Cavitary Optic Disc Anomalies (CODA)

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

Aliases & Classifications for Cavitary Optic Disc Anomalies

MalaCards integrated aliases for Cavitary Optic Disc Anomalies:

Name: Cavitary Optic Disc Anomalies 57 74 37 29 13 6 72
Coda 57 74
Familial Cavitary Optic Disc Anomaly 59
Eye Diseases, Hereditary 44
Familial Coda 59



autosomal dominant

onset of symptoms in adolescence or early adulthood
broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients
more than half of patients develop retinal detachments and/or retinoschisis later in life
some patients are asymptomatic and diagnosed incidentally


cavitary optic disc anomalies:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 611543
KEGG 37 H02270
MeSH 44 D015785
Orphanet 59 ORPHA464760
MedGen 42 C1969063
UMLS 72 C1969063

Summaries for Cavitary Optic Disc Anomalies

UniProtKB/Swiss-Prot : 74 Cavitary optic disc anomalies: An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss.

MalaCards based summary : Cavitary Optic Disc Anomalies, also known as coda, is related to codas syndrome and even-plus syndrome. An important gene associated with Cavitary Optic Disc Anomalies is MMP19 (Matrix Metallopeptidase 19). The drugs cysteine and Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and retina, and related phenotypes are nyctalopia and peripapillary atrophy

KEGG : 37
Congenital cavitary optic disc anomalies (CODA) include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Recently, a copy number variation upstream of matrix metalloproteinase 19 (MMP19) has been discovered in an autosomal dominant pedigree with CODA.

More information from OMIM: 611543

Related Diseases for Cavitary Optic Disc Anomalies

Graphical network of the top 20 diseases related to Cavitary Optic Disc Anomalies:

Diseases related to Cavitary Optic Disc Anomalies

Symptoms & Phenotypes for Cavitary Optic Disc Anomalies

Human phenotypes related to Cavitary Optic Disc Anomalies:

# Description HPO Frequency HPO Source Accession
1 nyctalopia 32 occasional (7.5%) HP:0000662
2 peripapillary atrophy 32 very rare (1%) HP:0500087
3 reduced visual acuity 32 HP:0007663
4 visual field defect 32 HP:0001123

Symptoms via clinical synopsis from OMIM:

Head And Neck Eyes:
decreased visual acuity
visual field defects
night blindness (rare)
colobomatous optic nerve head (in some patients)
optic nerve head pit (in some patients)

Clinical features from OMIM:


Drugs & Therapeutics for Cavitary Optic Disc Anomalies

Drugs for Cavitary Optic Disc Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Phase 2, Phase 3
2 Central Nervous System Depressants Phase 3
3 Pharmaceutical Solutions Phase 3
4 Anesthetics Phase 3
5 Anti-Infective Agents, Local Phase 3
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
Oxytetracycline Approved, Investigational, Vet_approved Phase 1, Phase 2 79-57-2 5280972 54715139
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
Hydromorphone Approved, Illicit Phase 2 466-99-9 5284570
10 Neurotransmitter Agents Phase 2
11 Tranquilizing Agents Phase 2
12 GABA Agents Phase 2
13 Psychotropic Drugs Phase 2
14 Anticonvulsants Phase 2
15 Antimanic Agents Phase 2
16 Antimalarials Phase 1, Phase 2
17 Peripheral Nervous System Agents Phase 2
18 Analgesics Phase 2
19 Narcotics Phase 2
20 Analgesics, Opioid Phase 2
Ciprofloxacin Approved, Investigational 85721-33-1 2764
Clindamycin Approved, Vet_approved 18323-44-9 29029
Clavulanate Approved, Vet_approved 58001-44-8 5280980
Cefoxitin Approved 35607-66-0 441199
Ofloxacin Approved 82419-36-1 4583
Ceftriaxone Approved 73384-59-5 5479530 5361919
Cefotaxime Approved 63527-52-6 456256 5742673
Levofloxacin Approved, Investigational 100986-85-4 149096
Norgestimate Approved, Investigational 35189-28-7 6540478
Cefazolin Approved 25953-19-9 656510 33255
Metronidazole Approved 443-48-1 4173
Moxifloxacin Approved, Investigational 354812-41-2, 151096-09-2 152946
Ticarcillin Approved, Investigational, Vet_approved 34787-01-4 36921
Ertapenem Approved, Investigational 153832-46-3 150610
Ethinyl Estradiol Approved 57-63-6 5991
Cefuroxime Approved 55268-75-2 5361202 5479529
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
Polyestradiol phosphate Approved 28014-46-2
Tigecycline Approved 220620-09-7 5282044
Beta carotene Approved, Nutraceutical 7235-40-7
41 (T,G)-A-L
42 Adjuvants, Immunologic
43 Immunologic Factors
Glatiramer Acetate 147245-92-9 3081884
45 Immunosuppressive Agents
46 Antirheumatic Agents
47 Lemon Balm
48 Micronutrients
49 Trace Elements
50 Antioxidants

