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CORD2
MCID: CNR004
MIFTS: 73

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 56 12 52 73 29 6 15 37 71
Cone-Rod Dystrophy 56 12 74 52 25 29 54 6 15
Cord2 56 12 52 73
Cone-Rod Retinal Dystrophy 2 12 52 73
Cone-Rod Retinal Dystrophy 56 12 25
Rcrd2 56 12 52
Crd2 12 52 73
Cone-Rod Retinal Dystrophy-2 56 13
Retinal Cone-Rod Dystrophy 2 12 52
Retinal Cone-Rod Dystrophy 56 25
Cone-Rod Degeneration 25 6
Cone Rod Dystrophy 58 6
Cord 56 25
Crd 56 25
Cone-Rod Retinal Dystrophy; Crd; Crd2 56
Retinal Cone-Rod Dystrophy; Rcrd2 56
Progressive Cone-Rod Dystrophy 71
Dystrophy, Cone-Rod, Type 2 39
Tapetoretinal Degeneration 25
Cone-Rod Dystrophy; Cord 56
Retinitis Pigmentosa 2 71
Retinitis Pigmentosa 71
Dystrophy, Cone-Rod 39

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:

56
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 56 120970
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
ICD10 32 H35.5
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA1872
UMLS 71 C0035334 C0339530 C2681923 more
Sources

Summaries for Cone-Rod Dystrophy 2

About this section
Genetics Home Reference : 25 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 the visual cycle I (vertebrates). The drugs Acetazolamide and Cyclobenzaprine 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.

NIH Rare Diseases : 52 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 : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 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 3245)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 6 36.6 RPGRIP1 PRPH2 CRX CERKL CACNA2D4 CACNA1F
2 cone-rod dystrophy 3 36.1 CRX CACNA1F ABCA4
3 cone-rod dystrophy, x-linked, 3 35.9 CACNA2D4 CACNA1F
4 cone-rod dystrophy 18 35.8 RAB28 CEP78
5 bardet-biedl syndrome 35.0 USH2A RPGRIP1 RHO RDH12 PRPH2 PCARE
6 leber congenital amaurosis 4 34.9 RPGRIP1 RDH12 PRPH2 CRX CEP290
7 leber congenital amaurosis 1 34.5 RPGRIP1 RHO RDH12 PRPH2 PROM1 CRX
8 retinitis pigmentosa 34.5 USH2A RPGRIP1 RHO RDH12 RAB28 PRPH2
9 fundus dystrophy 34.4 USH2A RPGRIP1 RHO RDH12 RAB28 PRPH2
10 inherited retinal disorder 34.0 USH2A RPGRIP1 RHO RDH12 PRPH2 PROM1
11 retinal degeneration 34.0 USH2A RPGRIP1 RHO RDH12 PRPH2 PROM1
12 cone-rod dystrophy 16 33.9 RAB28 PCARE FAM161A CEP78
13 leber congenital amaurosis 10 33.8 RPGRIP1 RDH12 CRX CEP290
14 leber congenital amaurosis 3 33.7 RPGRIP1 RDH12 CRX CEP290
15 retinal disease 33.7 USH2A RPGRIP1 RHO RDH12 PRPH2 NR2E3
16 leber plus disease 33.7 USH2A RPGRIP1 RHO RDH12 PRPH2 PCARE
17 joubert syndrome 1 33.6 RPGRIP1 RHO RDH12 PCARE FAM161A CRX
18 stargardt disease 33.5 USH2A RHO RDH12 PRPH2 PROM1 PCARE
19 retinitis 33.4 USH2A RPGRIP1 RHO RDH12 PRPH2 FAM161A
20 achromatopsia 33.3 USH2A RPGRIP1 RHO RDH12 RAB28 PRPH2
21 cone dystrophy 33.1 USH2A RHO PRPH2 CEP290 CACNA2D4 ABCA4
22 pathologic nystagmus 33.1 USH2A RPGRIP1 RHO RDH12 CRX CEP290
23 macular degeneration, age-related, 1 32.9 USH2A RHO RDH12 PRPH2 NR2E3 CRX
24 night blindness 32.9 USH2A RHO PRPH2 NR2E3 CERKL CACNA1F
25 congenital stationary night blindness 32.9 USH2A RPGRIP1 RHO RDH12 PRPH2 PCARE
26 usher syndrome 32.8 USH2A RHO RDH12 PRPH2 PROM1 PCARE
27 meckel syndrome, type 1 32.8 RPGRIP1 RHO CEP290 ALMS1
28 yemenite deaf-blind hypopigmentation syndrome 32.8 USH2A RHO CEP290 ABCA4
29 gyrate atrophy of choroid and retina 32.7 RHO PRPH2 PCARE ABCA4
30 eye disease 32.6 USH2A RHO RDH12 PRPH2 NR2E3 CRX
31 senior-loken syndrome 1 32.6 USH2A RPGRIP1 RHO RDH12 PRPH2 FAM161A
32 color blindness 32.3 RHO CRX ABCA4
33 stargardt macular degeneration 32.3 RHO PRPH2 ABCA4
34 fundus albipunctatus 32.0 RHO RDH12 PRPH2 NR2E3 CRX CERKL
35 hereditary retinal dystrophy 32.0 USH2A RHO PRPH2 CRX CEP290 ABCA4
36 peripheral retinal degeneration 31.8 RHO PRPH2 CERKL ABCA4
37 retinoschisis 1, x-linked, juvenile 31.8 RHO NR2E3 CRX CACNA1F ABCA4
38 nonsyndromic retinitis pigmentosa 31.5 USH2A ABCA4
39 leber congenital amaurosis / early-onset severe retinal dystrophy 31.5 CEP290 ALMS1
40 leber congenital amaurosis 5 31.4 RPGRIP1 RDH12
41 retinitis pigmentosa 19 31.2 PRPH2 ABCA4
42 retinitis pigmentosa 54 31.2 PCARE FAM161A
43 late-onset retinal degeneration 30.7 USH2A RHO PRPH2
44 macular dystrophy, dominant cystoid 30.6 USH2A PRPH2 NR2E3 ABCA4
45 spondylometaphyseal dysplasia with cone-rod dystrophy 13.1
46 cone-rod dystrophy, x-linked, 1 13.1
47 cone-rod dystrophy and hearing loss 1 13.1
48 cone-rod dystrophy 5 13.1
49 cone-rod dystrophy 20 13.0
50 cone-rod dystrophy 7 13.0

