CODA
MCID: CVT001
MIFTS: 31

Cavitary Optic Disc Anomalies (CODA) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Cavitary Optic Disc Anomalies

Aliases & Descriptions for Cavitary Optic Disc Anomalies:

Name: Cavitary Optic Disc Anomalies 54 66 29 13 69
Familial Cavitary Optic Disc Anomaly 56
Eye Diseases, Hereditary 42
Familial Coda 56
Coda 66

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 611543
Orphanet 56 ORPHA464760
MedGen 40 C1969063
MeSH 42 D015785

Summaries for Cavitary Optic Disc Anomalies

UniProtKB/Swiss-Prot : 66 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 disc 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 familial cavitary optic disc anomaly, is related to codas syndrome and cerebritis, and has symptoms including reduced visual acuity, visual field defect and nyctalopia. An important gene associated with Cavitary Optic Disc Anomalies is MMP19 (Matrix Metallopeptidase 19). The drugs Bimatoprost and Latanoprost have been mentioned in the context of this disorder. Affiliated tissues include eye.

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:

id Related Disease Score Top Affiliating Genes
1 codas syndrome 12.4
2 cerebritis 10.0
3 myopathy, congenital, compton-north 9.6 CODA LONP1 MMP19

Symptoms & Phenotypes for Cavitary Optic Disc Anomalies

Clinical features from OMIM:

611543

Human phenotypes related to Cavitary Optic Disc Anomalies:

32
id Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 visual field defect 32 HP:0001123
3 nyctalopia 32 HP:0000662

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 429)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bimatoprost Approved, Investigational Phase 4,Phase 3,Early Phase 1 155206-00-1 5311027
2
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
3
Timolol Approved Phase 4,Phase 2 26839-75-8 33624 5478
4
Travoprost Approved Phase 4 157283-68-6 5282226
5
Propylthiouracil Approved Phase 4,Phase 3 51-52-5 657298
6
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
8
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
9
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
10
Ephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 299-42-3 9294
11
Pseudoephedrine Approved Phase 4,Phase 2,Phase 3,Phase 1 90-82-4 7028
12
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
13
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
14
Methotrexate Approved Phase 4,Phase 2 1959-05-2, 59-05-2 126941
15
Acetylcholine Approved Phase 4,Phase 2,Phase 3 51-84-3 187
16
Loteprednol Approved Phase 4 82034-46-6, 129260-79-3 444025 9865442
17
Dinoprost Tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
18
Diclofenac Approved, Vet_approved Phase 4,Phase 3 15307-86-5 3033
19
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
20
Propranolol Approved, Investigational Phase 4 525-66-6 4946
21
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
22
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
23
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 616-91-1 12035
24
Cysteamine Approved, Investigational Phase 4,Phase 2,Phase 1 60-23-1 6058
25
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
26
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
27
Zinc Approved Phase 4,Phase 2,Phase 3 7440-66-6 32051 23994
28 Zinc sulfate Approved Phase 4 7733-02-0
29
Montelukast Approved Phase 4 158966-92-8 5281040
30
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3 9004-61-9 53477741 24759
31 Idebenone Approved, Investigational Phase 4,Phase 3,Phase 2 58186-27-9
32
rituximab Approved Phase 4,Phase 2,Phase 3,Phase 1 174722-31-7 10201696
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Early Phase 1 59-30-3 6037
34
leucovorin Approved, Nutraceutical Phase 4,Phase 2 58-05-9 54575, 6560146 143
35
Tretinoin Approved, Investigational, Nutraceutical Phase 4 302-79-4 5538
36
Maleic acid Experimental Phase 4 110-16-7 444266
37 Adrenergic Agents Phase 4,Phase 1,Phase 2
38 Adrenergic Antagonists Phase 4,Phase 2
39 Adrenergic beta-Antagonists Phase 4,Phase 2
40 Anti-Arrhythmia Agents Phase 4,Phase 2,Phase 1
41 Antihypertensive Agents Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1
42 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
43 Ophthalmic Solutions Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
44 Tetrahydrozoline Phase 4,Phase 2,Phase 3,Phase 1
45 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
46 Antithyroid Agents Phase 4,Phase 3
47 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
48 Hormones Phase 4,Phase 2,Phase 3,Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
50 Antiemetics Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 599)
id Name Status NCT ID Phase
1 The Secondary Beneficial Effects of Prostaglandin Analog Treatment in Thyroid Eye Disease Patients. Unknown status NCT01927406 Phase 4
2 The Effect of Early Total Thyroidectomy in the Course of Graves' Orbitopathy Unknown status NCT01056419 Phase 4
3 A Prospective, Randomized Trial of Intravenous Pulse Versus Sequential Steroid Therapy for Patients With Graves' Orbitopathy Unknown status NCT01969019 Phase 4
4 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
5 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
6 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4
7 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4
8 Comparison of Corticosteroid Dosing Regimens After Endothelial Keratoplasty Completed NCT01853696 Phase 4
9 Fuchs' Torsional Phaco Study Completed NCT00781027 Phase 4
10 Prostaglandin F2-alpha Eye Drops in Thyroid Eye Disease (Bima Study) Completed NCT02059655 Phase 4
11 Adjuvant Treatment of Graves´ Ophthalmopathy With NSAID (aGO Study) Completed NCT01458600 Phase 4
12 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4
13 The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction Completed NCT00717080 Phase 4
14 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
15 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
16 Vibration-Assisted Anaesthesia Completed NCT00793988 Phase 4
17 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4
18 Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation Completed NCT00336531 Phase 4
19 Atazanavir/Ritonavir and Zinc Pharmacokinetic Study Completed NCT01475227 Phase 4
20 Montelukast as a Controller of Atopic Syndrome Completed NCT00559546 Phase 4
21 Hyaluronic Acid Gels for Upper Lid Retraction in Active Stage Thyroid Eye Disease Recruiting NCT01738243 Phase 4
22 Study to Assess the Efficacy and Safety of Raxone in LHON Patients Recruiting NCT02774005 Phase 4
23 Using A Novel Classification System in Intravenous GCs Therapy of TAO: A Multi-central, Randomized, Open, Superior Trial Recruiting NCT03107078 Phase 4
24 Rituximab (RTX) Therapy in Patients With Active TAO Recruiting NCT02378298 Phase 4
25 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4
26 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4
27 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Not yet recruiting NCT02339142 Phase 4
28 A Trial to Evaluate the Efficacy of Orbital Radiotherapy in Graves' Orbitopathy Not yet recruiting NCT03098225 Phase 4
29 Effects of Statins in Graves' Orbitopathy (GO) in Hypercholesterolemic Patients Not yet recruiting NCT03110848 Phase 4
30 Saline vs. Lactated Ringers for Emergency Department IV Fluid Resuscitation Not yet recruiting NCT03133767 Phase 4
31 Cacicol20® in Corneal Wound Healing and Nerve Regeneration After Phototherapeutic Keratectomy Terminated NCT02373397 Phase 4
32 Use of Botox in the Management of Thyroid Related Upper Eyelid Retraction Withdrawn NCT01272414 Phase 4
33 Effect of Percutaneous Botulinum Toxin A Injection on Natural Course of Upper Lid Retraction in Thyroid Eye Disease Unknown status NCT00370734 Phase 2, Phase 3
34 Treatment of Soft Tissue Expansion in Inactive Thyroid Eye Disease Patients Using Drops of Prostaglandin Analogues Unknown status NCT02155049 Phase 3
35 Prednisone Versus Doxycycline in the Treatment of Graves' Orbitopathy Unknown status NCT01809444 Phase 2, Phase 3
36 Interferon-alpha2a Versus Cyclosporin A for Severe Ocular Behcet`s Disease (INCYTOB) Unknown status NCT00167583 Phase 3
37 Use of Probiotic Bacteria in Prevention of Allergic Disease in Children 1999-2008 Unknown status NCT00298337 Phase 2, Phase 3
38 A Randomized, Double-blind, Placebo-controlled Trial of Curcumin in Leber's Hereditary Optic Neuropathy (LHON) Completed NCT00528151 Phase 3
39 Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A Completed NCT00346333 Phase 3
40 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3
41 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3
42 Tocilizumab Treatment in Graves´ Ophthalmopathy (Graves´ Orbitopathy or Thyroid Eye Disease) Completed NCT01297699 Phase 3
43 Trial of Rituximab for Graves' Ophthalmopathy Completed NCT00595335 Phase 2, Phase 3
44 Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care Completed NCT00023192 Phase 3
45 Phase III Study in Refractory Behcet's Disease Completed NCT00995709 Phase 3
46 Efficacy of Humira in Behcet Patients With Arthritis Completed NCT01497717 Phase 3
47 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3
48 An Extension of Study Fx-005 Evaluating Long-Term Safety And Clinical Outcomes Of Fx-1006A In Patients With Transthyretin Amyloid Polyneuropathy Completed NCT00791492 Phase 2, Phase 3
49 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3
50 A Study of Adalimumab in Japanese Subjects With Intestinal Behçet's Disease Completed NCT01243671 Phase 3