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Targeted Hip Progressive Resistance Training to Improve Single Leg Balance and Walking in Children With Cerebral Palsy Unknown status NCT01633736 Phase 3
2 Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for More Than 6 Months and To 12 Months by LHON Due to the G11778A Mutation in the ND4 Gene Completed NCT02652780 Phase 3
3 Double-masked, Randomized, Controlled, Multiple-dose Study to Evaluate Efficacy, Safety, Tolerability and Syst. Exposure of QR-110 in Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Recruiting NCT03913143 Phase 2, Phase 3 QR-110
4 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
5 A Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for 6 Months or Less by LHON Due to the G11778A Mutation in the Mitochondrial ND4 Gene Active, not recruiting NCT02652767 Phase 3
6 The Effect of Subantimicrobial Dose Doxycycline in Mild Graves' Orbitopathy Unknown status NCT02203682 Phase 2 Doxycycline;placebo
7 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
8 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy: a Prospective, Uncontrolled Pilot Study Completed NCT01727973 Phase 1, Phase 2 Doxycycline
9 A Randomized, Double-Blind, Vehicle-controlled, Parallel Group, Dose-Ranging, Multi-center Study of the Efficacy and Safety of Nexagon® in the Treatment of Participants With Venous Leg Ulcers Completed NCT00820196 Phase 2 Nexagon®;Nexagon® vehicle
10 A Randomized, Parallel Group, Dose-Ranging, Controlled, Multi-Center Study to Assess the Efficacy and Safety of Nexagon® in the Treatment of Subjects With a Venous Leg Ulcer Completed NCT01199588 Phase 2 Nexagon® Low Dose;Nexagon® High Dose;Nexagon® Vehicle
11 A Randomized, Prospective, Double-blind, Vehicle-controlled, Dose-ranging, Multi-center Study to Assess the Safety and Clinical Effect of Nexagon® in the Treatment of Subjects With a Diabetic Foot Ulcer Completed NCT01490879 Phase 2 Nexagon® Low Dose;Nexagon® Medium Dose;Nexagon® High Dose;Nexagon® vehicle
12 Safety and Speed of Onset of a Fixed Dose of Intravenous Hydromorphone in the Treatment of Adult Patients Presenting to the Emergency Department With Acute Severe Pain Completed NCT00305110 Phase 2 2 mg IV hydromorphone
13 A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
14 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of AGN-151587 (EDIT-101) in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26") Recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
15 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
16 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
17 An Open-Label, Extension Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Recruiting NCT03913130 Phase 1, Phase 2 QR-110
18 A Randomized, Prospective, Double-blind, Vehicle-controlled, Dose-escalation, Single-center Study of the Safety and Clinical Effect of Nexagon® in the Treatment of Participants With Diabetic Foot Ulcers Terminated NCT00820703 Phase 1, Phase 2 Nexagon®;Nexagon® vehicle
19 A Phase 2, Randomized, Prospective, Double-masked, Vehicle-controlled, Dose-ranging Study to Evaluate the Efficacy and Safety of Nexagon® in Subjects With Persistent Corneal Epithelial Defects (PED) From Chemical Burn Injuries. Withdrawn NCT00821561 Phase 2 Nexagon®;Nexagon® vehicle
20 A Phase 1 Randomized, Prospective, Double-Masked, Vehicle-Controlled, Dose-Escalation Study to Evaluate the Safety, Tolerability and Clinical Effect of Nexagon™ in Subjects Following Bilateral Photorefractive Keratectomy (PRK) for the Correction of Mild to Moderate Myopia. Completed NCT00654550 Phase 1 Nexagon™ or Nexagon™ vehicle
21 Three Dimensional Gait Evaluation in Relapsing Remitting Multiple Sclerosis Patients Treated With Glatiramer Acetate Unknown status NCT00331747 Glatiramer acetate
22 Fundus Changes in the Microphthalmy Eyes Completed NCT00811512
23 Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients: A Prospective Multicenter Clinical Study Based on Randomized Intra-individual Implant Activation in Patients With Degenerative Retinal Diseases Completed NCT01024803
24 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
25 Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Inherited Ophthalmic Diseases Completed NCT00001732
26 Evaluation and Treatment Protocol for Potential Research Subjects With Inherited Ophthalmic Diseases Completed NCT00011817
27 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
28 The Role of the Peroneus Brevis and Peroneus Longus in Patients With Chronic Ankle Instability and the Effect of an Exercise Intervention Completed NCT02276339
29 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2) Recruiting NCT02946879
30 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Recruiting NCT03295071
31 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials Recruiting NCT03406104
32 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042
33 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
34 The Comparison of Outcomes of Antibiotic Drugs and Appendectomy (CODA) Trial Recruiting NCT02800785 Cefoxitin, Ertapenem, Moxifloxacin, Tigecycline, Ticarcillin-Clavulanic Acid; Metronidazole plus Cefazolin, Cefuroxime, Ceftriaxone, Cefotaxime, Ciprofloxacin, or Levofloxacin
35 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
37 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
38 Pilot Study of Intravitreal Bevacizumab vs. Combination Therapy for Choroidal Neovascularization Secondary to Causes Other Than Age-related Macular Degeneration Withdrawn NCT01256580 Bevacizumab (Avastin; Genentech, Inc.);Bevacizumab, Dexamethasone, Verteporfin Photodynamic Therapy