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:

56
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

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ADAM9 ALMS1 CACNA1F CEP290 CERKL FAM161A
2 nervous system MP:0003631 10.03 ABCA4 ALMS1 CACNA1F CEP290 CRX FAM161A
3 pigmentation MP:0001186 9.65 ABCA4 ADAM9 ALMS1 CEP290 CRX PCARE
4 vision/eye MP:0005391 9.6 ABCA4 ADAM9 ALMS1 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 978)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Cyclobenzaprine Approved Phase 4 303-53-7 2895
3
Memantine Approved, Investigational Phase 4 19982-08-2 4054
4
Teniposide Approved Phase 4 29767-20-2 34698
5
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
6
Dezocine Approved, Investigational Phase 4 53648-55-8 40841 3033053
7
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
8
Ranibizumab Approved Phase 4 347396-82-1 459903
9
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
10
4-Aminopyridine Approved Phase 4 504-24-5 1727
11
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
12
Amitriptyline Approved Phase 4 50-48-6 2160
13
Perphenazine Approved Phase 4 58-39-9 4748
14
Oxcarbazepine Approved Phase 4 28721-07-5 34312
15
Sulbactam Approved Phase 4 68373-14-8
16
Sultamicillin Approved, Investigational Phase 4 76497-13-7
17
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
18
Nicotine Approved Phase 4 54-11-5 942 89594
19 Orange Approved Phase 4
20
Chlorzoxazone Approved Phase 4 95-25-0 2733
21
Ondansetron Approved Phase 4 99614-02-5 4595
22
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
23
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
24
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
25
Palonosetron Approved, Investigational Phase 4 135729-56-5, 119904-90-4 148211
26
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
27
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
28
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
29
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
30
parecoxib Approved Phase 4 198470-84-7
31
Ramipril Approved Phase 4 87333-19-5 5362129
32
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
33
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
34
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
35
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
36
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
37
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
38
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
39
Tapentadol Approved Phase 4 175591-23-8 9838022
40
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
41
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
42
Acetaminophen Approved Phase 4 103-90-2 1983
43
Carbetocin Approved, Investigational Phase 4 37025-55-1 71715 16681432
44
Prilocaine Approved Phase 4 721-50-6 4906
45
Zinc Approved, Investigational Phase 4 7440-66-6 32051
46
Droxidopa Approved, Investigational Phase 4 23651-95-8 443940
47
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
48
Fosaprepitant Approved Phase 4 172673-20-0 219090
49
Aprepitant Approved, Investigational Phase 4 170729-80-3 6918365 151165
50
Nalbuphine Approved Phase 4 20594-83-6 5311304 5360630