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:

id Genetic test Affiliating Genes
1 Cavitary Optic Disc Anomalies 29

Anatomical Context for Cavitary Optic Disc Anomalies

MalaCards organs/tissues related to Cavitary Optic Disc Anomalies:

39
Eye

Publications for Cavitary Optic Disc Anomalies

Articles related to Cavitary Optic Disc Anomalies:

id Title Authors Year
1
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. ( 25581579 )
2015
2
Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. ( 24932988 )
2014
3
The spectrum of cavitary optic disc anomalies in a family. ( 2710526 )
1989

Variations for Cavitary Optic Disc Anomalies

ClinVar genetic disease variations for Cavitary Optic Disc Anomalies:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LONP1 NM_004793.3(LONP1): c.2353A> G (p.Arg785Gly) single nucleotide variant Pathogenic rs730880293 GRCh38 Chromosome 19, 5693737: 5693737
2 LONP1 NM_004793.3(LONP1): c.2026C> T (p.Pro676Ser) single nucleotide variant Pathogenic rs879255247 GRCh37 Chromosome 19, 5694900: 5694900
3 LONP1 NM_004793.3(LONP1): c.1892C> A (p.Ser631Tyr) single nucleotide variant Pathogenic rs879255248 GRCh37 Chromosome 19, 5696264: 5696264
4 LONP1 NM_004793.3(LONP1): c.2171C> T (p.Ala724Val) single nucleotide variant Pathogenic rs879255249 GRCh38 Chromosome 19, 5694536: 5694536
5 MMP19 GRCh38/hg38 12q13.2(chr12: 55845043-55851177)x4 copy number gain Pathogenic GRCh38 Chromosome 12, 55845043: 55851177
6 MMP19 NC_000012.12: g.55845043_55851177[3] undetermined variant 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

Biological processes related to Cavitary Optic Disc Anomalies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 8.96 LONP1 MMP19
2 response to hormone GO:0009725 8.62 LONP1 MMP19

Molecular functions related to Cavitary Optic Disc Anomalies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 8.96 LONP1 MMP19
2 serine-type endopeptidase activity GO:0004252 8.62 LONP1 MMP19

Sources for Cavitary Optic Disc Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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