Search NIH Clinical Center for Cavitary Optic Disc Anomalies

Cochrane evidence based reviews: eye diseases, hereditary

Genetic Tests for Cavitary Optic Disc Anomalies

Genetic tests related to Cavitary Optic Disc Anomalies:

# Genetic test Affiliating Genes
1 Cavitary Optic Disc Anomalies 29 MMP19

Anatomical Context for Cavitary Optic Disc Anomalies

MalaCards organs/tissues related to Cavitary Optic Disc Anomalies:

Eye, Testes, Retina, Heart, Skin, Bone, Brain

Publications for Cavitary Optic Disc Anomalies

Articles related to Cavitary Optic Disc Anomalies:

(show top 50) (show all 622)
# Title Authors PMID Year
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. 38 8 71
25581579 2015
Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve colobomas. 8 71
10764862 2000
The spectrum of cavitary optic disc anomalies in a family. 38 8
2710526 1989
Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. 8
17362864 2007
Familial cavitary optic disk anomalies: identification of a novel genetic locus. 8
17368552 2007
Optic nerve colobomas of autosomal-dominant heredity. 8
945057 1976
Assessing the effect of season, montanera length and sampling location on Iberian pig fat by compositional data analysis and standard multivariate statistics. 38
31174772 2019
Phonological selectivity in the acquisition of English clusters. 38
31434589 2019
Relations between socio-economic factors and nutritional diet in Vietnam from 2004 to 2014: New insights using compositional data analysis. 38
29683048 2019
The occlusion balloon reduction technique for de novo placement and salvage of malpositioned enteric tubes. 38
31065744 2019
Patient-Specific, Risk-Based Prevention, Maintenance, and Supportive Care: A Need for Action and Innovation in Education. 38
30924568 2019
Is there adaptation of speech production after speech perception in bilingual interaction? 38
30265054 2019
Narrative Production in Arabic-speaking Adolescents with and without Hearing Loss. 38
30668867 2019
Use of Compositional Data Analysis to Show Estimated Changes in Cardiometabolic Health by Reallocating Time to Light-Intensity Physical Activity in Older Adults. 38
31350674 2019
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries. 38
31313535 2019
In Reply to Coda. 38
31241571 2019
Write a Scientific Paper (WASP): Coda, but our revels now are not ended. 38
31133350 2019
Monitoring cleaning cycles of fouled ducts using ultrasonic coda wave interferometry (CWI). 38
30745025 2019
Nonlinear Coda Wave Interferometry: Sensitivity to wave-induced material property changes analyzed via numerical simulations in 2D. 38
31419760 2019
Phrase-final lengthening modulates listeners' perception of vowel duration as a cue to coda stop voicing. 38
31255099 2019
Accumulation of glycine betaine in transplastomic potato plants expressing choline oxidase confers improved drought tolerance. 38
30900084 2019
Efficient editing DNA regions with high sequence identity in actinomycetal genomes by a CRISPR-Cas9 system. 38
30891508 2019
Genesis and mechanisms controlling tornillo seismo-volcanic events in volcanic areas. 38
31089180 2019
Expert Consensus on Growth and Development Curricula for Predoctoral and Advanced Education Orthodontic Programs. 38
30858279 2019
Thermal modulation of nonlinear ultrasonic wave for concrete damage evaluation. 38
31153317 2019
Bubbly flow velocity measurement in multiple scattering regime. 38
30897385 2019
CODA-ML: context-specific biological knowledge representation for systemic physiology analysis. 38
31138123 2019