Interventional clinical trials:

(show top 50) (show all 5064)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
2 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
3 Pilot Study About Viability and Efficacy of Intrabone Administration of Umbilical Cord Blood for Allogeneic Stem Cell Transplantation Unknown status NCT00838019 Phase 4
4 Child With Severe Aplastic Anemia (SAA) Therapy: the Injection of Umbilical Cord Derived Mesenchymal Stem Cells. Unknown status NCT02218437 Phase 4 MSC+ATG
5 Avanafil Versus Sildenafil in Spinal Cord Injury Erectile Dysfunction: Non- Inferiority, Randomized, Crossover, Open Clinical Trial Unknown status NCT03169582 Phase 4 Avanafil;Sildenafil
6 Analgesic Efficacy of High Frequency Spinal Cord Stimulation: a Placebo-controlled Study Unknown status NCT01400282 Phase 4
7 Changes of Gas Values in Cord Blood Versus Time and Temperature Unknown status NCT02785367 Phase 4
8 An Open, Longitudinal, Prospective, Non-randomized, Self-Controlled Feasibility Study to Investigate the Effect of the ReWalk™ Device on Mobility Outcomes in Patients With Chronic Spinal Cord Injury. Unknown status NCT01943669 Phase 4
9 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
10 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
11 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
12 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
13 Phase 4 Study of the Effect of Botulinum-A Toxin Injected in Neurogenic Overactive Bladders of Children Born With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
14 Evaluation of Suprapubic Noble Metal Alloy BIP Foley Catheter in the Prevention of Catheter-associated Urinary Tract Infections in Spinal Cord Injured Patients Unknown status NCT02808000 Phase 4
15 Anesthesia Induction With Propofol or Sevoflurane in Patients Undergoing Fiberoptic Intubation for Cervical Myelopathy: Effects on Heamodynamics Unknown status NCT01052337 Phase 4 anaesthetics: sevofluorane
16 The Use of Bronchial Blocker Versus Double Lumen Tube for One-lung Ventilation During Thoracoscope Assisted Mitral Valve Replacement Unknown status NCT02729610 Phase 4
17 Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders Unknown status NCT02021825 Phase 4 Mitoxantrone
18 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
19 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
20 The Effect of Intravenous Oxytocin Infusion Using Different Diluents on Neonatal Bilirubin & Sodium Levels .A Prospective Randomized Controlled Trial. Unknown status NCT02602301 Phase 4 Oxytocin
21 A Longitudinal Clinical Feasibility Study to Evaluate the Psychological and Functional Effects of Using the Tobii™ Eyegaze System by Inpatients With Tetraplegia Unknown status NCT01943656 Phase 4
22 Randomized Study on SCS for the Treatment of Refractory Angina Pectoris Unknown status NCT00121654 Phase 4
23 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on the Anesthetic Condition With Fentanyl in Children Undergoing Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
24 The Prospective Study of FVD Program and HD-MTX-Ara-C Program Contrast in the Treatment of PCNSL Lymphoma. Unknown status NCT01960192 Phase 4 HD-MTX-Ara-C regimen;FVD regimen
25 Functional Electrical Stimulation (FES)-Assisted Walking: Enhancement of Voluntary Walking Function Among Persons With Severe Hemiplegia Post-Stroke Unknown status NCT00552916 Phase 4
26 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4 Memantine;Placebo
27 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
28 Comparison of Two Kinds of Postoperative Analgesia After Amputation:a Randomized Clinical Trial Unknown status NCT02114463 Phase 4 ropivacaine;flurbiprofen
