CRD1
MCID: CNR003
MIFTS: 25

Cone-Rod Dystrophy 1 (CRD1) malady

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Cone-Rod Dystrophy 1

Aliases & Descriptions for Cone-Rod Dystrophy 1:

Name: Cone-Rod Dystrophy 1 12 50 24 29 69
Cord1 12 50
Retinitis Pigmentosa 1 69
Crd1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0111009

Summaries for Cone-Rod Dystrophy 1

Disease Ontology : 12 A cone-rod dystrophy that has material basis in variation in the chromosome region 18q21.1-q21.3.

MalaCards based summary : Cone-Rod Dystrophy 1, also known as cord1, is related to cone-rod dystrophy and cone-rod dystrophy, x-linked, 1. An important gene associated with Cone-Rod Dystrophy 1 is RPGR (Retinitis Pigmentosa GTPase Regulator). The drugs Antioxidants and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is Increased shRNA abundance (Z-score > 2).

Related Diseases for Cone-Rod Dystrophy 1

Diseases related to Cone-Rod Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 11.6
2 cone-rod dystrophy, x-linked, 1 11.1
3 hypertrichotic osteochondrodysplasia 9.8 RP1 RPGR
4 polyhydramnios 9.8 RP1 RPGR
5 epidural spinal canal angiolipoma 9.8 RP1 RPGR
6 van buchem disease 9.7 CORD1 RPGR
7 cadasil 2 9.6 CORD1 RP1 RPGR

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 1:



Diseases related to Cone-Rod Dystrophy 1

Symptoms & Phenotypes for Cone-Rod Dystrophy 1

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.4 RPGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.4 RPGR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.4 RP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.4 RPGR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.4 RP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.4 RPGR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.4 RP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.4 RPGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.4 RPGR RP1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.4 RPGR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.4 RPGR

