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CORD2
MCID: CNR004
MIFTS: 75

Cone-Rod Dystrophy 2 (CORD2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Cone-Rod Dystrophy 2

About this section

MalaCards integrated aliases for Cone-Rod Dystrophy 2:

Name: Cone-Rod Dystrophy 2 57 12 20 72 29 6 15 37 70
Cone-Rod Dystrophy 57 12 73 20 43 29 54 6 15
Cord2 57 12 20 72
Cone-Rod Retinal Dystrophy 2 12 20 72
Cone-Rod Retinal Dystrophy 57 12 43
Rcrd2 57 12 20
Crd2 12 20 72
Cone-Rod Retinal Dystrophy-2 57 13
Retinal Cone-Rod Dystrophy 2 12 20
Retinal Cone-Rod Dystrophy 57 43
Tapetoretinal Degeneration 43 6
Cone-Rod Degeneration 43 6
Cord 57 43
Crd 57 43
Cone-Rod Retinal Dystrophy; Crd; Crd2 57
Retinal Cone-Rod Dystrophy; Rcrd2 57
Progressive Cone-Rod Dystrophy 70
Dystrophy, Cone-Rod, Type 2 39
Cone-Rod Dystrophy; Cord 57
Retinitis Pigmentosa 2 70
Retinitis Pigmentosa 70
Dystrophy, Cone-Rod 39
Cone Rod Dystrophy 58

Characteristics:

Orphanet epidemiological data:

58
cone rod dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant (19q13.1-q13.2)


HPO:

31
cone-rod dystrophy 2:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050572 DOID:0111005
OMIM® 57 120970
OMIM Phenotypic Series 57 PS120970
MeSH 44 D058499
ICD10 32 H35.5
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA1872
UMLS 70 C0035334 C0339530 C2681923 more
Sources

Summaries for Cone-Rod Dystrophy 2

About this section
MedlinePlus Genetics : 43 Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

MalaCards based summary : Cone-Rod Dystrophy 2, also known as cone-rod dystrophy, is related to cone-rod dystrophy 6 and cone-rod dystrophy 3. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. The drugs Ketorolac and Ampicillin have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are abnormality of retinal pigmentation and photophobia

Disease Ontology : 12 A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.

GARD : 20 Cone-rod dystrophy (CRD) is a group of inherited eye disorders that affect the light sensitive cells of the retina called the cones and rods. People with this condition experience vision loss over time as the cones and rods deteriorate. Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity) and abnormal sensitivity to light (photophobia). These signs are usually followed by blind spots in the central field of vision (scotomas), loss of color perception, and loss of peripheral vision. Most individuals with this condition are legally blind by mid adulthood. There are over 30 types of CRD caused by mutations in several different genes that can be inherited in many different ways including autosomal recessive, autosomal dominant, X-linked or mitochondrial patterns. CRDs are usually non-syndromic, but they may also be part of several syndromes. There is no cure for CRD; however, there may be ways to slow the disease process. Depending on the underlying cause of CRD and other associated symptoms, research may be ongoing to try to identify an effective treatment.

OMIM® : 57 Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). (120970) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Cone-rod dystrophy 2: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Wikipedia : 73 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Sources