29 Retroclavicular Approach vs Infraclavicular Approach for Brachial Plexus Block in Obese Unknown status NCT02990702 Phase 4 Bupivacaine
30 A Randomised Controlled Trial of the Effectiveness of Acetazolamide in Reducing Cerebrospinal Fluid Pressure for Patients Undergoing Thoracic-abdominal Aortic Repair Unknown status NCT01889498 Phase 4 Acetazolamide
31 An Eight Week, Double-Blind Efficacy Study of Cyclobenzaprine ER (Amrix TM) Augmentation to Alleviate Fibromyalgia Fatigue and Muscle Pain Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
32 Early Nerve Reconstruction Approach in Tetraplegic Patients With Dysfunctional Upper Extremity: a Randomized Controlled Trial. Unknown status NCT01579604 Phase 4
33 Efficacy of Intravenous Lidocaine in the Operative Management of Thyroid Surgery With Intraoperative Nerve Monitoring Unknown status NCT02479789 Phase 4 Lidocaine;Placebo
34 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
35 A Comparison of Myocardial Protection Using Preconditioning With Sevoflurane Against High Thoracic Epidural Analgesia for CABG Surgery Unknown status NCT00244283 Phase 4 Sevoflurane
36 Analgesic and Hemodynamic Effects of Continuous Epidural Analgesia Compared to Paravertebral Block in Liver Resection Patients Unknown status NCT02909322 Phase 4
37 Multicentre Randomised Controled Trial Comparing the Effect of a New Self-gripping Lightweight Polyester Mesh and a Normal Sutured Lightweight Polyester Mesh on the Incidence of Chronic Inguinodynia in Lichtenstein Hernioplasty. Unknown status NCT01830452 Phase 4
38 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
39 An Integrated Approach With Vardenafil Orodispersible and Cognitive-behavioral Sex Therapy for the Treatment of Erectile Dysfunction (STEDOV) Completed NCT02450188 Phase 4 Vardenafil
40 Correlation of Functional and Structural Outcomes With Serum Antibody Profiles in Patients With Neovascular Age-related Macular Degeneration Treated With Ranibizumab and Healthy Subjects: A Prospective, Controlled Monocenter Trial Completed NCT02843490 Phase 4 Ranibizumab
41 The Effect of Botulinum Toxin A in Post Spinal Cord Injury Neuropathic Pain Completed NCT01579500 Phase 4 Botulinum toxin type A;normal saline
42 Treatment of Fecal Incontinence and Constipation in Patients With Spinal Cord Injury - a Prospective, Randomized, Controlled, Multicentre Trial of Transanal Irrigation Vs. Conservative Bowel Management Completed NCT00286520 Phase 4
43 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)
44 A Six Month Randomized Open-Label Trial of Pressure Ulcer Healing With Microcyn® Skin and Wound Care With Preservatives Versus Sterile Saline in Adult Spinal Cord Injury Subjects Completed NCT02001558 Phase 4 Microcyn
45 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
46 Double-blind, Cross-over, Placebo Controlled Pilot Study to Characterize the Profile of Those Patients With Spinal Cord Injury Diagnosed by Electrophysiological, Urodynamic and Clinical (ASIA Group) Assessment Who May Respond to Vardenafil Treatment. (LEMDE) Completed NCT00667966 Phase 4 Vardenafil (Levitra, BAY 38-9456), 10 mg;Placebo;Vardenafil (Levitra, BAY 38-9456), 20 mg
47 Melatonin Replacement for Treatment of Sleep Disruption Completed NCT00507546 Phase 4 Ramelteon;Placebo
48 Management of Chronic Pain in Rehabilitation Project I - Management of Chronic Pain in Persons With Spinal Cord Injury Completed NCT00006428 Phase 4 Amitriptyline
49 Symptom-Based Treatment for Neuropathic Pain in Spinal Cord Injured Patients, Randomized Clinical Trial Completed NCT02180880 Phase 4 Pregabalin and Oxcarbazepine
50 Bowel Care and Cardiovascular Function After Spinal Cord Injury Completed NCT01567605 Phase 4 Lidocaine lubricant

