CODA
MCID: CVT001
MIFTS: 38

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 72 36 29 13 6 70
Coda 57 72
Familial Cavitary Optic Disc Anomaly 58
Eye Diseases, Hereditary 44
Familial Coda 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
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


HPO:

31
cavitary optic disc anomalies:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 611543
KEGG 36 H02270
MeSH 44 D015785
Orphanet 58 ORPHA464760
MedGen 41 C1969063
UMLS 70 C1969063

Summaries for Cavitary Optic Disc Anomalies

UniProtKB/Swiss-Prot : 72 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 coloboma of macula and coloboma of optic nerve. An important gene associated with Cavitary Optic Disc Anomalies is MMP19 (Matrix Metallopeptidase 19). The drugs Cysteine and Oxytetracycline have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and skin, and related phenotypes are nyctalopia and peripapillary atrophy

KEGG : 36 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

Diseases related to Cavitary Optic Disc Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 coloboma of macula 10.3
2 coloboma of optic nerve 10.1
3 retinoschisis 1, x-linked, juvenile 10.1
4 vitreous detachment 10.1
5 retinochoroidal coloboma 10.1
6 spondylosis, cervical 9.9
7 triiodothyronine receptor auxiliary protein 9.9
8 pulmonary disease, chronic obstructive 9.9
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
10 mild cognitive impairment 9.9
11 cerebral palsy 9.9
12 spondylosis 9.9
13 syphilis 9.9
14 appendicitis 9.9

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:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 occasional (7.5%) HP:0000662
2 peripapillary atrophy 31 very rare (1%) HP:0500087
3 reduced visual acuity 31 HP:0007663
4 visual field defect 31 HP:0001123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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)
more

Clinical features from OMIM®:

611543 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cavitary Optic Disc Anomalies

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteine Approved, Nutraceutical Phase 2, Phase 3 52-90-4 5862
2
Oxytetracycline Approved, Investigational, Vet_approved Phase 1, Phase 2 79-57-2 5280972 54715139
3
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
4
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
5 Antimalarials Phase 1, Phase 2
6 Psychotropic Drugs Phase 2
7 Neurotransmitter Agents Phase 2
8 Anticonvulsants Phase 2
9 Anesthetics Phase 2
10
Ceftriaxone Approved 73384-59-5 5479530 5361919
11
Cefoxitin Approved 35607-66-0 441199
12
Cefuroxime Approved 55268-75-2 5361202 5479529
13
Cefazolin Approved 25953-19-9 33255 656510
14
Cefotaxime Approved 63527-52-6 456256 5742673
15
Ofloxacin Approved 82419-36-1 4583
16
Ciprofloxacin Approved, Investigational 85721-33-1 2764
17
Ertapenem Approved, Investigational 153832-46-3 150610
18
Moxifloxacin Approved, Investigational 354812-41-2, 151096-09-2 152946
19
Metronidazole Approved 443-48-1 4173
20
Clindamycin Approved, Vet_approved 18323-44-9 29029
21
Tigecycline Approved 220620-09-7 5282044
22
Levofloxacin Approved, Investigational 100986-85-4 149096
23
Ticarcillin Approved, Investigational, Vet_approved 34787-01-4 36921
24 Antiparasitic Agents
25 Anti-Bacterial Agents
26 Anti-Infective Agents
27 Antiprotozoal Agents
28 cefuroxime axetil
29 Antibiotics, Antitubercular
30 Cephalosporins
31 Cytochrome P-450 Enzyme Inhibitors
32 Clavulanic Acids
33 Clindamycin phosphate
34 Clindamycin palmitate
35 Ticarcillin-clavulanic acid
36 beta-Lactamase Inhibitors
37 Norgestimate, ethinyl estradiol drug combination

