) single nucleotide variant Uncertain significance rs557601555 20:17479645-17479645 20:17499000-17499000
15 SLC16A12 NM_213606.4(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 10:91198917-91198917 10:89439160-89439160
16 CDK5RAP2 NM_018249.6(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 9:123234112-123234112 9:120471834-120471834
17 BFSP1 NM_001195.5(BFSP1): c.1995_1996del (p.Ter666LysextTer?) deletion Benign rs548358901 20:17474721-17474722 20:17494076-17494077

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

74
# 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 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 YAP1 PAX6 FZD5
2 10.99 YAP1 FZD5 ACTG1
3 10.95 PAX6 FZD5

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 9.5 PAX6 MYH10 ABCB6
2 platelet aggregation GO:0070527 9.4 FIBP ACTG1
3 regulation of neurogenesis GO:0050767 9.37 YAP1 PAX6
4 visual perception GO:0007601 9.33 RBP4 PAX6 CYP1B1
5 retinol metabolic process GO:0042572 9.26 RBP4 CYP1B1
6 embryonic camera-type eye morphogenesis GO:0048596 8.96 PAX6 FZD5
7 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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