Correlation between Physical Activity and Lung Function in Dusty Areas: Results from the Chronic Obstructive Pulmonary Disease in Dusty Areas (CODA) Cohort. 38
31172706 2019
Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology. 38
31029096 2019
Click Nucleic Acid Mediated Loading of Prodrug Activating Enzymes in PEG-PLGA Nanoparticles for Combination Chemotherapy. 38
30884222 2019
Total mercury, chromium, nickel and other trace chemical element contents in soils at an old cinnabar mine site (Merník, Slovakia): anthropogenic versus natural sources of soil contamination. 38
30953219 2019
Genetic engineering of the biosynthesis of glycinebetaine enhances the fruit development and size of tomato. 38
30824015 2019
Migration of Aortic Occlusion Balloons in an in vitro model of the human circulation. 38
30594315 2019
[When Deaf Parents' Deaf Children Provided with Cochlear Implant Begin to Hear: Effects on the Family Situation]. 38
30736066 2019
Sensitivity of coda wave interferometry to fluid migration through rock. 38
30823811 2019
Dynamics of geologic CO2 storage and plume motion revealed by seismic coda waves. 38
30679273 2019
Coda-wave monitoring of continuously evolving material properties and the precursory detection of yielding. 38
30823791 2019
Distributed Fiber Optics Sensing and Coda Wave Interferometry Techniques for Damage Monitoring in Concrete Structures. 38
30654591 2019
Interprofessional Education in U.S. Dental Hygiene Programs: Program Director Responses Before and After Introduction of CODA Standard 2-15. 38
30600245 2019
Effects of Word Position on the Acoustic Realization of Vietnamese Final Consonants. 38
29852503 2019
Correction: Niederleithinger, E., et al. Processing Ultrasonic Data by Coda Wave Interferometry to Monitor Load Tests of Concrete Beams. Sensors 2018, 18, 1971. 38
30609858 2019
The interactive effect of herbivory, nutrient enrichment and mucilage on shallow rocky macroalgal communities. 38
31139504 2019
Views from the borderline: Extracts from my life as a coloured child of Deaf adults, growing up in apartheid South Africa. 38
31049307 2019
Towards the Quantification of Peggy Babcock: Speech Errors and Their Position within the Word. 38
30481752 2019
/l/ velarisation as a continuum. 38
30856195 2019
F0 Timing and Tone Contrasts in Luganda. 38
30016787 2019
Building geochemically based quantitative analogies from soil classification systems using different compositional datasets. 38
30779791 2019
Development and Prediction of Context-Dependent Vowel Pronunciation in Elementary Readers. 38
30853786 2019
Extent of Elder Abuse Training in Dental Hygiene Curricula and Program Directors' Perceptions of Importance of and Barriers to Implementation. 38
30600248 2019
Production of Marker-Free Apple Plants Expressing the Supersweet Protein Gene Driven by Plant Promoter. 38
30984230 2019

Variations for Cavitary Optic Disc Anomalies

ClinVar genetic disease variations for Cavitary Optic Disc Anomalies:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177)x4 copy number gain Pathogenic 12:56238827-56244961 12:55845043-55851177
2 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177) copy number gain Pathogenic 12:56238827-56244961 12:55845043-55851177

Expression for Cavitary Optic Disc Anomalies

Search GEO for disease gene expression data for Cavitary Optic Disc Anomalies.

Pathways for Cavitary Optic Disc Anomalies

GO Terms for Cavitary Optic Disc Anomalies

Sources for Cavitary Optic Disc Anomalies

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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