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 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 Active, not recruiting NCT03913143 Phase 2, Phase 3 sepofarsen
2 The Effect of Subantimicrobial Dose Doxycycline in Mild Graves' Orbitopathy Unknown status NCT02203682 Phase 2 Doxycycline;placebo
3 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
4 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
5 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of 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 EDIT-101
6 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
7 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
8 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 Active, not recruiting NCT03913130 Phase 1, Phase 2 QR-110
9 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
10 Fundus Changes in the Microphthalmy Eyes Completed NCT00811512
11 Evaluation and Treatment Protocol for Potential Research Subjects With Inherited Ophthalmic Diseases Completed NCT00011817
12 Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Inherited Ophthalmic Diseases Completed NCT00001732
13 Diagnostic Value of Patient - Reported and Clinically Verified Olfactory Disorders in a Population Tested for COVID-19 Completed NCT04407494
14 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
15 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
16 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042
17 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
18 The Comparison of Outcomes of Antibiotic Drugs and Appendectomy (CODA) Trial Active, not recruiting NCT02800785 Cefoxitin, Ertapenem, Moxifloxacin, Tigecycline, Ticarcillin-Clavulanic Acid; Metronidazole plus Cefazolin, Cefuroxime, Ceftriaxone, Cefotaxime, Ciprofloxacin, or Levofloxacin
19 Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Not yet recruiting NCT04765345
20 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:

40
Eye, Retina, Skin, Spinal Cord, Colon, Breast, Tongue

Publications for Cavitary Optic Disc Anomalies

Articles related to Cavitary Optic Disc Anomalies:

(show top 50) (show all 731)
# Title Authors PMID Year
1
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. 6 57 61
25581579 2015
2
Familial cavitary optic disk anomalies: identification of a novel genetic locus. 6 57
17368552 2007
3
Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. 57 6
17362864 2007
4
Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve colobomas. 6 57
10764862 2000
5
The spectrum of cavitary optic disc anomalies in a family. 61 57
2710526 1989
6
Optic nerve colobomas of autosomal-dominant heredity. 57
945057 1976
7
Endovascular Vena Cavae Occlusion Technique in Minimally Invasive Tricuspid Valve Surgery in Patients With Previous Cardiac Surgery. 61
33376068 2021
8
Relating starter cultures to volatile profile and potential markers in green Spanish-style table olives by compositional data analysis. 61
33279084 2021
9
Data on preboundary lengthening in Tokyo Japanese as a function of prosodic prominence, boundary, lexical pitch accent and moraic structure. 61
33786344 2021
10
Fluorescence polarization system for rapid COVID-19 diagnosis. 61
33540323 2021
11
Clinical Oral Disorders in Adults Screening Protocol (CODA-SP) from the 2019 Vancouver IADR Consensus Symposium. 61
33009707 2021
12
Body Composition Analyses Require Compositional Data Analytic (CoDA) Methods. 61
33759398 2021
13
Diagnostic Value of Patient-Reported and Clinically Tested Olfactory Dysfunction in a Population Screened for COVID-19. 61
33410887 2021
14
Glycinebetaine mitigated the photoinhibition of photosystem II at high temperature in transgenic tomato plants. 61
33394352 2021
15
Objectively measured intensity-specific physical activity and hippocampal volume among community-dwelling older adults. 61
33716269 2021
16
Source location of volcanic earthquakes and subsurface characterization using fiber-optic cable and distributed acoustic sensing system. 61
33737622 2021
17
Working from home during the COVID-19 outbreak in Sweden: effects on 24-h time-use in office workers. 61
33731066 2021
18
Segmented School Physical Activity and Weight Status in Children: Application of Compositional Data Analysis. 61
33801038 2021
19
Generic multicriteria approach to determine the best precipitation agent for removal of biomacromolecules prior to non-targeted metabolic analysis. 61
33621794 2021
20
Effects of different training strategies with a weight vest on countermovement vertical jump and change-of-direction ability in male volleyball athletes. 61
32878424 2021
21
Spectral contrast reduction in Australian English /l/-final rimes. 61
33639793 2021
22
Balloon-Assisted True Lumen Expansion and Fenestration of a Symptomatic, Triple-Barrel, Postdissection Thoracoabdominal Aneurysm with Collapsed True Lumen to Facilitate Endovascular Treatment with a t-Branch. 61
33556515 2021
23
Evaluation of natural background levels of high mountain karst aquifers in complex hydrogeological settings. A Gaussian mixture model approach in the Port del Comte (SE, Pyrenees) case study. 61
33293084 2021
24
A contemporary assessment of devices for Resuscitative Endovascular Balloon Occlusion of the Aorta (REBOA): resource-specific options per level of care. 61
32472443 2021
25
Sleep and cardiometabolic health in children and adults: examining sleep as a component of the 24-h day. 61
33387878 2021
26
Patterns of co-occurring birth defects among infants with hypospadias. 61
33281045 2021
27
Lower limb biomechanics during gait in children with Achondroplasia. 61
33631664 2021
28
Effects of Glottalisation, Preceding Vowel Duration, and Coda Closure Duration on the Perception of Coda Stop Voicing. 61
32911477 2021
29
A comparative study of chest CT findings regarding the effects of regional dust exposure on patients with COPD living in urban areas and rural areas near cement plants. 61
33549113 2021
30
Acoustic cues to coda stop voicing contrasts in Australian English-speaking children. 61
33563341 2021
31
Identification and Validation of a Novel DNA Damage and DNA Repair Related Genes Based Signature for Colon Cancer Prognosis. 61
33719345 2021
32
Modeling and visualizing two-way contingency tables using compositional data analysis: A case-study on individual self-prediction of migraine days. 61
33113589 2021
33
Associations of movement behaviors and body mass index: comparison between a report-based and monitor-based method using Compositional Data Analysis. 61
32661291 2021
34
Acoustic imaging using unknown random sources. 61
33514176 2021
35
Physicians' perceptions of the role of the dental hygienist in interprofessional collaboration: a pilot study. 61
32130056 2021
36
Bounded Confidence Evolution of Opinions and Actions in Social Networks. 61
33449900 2021
37
Curricular and clinical approaches to addressing the opioid epidemic: Results from the 2019 ADEA opioid dental school survey. 61
33089898 2020
38
Impact of Processing and Extraction on the Minor Components of Green Spanish-Style Gordal Table Olive Fat, as Assessed by Innovative Approaches. 61
33419301 2020
39
Consistency norms for 37,677 english words. 61
32472499 2020
40
Synechococcus elongatus PCC7942: a cyanobacterium cell factory for producing useful chemicals and fuels under abiotic stress conditions. 61
32301003 2020
41
Different Cognitive Correlates of Early Learning of Spelling of Different Target Types in Korean Hangul Among L1 Children and Adult Foreign Language Learners. 61
33307946 2020
42
An environmental scan of pharmacists supporting pre-doctoral dental education institutions. 61
33332596 2020
43
An application of compositional data analysis to multiomic time-series data. 61
33575625 2020
44
Local damage detection by nonlinear coda wave interferometry combined with time reversal. 61
32702555 2020
45
Glottalisation, coda voicing, and phrase position in Australian English. 61
33261374 2020
46
Comparative effects of glycinebetaine on the thermotolerance in codA- and BADH-transgenic tomato plants under high temperature stress. 61
32860517 2020
47
Birth defects that co-occur with non-syndromic gastroschisis and omphalocele. 61
32885608 2020
48
Endogenous accumulation of glycine betaine confers improved low temperature resistance on transplastomic potato plants. 61
32690130 2020
49
A Randomized Trial Comparing Antibiotics with Appendectomy for Appendicitis. 61
33017106 2020
50
Preprocessing alternatives for compositional data related to water, sanitation and hygiene. 61
32663686 2020