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

About this section

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, Brain, Bone Marrow, Testes, Lung, Heart
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 669)
# 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. 61 54 56 6
9390563 1997
2
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. 56 6 61
15531334 2004
3
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. 54 6 61
17320181 2007
4
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 6 54 61
15790869 2005
5
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 6 61 54
12920076 2003
6
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. 6 61 54
12796258 2003
7
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. 6 61 54
11857109 2002
8
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. 54 6 61
11146732 2001
9
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 54 61 6
10958761 2000
10
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 54 6 61
10951519 2000
11
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 61 6 54
9792858 1998
12
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. 61 54 6
9634506 1998
13
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 54 6 61
9618177 1998
14
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 61 6 54
9425234 1998
15
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. 61 56
28460050 2017
16
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 61 6
25356532 2015
17
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. 6 61
26702251 2015
18
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 6 61
25091951 2014
19
Novel recessive cone-rod dystrophy caused by POC1B mutation. 6 61
24945461 2014
20
Mutation of POC1B in a severe syndromic retinal ciliopathy. 6 61
25044745 2014
21
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 6 61
25018096 2014
22
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 6 61
23746546 2013
23
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 61 6
23776498 2013
24
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. 61 6
24124559 2013
25
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. 61 6
20517349 2010
26
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. 6 61
19409519 2009
27
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 61 6
18285826 2008
28
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. 6 61
17325136 2007
29
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 6 61
16505158 2006
30
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 6 61
16199541 2006
31
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. 6 61
15953638 2005
32
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. 6 61
15914600 2005
33
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 61 6
12659814 2003
34
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 6 61
12552567 2003
35
The ABCA4 gene in autosomal recessive cone-rod dystrophies. 6 54
12515255 2002
36
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 61 6
11919200 2002
37
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. 61 6
11581183 2001
38
Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy. 6 61
11453854 2001
39
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 61 6
11006213 2000
40
Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? 6 61
10676808 2000
41
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. 6 54
10647719 2000
42
A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q. 56 61
9610810 1998
43
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 61 6
9466990 1998
44
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. 61 6
9427255 1997
45
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. 61 6
9097965 1997
46
Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype. 56 61
7864751 1995
47
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. 56 61
8162077 1994
48
Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. 61 56
6940444 1981
49
Dominant cone-rod dystrophy. 56 61
1201699 1975
50
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. 6
28125083 2017
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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 337) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR2E3 NM_014249.4(NR2E3):c.722_723TC[1] (p.Ser242fs)short repeat Pathogenic 560471 rs750740765 15:72104826-72104827 15:71812486-71812487
2 PANK2 NM_153638.3(PANK2):c.1317del (p.Arg440fs)deletion Pathogenic 560475 rs544616523 20:3893186-3893186 20:3912539-3912539
3 PANK2 NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)deldeletion Pathogenic 565299 20:3869742-3903890 20:3889095-3923243
4 RHO NM_000539.3(RHO):c.491C>T (p.Ala164Val)SNV Pathogenic 417867 rs104893793 3:129249848-129249848 3:129531005-129531005
5 CDHR1 NM_033100.4(CDHR1):c.1485+2T>GSNV Pathogenic 812262 10:85970923-85970923 10:84211167-84211167
6 CACNA2D4 NC_000012.12:g.1839550_1875411deldeletion Pathogenic 812253
7 CACNA1F NM_001256789.3(CACNA1F):c.1276+34G>ASNV Pathogenic 812250 X:49083398-49083398 X:49226936-49226936
8 CACNA1F NM_001256789.3(CACNA1F):c.1015-2A>GSNV Pathogenic 812251 X:49084603-49084603 X:49228141-49228141
