CODA
MCID: CVT001
MIFTS: 30

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 58 76 38 30 13 6 74
Coda 58 76
Familial Cavitary Optic Disc Anomaly 60
Eye Diseases, Hereditary 45
Familial Coda 60

Characteristics:

OMIM:

58
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:

33
cavitary optic disc anomalies:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 611543
KEGG 38 H02270
MeSH 45 D015785
Orphanet 60 ORPHA464760
MedGen 43 C1969063
UMLS 74 C1969063

Summaries for Cavitary Optic Disc Anomalies

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include eye and testes, and related phenotypes are nyctalopia and peripapillary atrophy

Description 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:

# Related Disease Score Top Affiliating Genes
1 codas syndrome 12.7
2 even-plus syndrome 11.1
3 wolf-hirschhorn syndrome 10.1
4 chromosome 4p deletion 10.1
5 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
6 disease of mental health 10.0
7 spondylosis 10.0
8 syphilis 10.0
9 appendicitis 10.0

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:

33
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 occasional (7.5%) HP:0000662
2 peripapillary atrophy 33 very rare (1%) HP:0500087
3 reduced visual acuity 33 HP:0007663
4 visual field defect 33 HP:0001123

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Cavitary Optic Disc Anomalies

Search Clinical Trials , 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 30 MMP19

Anatomical Context for Cavitary Optic Disc Anomalies

MalaCards organs/tissues related to Cavitary Optic Disc Anomalies:

42
Eye, Testes

Publications for Cavitary Optic Disc Anomalies

Articles related to Cavitary Optic Disc Anomalies:

(show top 50) (show all 131)
# Title Authors Year
1
Interprofessional Education in U.S. Dental Hygiene Programs: Program Director Responses Before and After Introduction of CODA Standard 2-15. ( 30600245 )
2019
2
Correction: Niederleithinger, E., et al. Processing Ultrasonic Data by Coda Wave Interferometry to Monitor Load Tests of Concrete Beams. Sensors 2018, 18, 1971. ( 30609858 )
2019
3
Distributed Fiber Optics Sensing and Coda Wave Interferometry Techniques for Damage Monitoring in Concrete Structures. ( 30654591 )
2019
4
Dynamics of geologic CO2 storage and plume motion revealed by seismic coda waves. ( 30679273 )
2019
5
Coda-wave monitoring of continuously evolving material properties and the precursory detection of yielding. ( 30823791 )
2019
6
Sensitivity of coda wave interferometry to fluid migration through rock. ( 30823811 )
2019
7
Role of the Epipapillary Membrane in Maculopathy Associated with Cavitary Optic Disc Anomalies: Morphology, Surgical Outcomes, and Histopathology. ( 29854427 )
2018
8
Inflammatory biomarkers and radiologic measurements in never-smokers with COPD: A cross-sectional study from the CODA cohort. ( 29117798 )
2018
9
Reliability and validity of a Coda Motion 3-D Analysis system for measuring cervical range of motion in healthy subjects. ( 29169054 )
2018
10
Author Correction: CODA: Integrating multi-level context-oriented directed associations for analysis of drug effects. ( 29343846 )
2018
11
Publisher Correction: CODA: Integrating multi-level context-oriented directed associations for analysis of drug effects. ( 29511315 )
2018
12
The role of gesture delay in coda /r/ weakening: An articulatory, auditory and acoustic study. ( 29604687 )
2018
13
Mass, height of burst, and source-receiver distance constraints on the acoustic coda phase delay method. ( 29716266 )
2018
14
The Construct Validity of the CODA and Repeated Sprint Ability Tests in Football Referees. ( 29902810 )
2018
15
Processing Ultrasonic Data by Coda Wave Interferometry to Monitor Load Tests of Concrete Beams. ( 29921820 )
2018
16
Monitoring cleaning cycles of fouled ducts using ultrasonic coda wave interferometry (CWI). ( 30745025 )
2018
17
Comparison of Outcomes of antibiotic Drugs and Appendectomy (CODA) trial: a protocol for the pragmatic randomised study of appendicitis treatment. ( 29146633 )
2017
18
Nonlinear coda wave interferometry for the global evaluation of damage levels in complex solids. ( 27693600 )
2017
19
Bio-CoDa: A new analysis class to ensure accurate and precise monoclonal antibody CQA estimation and control. ( 28436003 )
2017
20
Frequency selection for coda wave interferometry in concrete structures. ( 28463745 )
2017
21
Laboratory studies of ultrasonic wave response of fractures with different lengths: Anisotropy characteristics and coda analysis. ( 28528218 )
2017
22
Graduate Periodontics Programs' Integration of Implant Provisionalization in Core Curricula: Implementation of CODA Standard 4-10.2.d. ( 28572416 )
2017
23
Dynamic acousto-elastic testing of concrete with a coda-wave probe: comparison with standard linear and nonlinear ultrasonic techniques. ( 28578221 )
2017
24
CODA: Integrating multi-level context-oriented directed associations for analysis of drug effects. ( 28790372 )
2017
25
An application of the Continuous Opinions and Discrete Actions (CODA) model to adolescent smoking initiation. ( 29020024 )
2017
26
STI Versus STD: Coda. ( 29023286 )
2017
27
Evaluation of crack status in a meter-size concrete structure using the ultrasonic nonlinear coda wave interferometry. ( 29092560 )
2017
28
Interprofessional Education in Dental Hygiene Programs and CODA Standards: Dental Hygiene Program Directors' Perspectives. ( 29118251 )
2017
29
Material State Awareness for Composites Part I: Precursor Damage Analysis Using Ultrasonic Guided Coda Wave Interferometry (CWI). ( 29258179 )
2017
30
Coda reconstruction from cross-correlation of a diffuse field on thin elastic plates. ( 29346881 )
2017
31
Transgenic poplar expressing codA exhibits enhanced growth and abiotic stress tolerance. ( 26795732 )
2016
32
Dynamic hyperarticulation of coda voicing contrasts. ( 26936581 )
2016
33
Differences in coda voicing trigger changes in gestural timing: A test case from the American English diphthong /aɪ/. ( 26966337 )
2016
34
SOCIAL SCIENCE. Ironic coda to fraudulent study of bias. ( 27124431 )
2016
35
Phonetic Encoding of Coda Voicing Contrast under Different Focus Conditions in L1 vs. L2 English. ( 27242571 )
2016
36
The Coda of the Transient Response in a Sensitive Cochlea: A Computational Modeling Study. ( 27380177 )
2016
37
CoDA: Collaborative Data Aggregation in Emerging Sensor Networks Using Bio-Level Voronoi Diagrams. ( 27527181 )
2016
38
EVIDENCE BASED DENTISTRY AND CODA REQUIREMENTS. ( 29474019 )
2016
39
Measuring the economic costs of discrimination experienced by people with mental health problems: development of the Costs of Discrimination Assessment (CODA). ( 25322960 )
2015
40
Enhanced depth imaging optical coherence tomography of congenital cavitary optic disc anomaly (CODA). ( 25359902 )
2015
41
The prosodic licensing of coda consonants in early speech: interactions with vowel length. ( 26017220 )
2015
42
A bacterial gene codA encoding cytosine deaminase is an effective conditional negative selectable marker in Glycine max. ( 26082433 )
2015
43
The codA gene as a negative selection marker in Citrus. ( 26090311 )
2015
44
Measurements of ultrasonic diffusivity and transport speed from coda waves in a resonant multiple scattering medium. ( 26233014 )
2015
45
Highly efficient editing of the actinorhodin polyketide chain length factor gene in Streptomyces coelicolor M145 using CRISPR/Cas9-CodA(sm) combined system. ( 26318449 )
2015
46
Half a century of cross-cultural psychology: A grateful coda. ( 26618979 )
2015
47
Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. ( 24932988 )
2014
48
A mutated cytosine deaminase gene, codA (D314A), as an efficient negative selection marker for gene targeting in rice. ( 24371307 )
2014
49
Coda optimization in the segmentation of English polysyllabic letter-strings. ( 25217342 )
2014
50
Extracting changes in air temperature using acoustic coda phase delays. ( 25324115 )
2014

Variations for Cavitary Optic Disc Anomalies

ClinVar genetic disease variations for Cavitary Optic Disc Anomalies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177)x4 copy number gain Pathogenic GRCh37 Chromosome 12, 56238827: 56244961
2 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177)x4 copy number gain Pathogenic GRCh38 Chromosome 12, 55845043: 55851177
3 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177) copy number gain Pathogenic GRCh37 Chromosome 12, 56238827: 56244961
4 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177) copy number gain Pathogenic GRCh38 Chromosome 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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