Related Diseases for Cone-Rod Dystrophy 2

About this section

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3254)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 6 34.6 RPGRIP1 RPGR PRPH2 GUCY2D GUCA1A CNGA3
2 cone-rod dystrophy 3 34.2 GUCY2D CRX CACNA1F ABCA4
3 cone-rod dystrophy 12 34.1 RIMS1 PROM1 GUCY2D GUCA1A
4 retinitis pigmentosa 34.1 TTLL5 RPGRIP1 RPGR RIMS1 RAB28 PRPH2
5 cone-rod dystrophy, x-linked, 3 34.1 RPGR CACNA2D4 CACNA1F
6 cone-rod dystrophy 18 34.0 TTLL5 RAB28 POC1B
7 fundus dystrophy 34.0 TTLL5 RPGRIP1 RPGR RIMS1 RAB28 PRPH2
8 cone-rod dystrophy 5 33.9 RIMS1 GUCY2D
9 cone-rod dystrophy 13 33.8 RPGRIP1 RPGR
10 cone-rod dystrophy 9 33.8 GUCY2D ADAM9
11 cone-rod dystrophy, x-linked, 1 33.7 RPGR CACNA1F
12 cone-rod dystrophy 17 33.7 RIMS1 GUCY2D
13 cone-rod dystrophy 8 33.7 GUCY2D CNGA3
14 cone dystrophy 3 33.6 GUCA1A CACNA2D4
15 leber plus disease 33.5 RPGRIP1 RPGR RIMS1 RAB28 PRPH2 PROM1
16 leber congenital amaurosis 1 33.4 RPGRIP1 PRPH2 PROM1 GUCY2D GUCA1A CRX
17 leber congenital amaurosis 4 33.4 RPGRIP1 GUCY2D CRX
18 cone-rod dystrophy, x-linked, 2 33.4 RPGR CACNA1F
19 cone-rod dystrophy 16 33.4 TTLL5 RAB28 POC1B DRAM2 CACNA2D4 C8orf37
20 cone dystrophy 33.4 TTLL5 RPGRIP1 RPGR PRPH2 PROM1 POC1B
21 bardet-biedl syndrome 33.4 RPGRIP1 RPGR PRPH2 GUCY2D CRX C8orf37
22 retinal degeneration 33.1 RPGRIP1 RPGR PRPH2 PROM1 GUCY2D GUCA1A
23 leber congenital amaurosis 10 33.0 RPGRIP1 RPGR GUCY2D CRX
24 retinal disease 33.0 RPGRIP1 RPGR RIMS1 PRPH2 GUCY2D GUCA1A
25 leber congenital amaurosis 3 32.9 RPGRIP1 GUCY2D CRX
26 achromatopsia 32.8 TTLL5 RPGRIP1 RPGR RAB28 PRPH2 GUCY2D
27 stargardt disease 32.7 RPGR PRPH2 PROM1 GUCY2D GUCA1A CRX
28 retinitis 32.6 RPGRIP1 RPGR PRPH2 ABCA4
29 congenital stationary night blindness 32.5 RPGRIP1 RPGR RIMS1 PRPH2 GUCY2D GUCA1A
30 pathologic nystagmus 32.4 RPGRIP1 RPGR GUCY2D CRX CNGA3 CACNA1F
31 joubert syndrome 1 32.4 RPGRIP1 RPGR POC1B GUCY2D CRX C8orf37
32 macular degeneration, age-related, 1 32.4 RPGR PRPH2 PROM1 GUCY2D CRX CNGA3
33 night blindness 32.3 RPGR PRPH2 GUCY2D CACNA1F ABCA4
34 usher syndrome 32.3 RPGRIP1 RPGR PRPH2 PROM1 GUCY2D GUCA1A
35 gyrate atrophy of choroid and retina 32.2 RPGR RIMS1 PRPH2 ABCA4
36 stargardt disease 1 32.1 PRPH2 PROM1 CRX ABCA4
37 scotoma 32.1 RPGR GUCY2D GUCA1A CNGA3 ABCA4
38 eye disease 32.0 RPGRIP1 RPGR PRPH2 GUCY2D CRX CNGA3
39 color blindness 32.0 RPGRIP1 RPGR GUCY2D CNGA3 ABCA4
40 senior-loken syndrome 1 32.0 TTLL5 RPGRIP1 RPGR PRPH2 POC1B GUCY2D
41 stargardt macular degeneration 31.8 RIMS1 PRPH2 ABCA4
42 yemenite deaf-blind hypopigmentation syndrome 31.7 GUCY2D ABCA4
43 achromatopsia 3 31.6 RPGRIP1 GUCY2D CNGA3 CACNA1F
44 leber congenital amaurosis 7 31.5 GUCY2D CRX
45 retinoschisis 1, x-linked, juvenile 31.4 RPGR GUCY2D CRX CNGA3 CACNA1F ABCA4
46 fundus albipunctatus 31.4 RPGR PRPH2 GUCY2D CRX CACNA1F ABCA4
47 hereditary retinal dystrophy 31.3 PRPH2 GUCY2D CRX ABCA4
48 color vision deficiency 31.3 RPGRIP1 CNGA3
49 retinitis pigmentosa 3 31.2 RPGRIP1 RPGR ABCA4
50 peripheral retinal degeneration 31.0 PRPH2 ABCA4

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 2:



Diseases related to Cone-Rod Dystrophy 2
Sources

Symptoms & Phenotypes for Cone-Rod Dystrophy 2

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Human phenotypes related to Cone-Rod Dystrophy 2:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
2 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
3 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
4 color vision defect 58 31 very rare (1%) Frequent (79-30%) HP:0000551
5 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
6 reduced visual acuity 31 very rare (1%) HP:0007663
7 constriction of peripheral visual field 31 very rare (1%) HP:0001133
8 metamorphopsia 31 very rare (1%) HP:0012508
9 macular hyperpigmentation 31 very rare (1%) HP:0011509
10 retinal pigment epithelial atrophy 31 very rare (1%) HP:0007722
11 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
12 blindness 31 HP:0000618
13 abnormal electroretinogram 31 HP:0000512
14 cone/cone-rod dystrophy 31 HP:0000548
15 peripheral visual field loss 31 HP:0007994
16 central scotoma 31 HP:0000603
17 chorioretinal atrophy 31 HP:0000533

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
peripheral visual field loss
chorioretinal atrophy
cone-rod retinal dystrophy
initial color vision and visual acuity loss
night blindness
more

Clinical features from OMIM®:

120970 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 ABCA4 C8orf37 CACNA1F CNGA3 CRX GUCA1A
2 pigmentation MP:0001186 9.56 ABCA4 ADAM9 CRX DRAM2 PROM1 PRPH2
3 vision/eye MP:0005391 9.53 ABCA4 ADAM9 C8orf37 CACNA1F CACNA2D4 CDHR1
Sources

Drugs & Therapeutics for Cone-Rod Dystrophy 2

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Drugs for Cone-Rod Dystrophy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 664)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
2
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
3
Sulbactam Approved Phase 4 68373-14-8
4
Sultamicillin Approved, Investigational Phase 4 76497-13-7
5
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
6
Zoledronic Acid Approved Phase 4 118072-93-8 68740
7
Ondansetron Approved Phase 4 99614-02-5 4595
8
Palonosetron Approved, Investigational Phase 4 119904-90-4, 135729-56-5 148211
9
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
10
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
11
Amitriptyline Approved Phase 4 50-48-6 2160
12
Perphenazine Approved Phase 4 58-39-9 4748
13
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
14
Darifenacin Approved, Investigational Phase 4 133099-04-4 444031
15
Ceftizoxime Approved, Withdrawn Phase 4 68401-81-0 6533629
16
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
17
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
18
Lactitol Approved, Investigational Phase 4 585-86-4 157355
19
Oxcarbazepine Approved Phase 4 28721-07-5 34312
20
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
21
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
22
Mecamylamine Approved, Investigational Phase 4 60-40-2 4032
23
Norepinephrine Approved Phase 4 51-41-2 439260
24
Droxidopa Approved, Investigational Phase 4 23651-95-8 443940
25
Denosumab Approved Phase 4 615258-40-7
26
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
27
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
28
Desflurane Approved Phase 4 57041-67-5 42113
29
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
30
Cycloserine Approved Phase 4 68-41-7 401 6234
31
Glucagon Approved Phase 4 16941-32-5
32
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
33
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
34
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
35
Racepinephrine Approved Phase 4 329-65-7 838
36
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
37
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
38
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
39
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
40
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
41
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
42
Vancomycin Approved Phase 4 1404-90-6 14969 441141
43
Fidaxomicin Approved Phase 4 873857-62-6
44
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
45
Simendan Investigational Phase 4 131741-08-7
46 Sildenafil Citrate Phase 4 171599-83-0
47 Ketorolac Tromethamine Phase 4
48 Omega 3 Fatty Acid Phase 4
49 Psychotropic Drugs Phase 4
50 Adrenergic alpha-Agonists Phase 4

Interventional clinical trials:

(show top 50) (show all 3079)
# Name Status NCT ID Phase Drugs
1 Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Unknown status NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
2 Changes of Gas Values in Cord Blood Versus Time and Temperature Unknown status NCT02785367 Phase 4
3 Anesthesia Induction With Propofol or Sevoflurane in Patients Undergoing Fiberoptic Intubation for Cervical Myelopathy: Effects on Heamodynamics Unknown status NCT01052337 Phase 4 anaesthetics: sevofluorane
4 The Effect of Preventional Drug Therapy on Pain Regulation Mechanisms Among Spinal Cord Injury Patients Who Have Yet to Develop Central Pain Unknown status NCT03748290 Phase 4 Pregabalin;Placebo Oral Tablet
5 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
6 An Open, Longitudinal, Prospective, Non-randomized, Self-Controlled Feasibility Study to Investigate the Effect of the ReWalkâ„¢ Device on Mobility Outcomes in Patients With Chronic Spinal Cord Injury. Unknown status NCT01943669 Phase 4
7 A Longitudinal Clinical Feasibility Study to Evaluate the Psychological and Functional Effects of Using the Tobiiâ„¢ Eyegaze System by Inpatients With Tetraplegia Unknown status NCT01943656 Phase 4
8 Child With Severe Aplastic Anemia (SAA) Therapy: the Injection of Umbilical Cord Derived Mesenchymal Stem Cells. Unknown status NCT02218437 Phase 4 MSC+ATG
9 Effect of Adding Azithromycin to Dexamethasone in Preventing Post-operative Nausea and Vomiting in Caesarean Section Under Spinal Anesthesia With Spinal Opiate. Unknown status NCT03165123 Phase 4 Oral Azithromycin tablet;Intravenous dexamethasone
10 A Prospective, Randomized, Control Trial of Ketorolac Versus Placebo on Opioid Analgesic Use and Complications Following Cesarean Delivery With Intra-Epidural Morphine Unknown status NCT02509312 Phase 4 Ketorolac;Epidural Morphine;Hydromorphone
11 The Effect of Preoperative and Post Operative Misoprostol Administration on Intraoperative Blood Loss and Postpartum Hemorrhage in CS Unknown status NCT03680339 Phase 4 Misoprostol;Oxytocin
12 Chronic Significant Pain and Functional Outcome After Laparoscopic Versus Open Groin Hernia Mesh Repair: Design of a Randomized Controlled Clinical Trial Unknown status NCT00625534 Phase 4
13 Investigator Initiated Trial- Management of Chronic Pain in Military Patients With Injuries Sustained During Active Duty. Comparison of Spinal Cord Stimulation and Comprehensive Medical Management Unknown status NCT01616342 Phase 4
14 Comparison of Two Induction Regimens Using Topical Lidocaine or Muscle Relaxant; Impact on Postoperative Sore Throat and Haemodynamics Unknown status NCT03031808 Phase 4 Lidocaine spray (2%);Muscle Relaxant (Rocuronium)
15 Avanafil Versus Sildenafil in Spinal Cord Injury Erectile Dysfunction: Non- Inferiority, Randomized, Crossover, Open Clinical Trial Unknown status NCT03169582 Phase 4 Avanafil;Sildenafil
16 Assessment of Pregabalin Efficacy for the Treatment and Prevention of At-level Non-evoked and Evoked Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4 Pregabalin;Placebo
17 Multi-Centre, Prospective, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Vardenafil in Men With Erectile Dysfunction Caused by Spinal Cord Injury Unknown status NCT00725790 Phase 4 Vardenafil;Placebo
18 Early Nerve Reconstruction Approach in Tetraplegic Patients With Dysfunctional Upper Extremity: a Randomized Controlled Trial. Unknown status NCT01579604 Phase 4
19 The Efficacy of Denosumab to Reduce Osteoporosis After Spinal Cord Injury Unknown status NCT01983475 Phase 4 Denosumab;Placebo (identical Denosumab volume of normal saline)
20 Pilot Study About Viability and Efficacy of Intrabone Administration of Umbilical Cord Blood for Allogeneic Stem Cell Transplantation Unknown status NCT00838019 Phase 4
21 Analgesic Efficacy of High Frequency Spinal Cord Stimulation: a Placebo-controlled Study Unknown status NCT01400282 Phase 4
22 Treatment Plan for Hematologic Malignancies Using Intravenous Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide to Examine Results, Success and Side Effects of Treatment With Chemotherapy Only, as a Preparative Therapy for Patients With Cord Blood Transplants Unknown status NCT01339988 Phase 4 Busulfan/Cyclophosphamide
23 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
24 Early and Late Results of Transinguinal Preperitoneal Patch Repair Versus Anterior Pre-Trasversalis Mesh Repair. A Randomised Study Completed NCT01350830 Phase 4
25 Efficacy of Amniotic Tissue (CLARIX 100 & CLARIX CORD 1K) in Pain Reduction and Improvement of Function in Low Back & Leg Pain in Discectomy Patients Completed NCT03113786 Phase 4
26 Ampicillin / Sulbactam Versus Cefuroxime as Antimicrobial Prophylaxis for Cesarean Section: a Randomized Study Completed NCT01138852 Phase 4 Ampicillin-sulbactam;Cefuroxime
27 Single Blinded, Randomized Control Trial of High Frequency Stimulation in Subjects With Precision® Spinal Cord Stimulator System to Assess Efficacy and Preferability in Back and Extremity Pain Relief Completed NCT02265848 Phase 4
28 Prospective Randomized, Double-blind, Controlled Trial Comparing Lichtenstein's Repair of Inguinal Hernia With Polypropylene Mesh Versus Surgisis ES Soft Tissue Graft Completed NCT00614419 Phase 4
29 Comparison of Two Doses of Carbetocin for Prevention of Uterine Atony During Elective Cesarean Section: a Randomized Controlled Trial Completed NCT01630187 Phase 4 Carbetocin;Carbetocin
30 Double Blinded Randomized Placebo Controlled Study in Evaluating the Effectiveness of IV Acetaminophen for Acute Post Operative Pain in C-Section Patients Completed NCT02069184 Phase 4 IV Acetaminophen
31 Prophylactic Antiemetic Efficacy of Palonosetron Versus Ondansetron for Cesarean Sections Under Regional Anesthesia: Study Single Center, Prospective, Double-blind, Randomized, Placebo Controlled Completed NCT02468323 Phase 4 Placebo;Ondansetron;Palonosetron
32 Buccal Misoprostol During Cesarean Section for Preventing Postpartum Hemorrhage in Women With Risk Factors for Uterine Atony Completed NCT01733329 Phase 4 Misoprostol;Folic Acid
33 Intravenous Nitroglycerin for Retained Placenta Extraction: a Multicenter Study Completed NCT00707928 Phase 4 nitroglycerine
34 Management of Chronic Pain in Rehabilitation Project I - Management of Chronic Pain in Persons With Spinal Cord Injury Completed NCT00006428 Phase 4 Amitriptyline
35 Botulinum Toxin A for the Treatment of Cervical/Shoulder Pain Following Acute Spinal Cord Injury. Completed NCT00320281 Phase 4 botulinum toxin A
36 Omega-3 Supplementation to Increase HDL-c Levels in Those With Tetraplegia Completed NCT01896037 Phase 4
37 Effects of Levetiracetam on Chronic Neuropathic Pain Following Spinal Cord Injury: a Randomized, Double-blind, Placebo-controlled, Cross-over, Multi-center Study Completed NCT00252954 Phase 4 Levetiracetam
38 Comparative Study of the Efficacy and Safety of Muscarinic M3 Receptors Antagonists in the Treatment of Neurogenic Detrusor Overactivity Completed NCT00800462 Phase 4 Oxybutynin Cl;Trospium Cl;Darifenacin Hydrogen Bromide (HBr)
39 A Placebo-Controlled, Randomized, Two-Way Cross-Over, Double-Blind, Flexible Dose, Multicenter Study to Evaluate the Efficacy and Safety of Viagra in Male Patients With Traumatic Spinal Cord Injury and Erectile Dysfunction Completed NCT00654082 Phase 4 sildenafil;placebo
40 The Effect of Botulinum Toxin A in Post Spinal Cord Injury Neuropathic Pain Completed NCT01579500 Phase 4 Botulinum toxin type A;normal saline
41 Bowel Care and Cardiovascular Function After Spinal Cord Injury Completed NCT01567605 Phase 4 Lidocaine lubricant
42 Evaluation of Initiation Time on the Efficacy of Gabapentin in Treating Neuropathic Pain in Spinal Cord Injury (SCI) Completed NCT04256603 Phase 4 Gabapentin
43 Efficacy and Safety of Bowel Preparations for Colonoscopy in SCI Completed NCT00745095 Phase 4 Neostigmine
44 A Randomized Controlled Trial to Evaluate the Acceptability, Feasibility and Efficacy of the Use of a Neonatal Package to Reduce Neonatal Infection in a Rural District of Pakistan Completed NCT02279381 Phase 4 Chlorhexidine
45 Changes in Regional Cerebral Blood Flow as an Indicator of Neuronal Activity in Patients Treated With Spinal Cord Stimulation for Low Back and Leg Pain Completed NCT00418301 Phase 4
46 Octad Study: Evaluation of the Effectiveness of the Octopolar Lead in Patients With Failed Back Surgery Syndrome With Low Back and/or Leg Pain During a One Year Follow-up Period Completed NCT01096147 Phase 4
47 The Efficacy and Safety of Xiaflex Injections for the Treatment of Thumb Cords in Dupuytren's Contractures Completed NCT01265420 Phase 4
48 Antibiotic Prophylaxis for Postpartum Infections Following Caesarean Section Completed NCT02072798 Phase 4 Cefuroxime
49 Prospective, Randomized Study of Multicolumn Implantable Lead Stimulation for Predominant Low Back Pain Completed NCT01697358 Phase 4 Optimal Medical Management (OMM)
50 Optimal Dose of Dexmedetomidine Sedation Following Spinal Anesthesia: Postpartum Versus Nonpregnant Women Completed NCT02111421 Phase 4 Dexmedetomidine 01;Dexmetomidine 02

