CODA
MCID: CVT001
MIFTS: 35

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 75 29 13 6 73
Coda 57 75
Familial Cavitary Optic Disc Anomaly 59
Eye Diseases, Hereditary 44
Familial Coda 59

Characteristics:

OMIM:

57
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:

32
cavitary optic disc anomalies:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611543
Orphanet 59 ORPHA464760
MedGen 42 C1969063
MeSH 44 D015785
UMLS 73 C1969063

Summaries for Cavitary Optic Disc Anomalies

UniProtKB/Swiss-Prot : 75 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, retina and testes, and related phenotypes are reduced visual acuity and nyctalopia

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 spondylosis 10.0
7 syphilis 10.0
8 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cavitary Optic Disc Anomalies:

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

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 29 MMP19

Anatomical Context for Cavitary Optic Disc Anomalies

MalaCards organs/tissues related to Cavitary Optic Disc Anomalies:

41
Eye, Retina, Testes

Publications for Cavitary Optic Disc Anomalies

Articles related to Cavitary Optic Disc Anomalies:

(show top 50) (show all 124)
# Title Authors Year
1
Role of the Epipapillary Membrane in Maculopathy Associated with Cavitary Optic Disc Anomalies: Morphology, Surgical Outcomes, and Histopathology. ( 29854427 )
2018
2
Inflammatory biomarkers and radiologic measurements in never-smokers with COPD: A cross-sectional study from the CODA cohort. ( 29117798 )
2018
3
Reliability and validity of a Coda Motion 3-D Analysis system for measuring cervical range of motion in healthy subjects. ( 29169054 )
2018
4
Author Correction: CODA: Integrating multi-level context-oriented directed associations for analysis of drug effects. ( 29343846 )
2018
5
Publisher Correction: CODA: Integrating multi-level context-oriented directed associations for analysis of drug effects. ( 29511315 )
2018
6
The role of gesture delay in coda /r/ weakening: An articulatory, auditory and acoustic study. ( 29604687 )
2018
7
Mass, height of burst, and source-receiver distance constraints on the acoustic coda phase delay method. ( 29716266 )
2018
8
The Construct Validity of the CODA and Repeated Sprint Ability Tests in Football Referees. ( 29902810 )
2018
9
Processing Ultrasonic Data by Coda Wave Interferometry to Monitor Load Tests of Concrete Beams. ( 29921820 )
2018
10
Comparison of Outcomes of antibiotic Drugs and Appendectomy (CODA) trial: a protocol for the pragmatic randomised study of appendicitis treatment. ( 29146633 )
2017
11
Nonlinear coda wave interferometry for the global evaluation of damage levels in complex solids. ( 27693600 )
2017
12
Bio-CoDa: A new analysis class to ensure accurate and precise monoclonal antibody CQA estimation and control. ( 28436003 )
2017
13
Frequency selection for coda wave interferometry in concrete structures. ( 28463745 )
2017
14
Laboratory studies of ultrasonic wave response of fractures with different lengths: Anisotropy characteristics and coda analysis. ( 28528218 )
2017
15
Graduate Periodontics Programs' Integration of Implant Provisionalization in Core Curricula: Implementation of CODA Standard 4-10.2.d. ( 28572416 )
2017
16
Dynamic acousto-elastic testing of concrete with a coda-wave probe: comparison with standard linear and nonlinear ultrasonic techniques. ( 28578221 )
2017
17
CODA: Integrating multi-level context-oriented directed associations for analysis of drug effects. ( 28790372 )
2017
18
An application of the Continuous Opinions and Discrete Actions (CODA) model to adolescent smoking initiation. ( 29020024 )
2017
19
STI Versus STD: Coda. ( 29023286 )
2017
20
Evaluation of crack status in a meter-size concrete structure using the ultrasonic nonlinear coda wave interferometry. ( 29092560 )
2017
21
Interprofessional Education in Dental Hygiene Programs and CODA Standards: Dental Hygiene Program Directors' Perspectives. ( 29118251 )
2017
22
Material State Awareness for Composites Part I: Precursor Damage Analysis Using Ultrasonic Guided Coda Wave Interferometry (CWI). ( 29258179 )
2017
23
Coda reconstruction from cross-correlation of a diffuse field on thin elastic plates. ( 29346881 )
2017
24
Transgenic poplar expressing codA exhibits enhanced growth and abiotic stress tolerance. ( 26795732 )
2016
25
Dynamic hyperarticulation of coda voicing contrasts. ( 26936581 )
2016
26
Differences in coda voicing trigger changes in gestural timing: A test case from the American English diphthong /aɪ/. ( 26966337 )
2016
27
SOCIAL SCIENCE. Ironic coda to fraudulent study of bias. ( 27124431 )
2016
28
Phonetic Encoding of Coda Voicing Contrast under Different Focus Conditions in L1 vs. L2 English. ( 27242571 )
2016
29
The Coda of the Transient Response in a Sensitive Cochlea: A Computational Modeling Study. ( 27380177 )
2016
30
CoDA: Collaborative Data Aggregation in Emerging Sensor Networks Using Bio-Level Voronoi Diagrams. ( 27527181 )
2016
31
EVIDENCE BASED DENTISTRY AND CODA REQUIREMENTS. ( 29474019 )
2016
32
Measuring the economic costs of discrimination experienced by people with mental health problems: development of the Costs of Discrimination Assessment (CODA). ( 25322960 )
2015
33
Enhanced depth imaging optical coherence tomography of congenital cavitary optic disc anomaly (CODA). ( 25359902 )
2015
34
The prosodic licensing of coda consonants in early speech: interactions with vowel length. ( 26017220 )
2015
35
A bacterial gene codA encoding cytosine deaminase is an effective conditional negative selectable marker in Glycine max. ( 26082433 )
2015
36
The codA gene as a negative selection marker in Citrus. ( 26090311 )
2015
37
Measurements of ultrasonic diffusivity and transport speed from coda waves in a resonant multiple scattering medium. ( 26233014 )
2015
38
Highly efficient editing of the actinorhodin polyketide chain length factor gene in Streptomyces coelicolor M145 using CRISPR/Cas9-CodA(sm) combined system. ( 26318449 )
2015
39
Half a century of cross-cultural psychology: A grateful coda. ( 26618979 )
2015
40
Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. ( 24932988 )
2014
41
A mutated cytosine deaminase gene, codA (D314A), as an efficient negative selection marker for gene targeting in rice. ( 24371307 )
2014
42
Coda optimization in the segmentation of English polysyllabic letter-strings. ( 25217342 )
2014
43
Extracting changes in air temperature using acoustic coda phase delays. ( 25324115 )
2014
44
Overexpression of codA gene confers enhanced tolerance to abiotic stresses in alfalfa. ( 25394798 )
2014
45
Efficient methods for targeted mutagenesis in zebrafish using zinc-finger nucleases: data from targeting of nine genes using CompoZr or CoDA ZFNs. ( 23451191 )
2013
46
Importance of codB for new codA-based markerless gene deletion in Gluconobacter strains. ( 23955475 )
2013
47
Obituary for Andrea Coda. ( 24057993 )
2013
48
The choline oxidase gene codA confers salt tolerance to transgenic Eucalyptus globulus in a semi-confined condition. ( 22752644 )
2013
49
Validation of a thermal bias control technique for Coda Wave Interferometry (CWI). ( 22963828 )
2013
50
Study of stress-induced velocity variation in concrete under direct tensile force and monitoring of the damage level by using thermally-compensated Coda Wave Interferometry. ( 22989948 )
2012

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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