9 ADAM9 NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter)SNV Pathogenic 6878 rs137853041 8:38874817-38874817 8:39017298-39017298
10 ADAM9 NM_003816.3(ADAM9):c.411-8A>GSNV Pathogenic 6879 rs786205086 8:38874730-38874730 8:39017211-39017211
11 CRX NM_000554.6(CRX):c.239A>C (p.Glu80Ala)SNV Pathogenic 7416 rs104894671 19:48339638-48339638 19:47836381-47836381
12 CRX NM_000554.6(CRX):c.502del (p.Glu168fs)deletion Pathogenic 7417 rs1568626209 19:48342826-48342826 19:47839569-47839569
13 CRX NM_000554.6(CRX):c.121C>T (p.Arg41Trp)SNV Pathogenic 7418 rs104894672 19:48339520-48339520 19:47836263-47836263
14 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
15 RDH12 NM_152443.3(RDH12):c.146C>T (p.Thr49Met)SNV Pathogenic 2049 rs28940314 14:68191267-68191267 14:67724550-67724550
16 CRX CRX, 3-BP DEL/2-BP INS, NT816indel Pathogenic 7425
17 RAB28 NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter)SNV Pathogenic 60755 rs398123044 4:13383201-13383201 4:13381577-13381577
18 CABP4 NM_145200.4(CABP4):c.646C>T (p.Arg216Ter)SNV Pathogenic 190959 rs150115958 11:67225148-67225148 11:67457677-67457677
19 PROM1 NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)SNV Pathogenic 253326 rs886037880 4:16010716-16010716 4:16009093-16009093
20 PROM1 NM_006017.3(PROM1):c.2281-20_2281-11deldeletion Pathogenic 253327 rs886037881 4:15985989-15985998 4:15984366-15984375
21 CEP290 NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)SNV Pathogenic 281411 rs886042153 12:88500547-88500547 12:88106770-88106770
22 CEP78 NM_001330691.3(CEP78):c.893-1G>ASNV Pathogenic 372269 rs1057517694 9:80863206-80863206 9:78248290-78248290
23 CEP78 NM_001330691.3(CEP78):c.534del (p.Lys179fs)deletion Pathogenic 372270 rs1057517695 9:80856645-80856645 9:78241729-78241729
24 ABCA4 NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)SNV Pathogenic 236096 rs201471607 1:94512499-94512499 1:94046943-94046943
25 ABCA4 NM_000350.3(ABCA4):c.5312+1G>ASNV Pathogenic 236128 rs886044750 1:94481294-94481294 1:94015738-94015738
26 CRX NM_000554.6(CRX):c.615del (p.Ser206fs)deletion Pathogenic 99618 rs281865516 19:48342935-48342935 19:47839678-47839678
27 ABCA4 NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)duplication Pathogenic 99292 rs281865377 1:94495002-94495003 1:94029446-94029447
28 ABCA4 NM_000350.3(ABCA4):c.5714+5G>ASNV Pathogenic 99403 rs61751407 1:94476351-94476351 1:94010795-94010795
29 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
30 USH2A NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)SNV Pathogenic 48449 rs397517994 1:215813957-215813957 1:215640615-215640615
31 RPGRIP1 NM_020366.3(RPGRIP1):c.1615_1624del (p.Glu539fs)deletion Pathogenic 812424 14:21790015-21790024 14:21321856-21321865
32 ALMS1 NM_015120.4(ALMS1):c.808C>T (p.Arg270Ter)SNV Pathogenic 812221 2:73651598-73651598 2:73424470-73424470
33 PCARE NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter)insertion Pathogenic 812241 2:29296649-29296650 2:29073783-29073784
34 ABCA4 NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs)duplication Pathogenic 812202 1:94486918-94486919 1:94021362-94021363
35 ABCA4 NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)SNV Pathogenic 812194 1:94466558-94466558 1:94001002-94001002
36 CDHR1 NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter)SNV Pathogenic 812261 10:85970817-85970817 10:84211061-84211061
37 RBP3 NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter)SNV Pathogenic 812388 10:48383853-48383853 10:47355509-47355509
38 ADAM9 NM_003816.3(ADAM9):c.1455C>A (p.Tyr485Ter)SNV Pathogenic 812214 8:38913155-38913155 8:39055636-39055636
39 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs)deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095
40 PROM1 NM_006017.3(PROM1):c.2077-521A>GSNV Pathogenic/Likely pathogenic 190373 rs796051882 4:15989860-15989860 4:15988237-15988237
41 CNGA1 NM_000087.4(CNGA1):c.959C>T (p.Ser320Phe)SNV Pathogenic/Likely pathogenic 16932 rs62625014 4:47939552-47939552 4:47937535-47937535
42 NR2E3 NM_014249.4(NR2E3):c.119-2A>CSNV Pathogenic/Likely pathogenic 191059 rs2723341 15:72103821-72103821 15:71811481-71811481
43 CRX NM_000554.6(CRX):c.122G>A (p.Arg41Gln)SNV Pathogenic/Likely pathogenic 7421 rs61748436 19:48339521-48339521 19:47836264-47836264
44 PRPH2 NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)SNV Pathogenic/Likely pathogenic 623212 rs121918567 6:42672347-42672347 6:42704609-42704609
45 AIPL1 NM_014336.5(AIPL1):c.294del (p.Ile99fs)deletion Likely pathogenic 638356 17:6331809-6331809 17:6428489-6428489
46 CACNA1F NM_001256789.3(CACNA1F):c.946_948TTC[2] (p.Phe318del)short repeat Likely pathogenic 438129 rs1557110499 X:49084773-49084775 X:49228311-49228313
47 CRX NM_000554.6(CRX):c.898T>C (p.Ter300Gln)SNV Likely pathogenic 829982 19:48343222-48343222 19:47839965-47839965
48 CRX NM_000554.6(CRX):c.101-1G>TSNV Likely pathogenic 858053 19:48339499-48339499 19:47836242-47836242
49 USH2A NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn)SNV Likely pathogenic 133312 rs483353055 1:216373373-216373373 1:216200031-216200031
50 ABCA4 NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)SNV Likely pathogenic 236102 rs768278935 1:94506805-94506805 1:94041249-94041249