Drugs & Therapeutics for Cone-Rod Dystrophy 1

Drugs for Cone-Rod Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 78)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antioxidants Phase 2, Phase 3,Phase 1
2 Micronutrients Phase 2, Phase 3,Phase 1,Early Phase 1
3 Protective Agents Phase 2, Phase 3,Phase 1
4 Trace Elements Phase 2, Phase 3,Phase 1,Early Phase 1
5 Vitamins Phase 2, Phase 3,Phase 1,Early Phase 1
6 Carotenoids Phase 2, Phase 3,Phase 1
7 Beta Carotene Nutraceutical Phase 2, Phase 3,Phase 1
8
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
9
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
10
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
11
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
12
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
13
Carbidopa Approved Phase 2 28860-95-9 34359 38101
14
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
15
Levodopa Approved Phase 2 59-92-7 6047
16
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
17
Lutein Approved, Nutraceutical Phase 1, Phase 2 127-40-2 6433159 5368396
18 Autonomic Agents Phase 1, Phase 2
19 Mitogens Phase 1, Phase 2
20 Nasal Decongestants Phase 1, Phase 2
21 Ophthalmic Solutions Phase 1, Phase 2
22 Peripheral Nervous System Agents Phase 1, Phase 2
23 Pharmaceutical Solutions Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Tetrahydrozoline Phase 1, Phase 2
26 Vasoconstrictor Agents Phase 1, Phase 2
27 Anti-Bacterial Agents Phase 1, Phase 2
28 Anti-Infective Agents Phase 1, Phase 2
29 Adrenergic Agents Phase 1, Phase 2
30 Adrenergic Agonists Phase 1, Phase 2
31 Adrenergic alpha-2 Receptor Agonists Phase 1, Phase 2
32 Adrenergic alpha-Agonists Phase 1, Phase 2
33 Antihypertensive Agents Phase 1, Phase 2
34 Brimonidine Tartrate Phase 1, Phase 2 70359-46-5
35 Neurotransmitter Agents Phase 1, Phase 2
36 cadexomer iodine Phase 2,Phase 1
37
Iodine Phase 2,Phase 1 7553-56-2 807
38 Povidone Phase 2,Phase 1
39 Proxymetacaine Phase 2,Phase 1
40 Adjuvants, Immunologic Phase 2,Phase 1
41 Antiparkinson Agents Phase 2
42 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
43 Carbidopa, levodopa drug combination Phase 2
44 Dihydroxyphenylalanine Phase 2
45 Dopamine Agents Phase 2
46 Dopamine agonists Phase 2
47 Anesthetics Phase 2
48 Antiviral Agents Phase 1, Phase 2
49 Interferon-gamma Phase 1, Phase 2
50 interferons Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 80)
id Name Status NCT ID Phase
1 The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction Completed NCT00717080 Phase 4
2 CLARIX™ 100 & CLARIX CORD 1K for Discectomy Patients Recruiting NCT03113786 Phase 4
3 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
4 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
5 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2
6 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2
7 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2
8 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2
9 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2
10 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2
11 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2
12 Feasibility Study of a Chronic Retinal Stimulator in Retinitis Pigmentosa Completed NCT00279500 Phase 1, Phase 2
13 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
14 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
15 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 1, Phase 2
16 RST-001 Phase I/II Trial for Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2
17 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2
18 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Recruiting NCT03073733 Phase 2
19 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
20 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2
21 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Recruiting NCT02739217 Phase 2
22 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
23 Gene Therapy for Blindness Caused by Choroideremia Active, not recruiting NCT01461213 Phase 1, Phase 2
24 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2
25 Electro-acupuncture and Transcorneal Electrical Stimulation (TES) for the Treatment of Vision Loss Due to Retinitis Pigmentosa Active, not recruiting NCT02086890 Phase 1, Phase 2
26 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Active, not recruiting NCT02320812 Phase 1, Phase 2
27 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
28 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2
29 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
30 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2
31 Feasibility and Safety of Adult Human Bone Marrow-derived Mesenchymal Stem Cells by Intravitreal Injection in Patients With Retinitis Pigmentosa Unknown status NCT01531348 Phase 1
32 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01068561 Phase 1
33 Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65) Completed NCT01543906 Phase 1
34 Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations Completed NCT01014052 Phase 1
35 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1
36 Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye Completed NCT00063765 Phase 1
37 Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa Completed NCT01604356 Phase 1
38 Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 Phase 1
39 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1
40 The FIGHT-RP1 Study Recruiting NCT03063021 Phase 1
41 Retinal Imaging in Patients With Inherited Retinal Degenerations Recruiting NCT00254605 Phase 1
42 Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations Recruiting NCT01482195 Phase 1
43 Argus II Retinal Prosthesis System Dry AMD Feasibility Study Protocol Recruiting NCT02227498 Phase 1
44 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1
45 Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for Retinopathy Enrolling by invitation NCT01736059 Phase 1
46 A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa Terminated NCT00458575 Phase 1
47 NEOX® CORD 1K vs Standard of Care in Non-healing Diabetic Foot Ulcers Unknown status NCT02166294
48 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
49 TES for the Treatment of RP Completed NCT01847365
50 Stress and Vision Fluctuations in Retinitis Pigmentosa Completed NCT00475254 Early Phase 1

Search NIH Clinical Center for Cone-Rod Dystrophy 1

Genetic Tests for Cone-Rod Dystrophy 1

Genetic tests related to Cone-Rod Dystrophy 1:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 1 29 24 RPGR

Anatomical Context for Cone-Rod Dystrophy 1

MalaCards organs/tissues related to Cone-Rod Dystrophy 1:

39
Eye

Publications for Cone-Rod Dystrophy 1

Variations for Cone-Rod Dystrophy 1

Expression for Cone-Rod Dystrophy 1

Search GEO for disease gene expression data for Cone-Rod Dystrophy 1.

Pathways for Cone-Rod Dystrophy 1

GO Terms for Cone-Rod Dystrophy 1

Cellular components related to Cone-Rod Dystrophy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 8.96 RP1 RPGR
2 photoreceptor outer segment GO:0001750 8.62 RP1 RPGR

Biological processes related to Cone-Rod Dystrophy 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.16 RP1 RPGR
2 visual perception GO:0007601 8.96 RP1 RPGR
3 cell projection organization GO:0030030 8.62 RP1 RPGR

Sources for Cone-Rod Dystrophy 1

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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