Search NIH Clinical Center for Cone-Rod Dystrophy 2

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cone-Rod Dystrophy 2 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Cone-Rod Dystrophy 2:
Bone marrow-derived stem cells for retinal diseases
Embryonic/Adult Cultured Cells Related to Cone-Rod Dystrophy 2:
Bone marrow-derived mononuclear cells (family) PMIDs: 21225138 23000646 19347139 23049424
Sources

Genetic Tests for Cone-Rod Dystrophy 2

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Genetic tests related to Cone-Rod Dystrophy 2:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 2 29 CRX
2 Cone-Rod Dystrophy 29 PRPH2
Sources

Anatomical Context for Cone-Rod Dystrophy 2

About this section

MalaCards organs/tissues related to Cone-Rod Dystrophy 2:

40
Spinal Cord, Bone, Bone Marrow, Eye, Retina, Placenta, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cone-Rod Dystrophy 2:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Mature L Cone Cells Affected by disease
2 Eye Outer Nuclear Layer Mature M Cone Cells Affected by disease
3 Eye Outer Nuclear Layer Mature M-S Cone Cells Affected by disease
4 Eye Outer Nuclear Layer Mature Rod Cells Affected by disease
5 Eye Outer Nuclear Layer Mature S Cone Cells Affected by disease
Sources

Publications for Cone-Rod Dystrophy 2

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Articles related to Cone-Rod Dystrophy 2:

(show top 50) (show all 880)
# Title Authors PMID Year
1
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. 6 57 54 61
9390563 1997
2
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. 61 6 57
15531334 2004
3
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. 61 6 54
17320181 2007
4
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 6 61 54
15790869 2005
5
Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. 6 54 61
15175914 2004
6
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 6 61 54
12920076 2003
7
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. 61 54 6
12796258 2003
8
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. 6 61 54
12359607 2002
9
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. 54 61 6
11857109 2002
10
Novel frameshift mutations in CRX associated with Leber congenital amaurosis. 6 61 54
11748859 2001
11
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 6 54 61
11385708 2001
12
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. 61 54 6
11146732 2001
13
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 6 54 61
11139241 2001
14
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. 6 54 61
11115851 2000
15
Biochemical defects in ABCR protein variants associated with human retinopathies. 6 61 54
11017087 2000
16
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 6 54 61
10958761 2000
17
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 54 61 6
10951519 2000
18
Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene. 54 61 6
10413692 1999
19
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 61 6 54
9792858 1998
20
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. 6 61 54
9634506 1998
21
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 6 61 54
9618177 1998
22
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 6 54 61
9425234 1998
23
Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to "Locking" Cation-Ï€ Interactions that Impair the Activator-to-Inhibitor Structural Transition. 61 6
31979372 2020
24
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. 61 6
31728034 2019
25
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. 6 61
31215831 2019
26
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. 6 61
30184081 2018
27
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus. 61 6
29550188 2018
28
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. 57 61
28460050 2017
29
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. 61 6
26593885 2016
30
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. 61 6
26153215 2016
31
Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy. 61 6
25611614 2015
32
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 6 61
25356532 2015
33
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. 61 6
26702251 2015
34
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. 6 61
26682157 2015
35
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 6 61
25091951 2014
36
Mutation of POC1B in a severe syndromic retinal ciliopathy. 6 61
25044745 2014
37
Novel recessive cone-rod dystrophy caused by POC1B mutation. 6 61
24945461 2014
38
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 61 6
25018096 2014
39
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? 61 6
24875811 2014
40
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 6 61
25082885 2014
41
Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes. 6 61
24618324 2014
42
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 6 61
24154662 2014
43
Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene. 61 6
24352742 2014
44
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 6 61
23755871 2013
45
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 61 6
23746546 2013
46
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 6 61
23776498 2013
47
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. 61 6
24124559 2013
48
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. 61 6
23940504 2013
49
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 61 6
22264887 2012
50
Genes and mutations in autosomal dominant cone and cone-rod dystrophy. 61 6
22183351 2012
Sources

Variations for Cone-Rod Dystrophy 2

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ClinVar genetic disease variations for Cone-Rod Dystrophy 2:

6 (show top 50) (show all 6977)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EYS NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) SNV Pathogenic 143111 rs527236064 GRCh37: 6:64488004-64488004
GRCh38: 6:63778111-63778111
2 EYS NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) SNV Pathogenic 143112 rs527236066 GRCh37: 6:64472506-64472506
GRCh38: 6:63762613-63762613
3 EYS NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) SNV Pathogenic 143108 rs527236068 GRCh37: 6:64791763-64791763
GRCh38: 6:64081870-64081870
4 PHF3 , EYS NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) SNV Pathogenic 143115 rs527236067 GRCh37: 6:64431122-64431122
GRCh38: 6:63721226-63721226
5 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic 7362 rs121909076 GRCh37: 6:35471593-35471593
GRCh38: 6:35503816-35503816
6 RP1 NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) SNV Pathogenic 143134 rs201493928 GRCh37: 8:55537628-55537628
GRCh38: 8:54625068-54625068
7 PROM1 NM_006017.3(PROM1):c.1150_1151del (p.Arg384fs) Deletion Pathogenic 977807 GRCh37: 4:16010722-16010723
GRCh38: 4:16009099-16009100
8 CRB1 NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) SNV Pathogenic 191357 rs863223341 GRCh37: 1:197398685-197398685
GRCh38: 1:197429555-197429555
9 RP1 NM_006269.2(RP1):c.679T>G (p.Phe227Val) SNV Pathogenic 191355 rs863223340 GRCh37: 8:55534740-55534740
GRCh38: 8:54622180-54622180
10 CRB1 NM_201253.3(CRB1):c.1459dup (p.Ser487fs) Duplication Pathogenic 191358 rs863223342 GRCh37: 1:197390414-197390415
GRCh38: 1:197421284-197421285
11 RLBP1 NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) SNV Pathogenic 13100 rs28933990 GRCh37: 15:89754025-89754025
GRCh38: 15:89210794-89210794
12 ARL2BP NM_012106.4(ARL2BP):c.101-1G>C SNV Pathogenic 65473 rs879255568 GRCh37: 16:57282448-57282448
GRCh38: 16:57248536-57248536
13 RP1 NM_006269.2(RP1):c.2280_2284TAAAT[1] (p.Leu762fs) Microsatellite Pathogenic 5966 rs869320726 GRCh37: 8:55538722-55538726
GRCh38: 8:54626162-54626166
14 RP1 NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) Deletion Pathogenic 437950 rs1554519546 GRCh37: 8:55538610-55538623
GRCh38: 8:54626050-54626063
15 CNGA1 , LOC101927157 NM_001142564.1(CNGA1):c.1885C>T (p.Arg629Ter) SNV Pathogenic 438165 rs567961453 GRCh37: 4:47938833-47938833
GRCh38: 4:47936816-47936816
16 TOPORS NM_005802.5(TOPORS):c.2552_2553GA[2] (p.Glu852fs) Microsatellite Pathogenic 438066 rs527236116 GRCh37: 9:32541966-32541967
GRCh38: 9:32541968-32541969
17 EYS NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) SNV Pathogenic 438194 rs760798455 GRCh37: 6:65622398-65622398
GRCh38: 6:64912505-64912505
18 RP1 NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) SNV Pathogenic 437948 rs1554519533 GRCh37: 8:55538498-55538498
GRCh38: 8:54625938-54625938
19 EYS NM_001142800.2(EYS):c.5928-2A>G SNV Pathogenic 438200 rs181169439 GRCh37: 6:65098735-65098735
GRCh38: 6:64388842-64388842
20 CRB1 NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) SNV Pathogenic 438080 rs757740068 GRCh37: 1:197404669-197404669
GRCh38: 1:197435539-197435539
21 TOPORS NM_005802.5(TOPORS):c.2569del (p.Arg857fs) Deletion Pathogenic 438067 rs1554671407 GRCh37: 9:32541954-32541954
GRCh38: 9:32541956-32541956
22 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.1540C>T (p.Arg514Ter) SNV Pathogenic 236443 rs199584830 GRCh37: 4:47938971-47938971
GRCh38: 4:47936954-47936954
23 RP1 NM_006269.2(RP1):c.3843del (p.Pro1282fs) Deletion Pathogenic 437957 rs769601671 GRCh37: 8:55540279-55540279
GRCh38: 8:54627719-54627719
24 CLN3 NM_000086.2(CLN3):c.(374+1_375-1)_(533+1_534-1)del Deletion Pathogenic 565293 GRCh37: 16:28497812-28498982
GRCh38: 16:28486491-28487661
25 CLN3 NM_001042432.1(CLN3):c.379del (p.Arg127fs) Deletion Pathogenic 56267 rs386833717 GRCh37: 16:28498858-28498858
GRCh38: 16:28487537-28487537
26 FAM161A NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) SNV Pathogenic 497934 rs777678022 GRCh37: 2:62067136-62067136
GRCh38: 2:61840001-61840001
27 CNGB1 NM_001297.5(CNGB1):c.2166+1G>A SNV Pathogenic 636011 rs1596976316 GRCh37: 16:57951171-57951171
GRCh38: 16:57917267-57917267
28 EYS NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs) Deletion Pathogenic 636028 rs1582221424 GRCh37: 6:64776362-64776365
GRCh38: 6:64066469-64066472
29 MAK NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) SNV Pathogenic 636040 rs753314164 GRCh37: 6:10802142-10802142
GRCh38: 6:10801909-10801909
30 MERTK , MKS1 NM_006343.2:c.(?_-1)_(1144+1_1145-1)del Deletion Pathogenic 636043 GRCh37:
GRCh38:
31 EYS NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) SNV Pathogenic 197186 rs794727631 GRCh37: 6:66204814-66204814
GRCh38: 6:65494921-65494921
32 PDE6A NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter) SNV Pathogenic 636051 rs1581190641 GRCh37: 5:149286886-149286886
GRCh38: 5:149907323-149907323
33 PDE6A NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) SNV Pathogenic 636052 rs1581180469 GRCh37: 5:149278046-149278046
GRCh38: 5:149898483-149898483
34 PDE6A NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) Deletion Pathogenic 195462 rs754012367 GRCh37: 5:149245756-149245759
GRCh38: 5:149866193-149866196
35 EYS NM_001142800.2(EYS):c.232del (p.Cys78fs) Deletion Pathogenic 636025 rs1468020897 GRCh37: 6:66205072-66205072
GRCh38: 6:65495179-65495179
36 RHO NM_000539.3(RHO):c.316G>A (p.Gly106Arg) SNV Pathogenic 13038 rs104893773 GRCh37: 3:129247892-129247892
GRCh38: 3:129529049-129529049
37 RHO NM_000539.3(RHO):c.491C>T (p.Ala164Val) SNV Pathogenic 417867 rs104893793 GRCh37: 3:129249848-129249848
GRCh38: 3:129531005-129531005
38 RHO NM_000539.3(RHO):c.491C>T (p.Ala164Val) SNV Pathogenic 417867 rs104893793 GRCh37: 3:129249848-129249848
GRCh38: 3:129531005-129531005
39 RHO NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) SNV Pathogenic 13025 rs104893776 GRCh37: 3:129251096-129251096
GRCh38: 3:129532253-129532253
40 RHO NM_000539.3(RHO):c.810C>A (p.Ser270Arg) SNV Pathogenic 636084 rs768210562 GRCh37: 3:129251489-129251489
GRCh38: 3:129532646-129532646
41 PRPF31 NM_015629.4(PRPF31):c.997del (p.Glu333fs) Deletion Pathogenic 636072 rs1600355502 GRCh37: 19:54631498-54631498
GRCh38: 19:54128123-54128123
42 RP1 NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) SNV Pathogenic 636091 rs1585563965 GRCh37: 8:55539027-55539027
GRCh38: 8:54626467-54626467
43 RP1 NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer) Deletion Pathogenic 636092 rs1585564175 GRCh37: 8:55539132-55539137
GRCh38: 8:54626572-54626577
44 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter) SNV Pathogenic 10551 rs104894927 GRCh37: X:46713166-46713166
GRCh38: X:46853731-46853731
45 RP2 NM_006915.3(RP2):c.16_18del (p.Ser6del) Deletion Pathogenic 10544 rs137852284 GRCh37: X:46696550-46696552
GRCh38: X:46837115-46837117
46 RPGR NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs) Deletion Pathogenic 636108 rs1601891967 GRCh37: X:38128921-38128922
GRCh38: X:38269668-38269669
47 RPGR NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) Deletion Pathogenic 636109 rs1601891936 GRCh37: X:38128900-38128901
GRCh38: X:38269647-38269648
48 RPGR NM_000328.3(RPGR):c.248-2A>G SNV Pathogenic 98765 rs62638633 GRCh37: X:38180344-38180344
GRCh38: X:38321091-38321091
49 RPGR NM_000328.3(RPGR):c.28+1G>C SNV Pathogenic 636110 rs62638627 GRCh37: X:38186592-38186592
GRCh38: X:38327339-38327339
50 RPGR NM_000328.2(RPGR):c.*644del Deletion Pathogenic 636111 rs1601890980 GRCh37: X:38128235-38128235
GRCh38: X:38268982-38268982