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

73
# 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
the visual cycle I (vertebrates) 1
Show member pathways
 10.54 RHO RDH12 ABCA4
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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 cell projection GO:0042995 9.9 USH2A RPGRIP1 RHO RAB28 PRPH2 PROM1
2 cilium GO:0005929 9.8 RPGRIP1 PROM1 PCARE FAM161A CEP78 CEP290
3 ciliary basal body GO:0036064 9.77 USH2A RAB28 FAM161A CEP78 CEP290
4 photoreceptor connecting cilium GO:0032391 9.62 USH2A RPGRIP1 FAM161A CEP290
5 photoreceptor outer segment membrane GO:0042622 9.58 RHO PROM1 CDHR1
6 photoreceptor outer segment GO:0001750 9.5 RHO PRPH2 PROM1 PCARE CERKL CACNA1F
7 photoreceptor disc membrane GO:0097381 9.46 RHO ABCA4
8 photoreceptor inner segment membrane GO:0060342 9.43 RHO RDH12
9 photoreceptor inner segment GO:0001917 9.17 USH2A RHO RDH12 PRPH2 PCARE FAM161A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.71 CEP78 CEP290 ALMS1
2 response to stimulus GO:0050896 9.7 USH2A RPGRIP1 RHO RDH12 PRPH2 PCARE
3 ciliary basal body-plasma membrane docking GO:0097711 9.67 CEP78 CEP290 ALMS1
4 photoreceptor cell maintenance GO:0045494 9.63 USH2A RHO RDH12 PROM1 CDHR1 ABCA4
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.61 CEP78 CEP290 ALMS1
6 retina development in camera-type eye GO:0060041 9.56 RPGRIP1 RHO PRPH2 NR2E3
7 retinoid metabolic process GO:0001523 9.54 RHO RDH12 ABCA4
8 cilium organization GO:0044782 9.52 FAM161A CEP78
9 detection of light stimulus involved in visual perception GO:0050908 9.51 CACNA2D4 CACNA1F
10 eye photoreceptor cell development GO:0042462 9.5 RPGRIP1 NR2E3 CEP290
11 sensory perception of light stimulus GO:0050953 9.48 USH2A RHO
12 photoreceptor cell outer segment organization GO:0035845 9.46 PCARE CDHR1
13 phototransduction, visible light GO:0007603 9.4 RHO ABCA4
14 visual perception GO:0007601 9.36 USH2A RPGRIP1 RHO RDH12 PRPH2 PCARE
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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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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