Variations for Cavitary Optic Disc Anomalies

ClinVar genetic disease variations for Cavitary Optic Disc Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMP19 GRCh38/hg38 12q13.2(chr12:55845043-55851177)x4 copy number gain Pathogenic 180748 GRCh37: 12:56238827-56244961
GRCh38: 12:55845043-55851177
2 MMP19 GRCh38/hg38 12q13.2(chr12:55845043-55851177) Duplication Pathogenic 208981 GRCh37: 12:56238826-56238827
GRCh38: 12:55845042-55845043
3 MMP19 NM_002429.6(MMP19):c.13C>T (p.Gln5Ter) SNV Pathogenic 776900 rs17844787 GRCh37: 12:56236602-56236602
GRCh38: 12:55842818-55842818
4 MMP19 NM_002429.6(MMP19):c.173+1G>A SNV Pathogenic 1030553 GRCh37: 12:56236136-56236136
GRCh38: 12:55842352-55842352
5 MMP19 NM_002429.6(MMP19):c.21G>A (p.Trp7Ter) SNV Pathogenic 1033917 GRCh37: 12:56236594-56236594
GRCh38: 12:55842810-55842810
6 MMP19 NM_002429.6(MMP19):c.939G>A (p.Trp313Ter) SNV Pathogenic 1033918 GRCh37: 12:56231748-56231748
GRCh38: 12:55837964-55837964

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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