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 2:

72
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg41Trp VAR_003750 rs104894672
2 CRX p.Glu80Ala VAR_003751 rs104894671
3 CRX p.Val242Met VAR_007949 rs61748459

Copy number variations for Cone-Rod Dystrophy 2 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 34944 1 5845456 5975118 Deletion NPHP4 Cone-rod dystrophy
2 82825 14 15600000 23600000 Copy number RPGRIP1 Cone-rod dystrophy
3 83474 14 20825975 20889300 Insertion RPGRIP1 Cone-rod dystrophy
4 239386 8 38973661 39081936 Deletion ADAM9 Cone-rod dystrophy
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Expression for Cone-Rod Dystrophy 2

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Search GEO for disease gene expression data for Cone-Rod Dystrophy 2.
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Pathways for Cone-Rod Dystrophy 2

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Pathways related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Visual Cycle in Retinal Rods 63
10.77 GUCY2D GUCA1A CNGA3
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GO Terms for Cone-Rod Dystrophy 2

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Cellular components related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.22 TTLL5 RIMS1 RAB28 PROM1 GUCY2D DRAM2
2 cell projection GO:0042995 9.7 TTLL5 RPGRIP1 RPGR RIMS1 RAB28 PRPH2
3 ciliary basal body GO:0036064 9.67 RPGR RAB28 POC1B CFAP410
4 photoreceptor disc membrane GO:0097381 9.5 GUCY2D GUCA1A ABCA4
5 photoreceptor inner segment GO:0001917 9.46 PRPH2 GUCA1A DRAM2 C8orf37
6 photoreceptor outer segment membrane GO:0042622 9.43 PROM1 GUCY2D CDHR1
7 photoreceptor outer segment GO:0001750 9.23 RPGR PRPH2 PROM1 GUCY2D GUCA1A CFAP410

Biological processes related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.65 RPGRIP1 RPGR RIMS1 PRPH2 GUCY2D GUCA1A
2 retina development in camera-type eye GO:0060041 9.54 TTLL5 RPGRIP1 PRPH2
3 photoreceptor cell maintenance GO:0045494 9.46 PROM1 DRAM2 CDHR1 ABCA4
4 detection of light stimulus involved in visual perception GO:0050908 9.43 PRPH2 CACNA2D4 CACNA1F
5 photoreceptor cell outer segment organization GO:0035845 9.4 PRPH2 CDHR1
6 visual perception GO:0007601 9.36 RPGRIP1 RPGR RIMS1 PRPH2 GUCY2D GUCA1A
7 photoreceptor cell morphogenesis GO:0008594 9.32 CDHR1 C8orf37
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Sources for Cone-Rod Dystrophy 2

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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