Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
CORD2
MCID: CNR004
MIFTS: 78

Cone-Rod Dystrophy 2 (CORD2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications 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 11 19 73 28 5 14 36 71
Cone-Rod Dystrophy 57 11 19 42 75 28 53 5 14
Cord2 57 11 19 73
Cone-Rod Retinal Dystrophy 2 11 19 73
Cone-Rod Retinal Dystrophy 57 11 42
Rcrd2 57 11 19
Crd2 11 19 73
Cone-Rod Retinal Dystrophy-2 57 12
Retinal Cone-Rod Dystrophy 2 11 19
Retinal Cone-Rod Dystrophy 57 42
Tapetoretinal Degeneration 42 5
Cord 57 42
Crd 57 42
Progressive Cone-Rod Dystrophy 71
Dystrophy, Cone-Rod, Type 2 38
Retinitis Pigmentosa 2 71
Cone-Rod Degeneration 42
Retinitis Pigmentosa 71
Dystrophy, Cone-Rod 38
Cone Rod Dystrophy 58

Characteristics:


Inheritance:

Cone-Rod Dystrophy 2: Autosomal dominant 57
Cone Rod Dystrophy: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Age Of Onset:

Cone Rod Dystrophy: Adolescent,Adult,Childhood 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0050572 DOID:0111005
OMIM® 57 120970
OMIM Phenotypic Series 57 PS120970
MeSH 43 D058499
ICD10 31 H35.5
ICD10 via Orphanet 32 H35.5
Orphanet 58 ORPHA1872
UMLS 71 C0035334 C0339530 C2681923 more
Sources

Summaries for Cone-Rod Dystrophy 2

About this section

MedlinePlus Genetics: 42 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 3 and cone-rod dystrophy 16. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Bardet-Biedl syndrome and Ciliopathies. The drugs Tocopherol and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are abnormality of retinal pigmentation and photophobia

GARD: 19 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 genetic changes 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.

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field.

Disease Ontology 11 Cone-rod dystrophy 2: A cone-rod dystrophy that has material basis in heterozygous mutation in the CRX gene on chromosome 19q13.

Cone-rod dystrophy: A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.

Wikipedia: 75 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
Cone-Rod Dystrophy 22

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

(show top 50) (show all 3818)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 3 34.4 RPGR GUCY2D GUCA1A CRX CACNA1F ABCA4
2 cone-rod dystrophy 16 34.2 TTLL5 RPGR RAB28 POC1B CFAP418 CACNA2D4
3 cone-rod dystrophy 6 34.1 RPGRIP1 GUCY2D GUCA1A CACNA2D4
4 cone-rod dystrophy, x-linked, 1 34.0 RPGR CACNA1F ABCA4
5 cone-rod dystrophy, x-linked, 3 34.0 RPGR CACNA2D4 CACNA1F
6 cone-rod dystrophy 1 34.0 RPGRIP1 RPGR
7 retinitis pigmentosa 33.9 TTLL5 SEMA4A RPGRIP1 RPGR RAB28 PRPH2
8 cone-rod dystrophy 18 33.9 TTLL5 RAB28 CFAP418
9 cone-rod dystrophy 9 33.9 GUCY2D CNGA3 ADAM9
10 fundus dystrophy 33.8 TTLL5 SEMA4A RPGRIP1 RPGR RAB28 PRPH2
11 leber congenital amaurosis 4 33.7 RPGRIP1 PRPH2 GUCY2D CRX
12 cone-rod dystrophy 12 33.7 PROM1 ABCA4
13 cone-rod dystrophy 11 33.7 CRX CFAP418
14 cone-rod dystrophy 13 33.7 RPGRIP1 RPGR
15 leber plus disease 33.5 TTLL5 RPGRIP1 RPGR RAB28 PRPH2 PROM1
16 bardet-biedl syndrome 33.4 RPGRIP1 RPGR PRPH2 GUCY2D CRX CFAP418
17 cone dystrophy 33.4 TTLL5 RPGRIP1 RPGR RAB28 PRPH2 POC1B
18 leber congenital amaurosis 1 33.2 RPGRIP1 PROM1 GUCY2D GUCA1A CRX CNGA3
19 retinal degeneration 33.1 SEMA4A RPGRIP1 RPGR PRPH2 PROM1 NMNAT1
20 leber congenital amaurosis 10 33.0 RPGRIP1 RPGR GUCY2D CRX ABCA4
21 spondylometaphyseal dysplasia, axial 32.9 CFAP410 CACNA2D4
22 leber congenital amaurosis 3 32.9 RPGRIP1 GUCY2D CRX
23 achromatopsia 32.7 TTLL5 RPGRIP1 RPGR RAB28 PRPH2 POC1B
24 progressive cone dystrophy 32.7 RPGR PRPH2 GUCY2D GUCA1A CNGA3 CACNA2D4
25 stargardt disease 32.6 RPGR PRPH2 PROM1 GUCY2D GUCA1A CRX
26 retinal disease 32.6 RPGR PRPH2 GUCY2D GUCA1A CRX CACNA1F
27 retinitis 32.5 SEMA4A RPGRIP1 RPGR PRPH2 ABCA4
28 joubert syndrome 1 32.4 TTLL5 RPGRIP1 RPGR POC1B GUCY2D CRX
29 night blindness 32.3 RPGR PRPH2 GUCY2D CRX CACNA2D4 CACNA1F
30 peripheral retinal degeneration 32.3 RPGR POC1B CNGA3 ABCA4
31 congenital stationary night blindness 32.3 TTLL5 RPGR PRPH2 NMNAT1 GUCY2D GUCA1A
32 color blindness 32.3 RPGRIP1 RPGR PRPH2 GUCY2D GUCA1A CRX
33 gyrate atrophy of choroid and retina 32.2 RPGR PRPH2 GUCA1A CNGA3 ABCA4
34 usher syndrome 32.2 RPGRIP1 RPGR PRPH2 PROM1 GUCY2D GUCA1A
35 macular degeneration, age-related, 1 32.2 RPGR PRPH2 GUCY2D CRX CNGA3 ABCA4
36 scotoma 32.1 RPGR PRPH2 GUCY2D GUCA1A CNGA3 CDHR1
37 stargardt disease 1 32.1 PRPH2 PROM1 CRX ABCA4
38 eye disease 32.0 RPGRIP1 RPGR PRPH2 GUCY2D GUCA1A CRX
39 enhanced s-cone syndrome 31.9 RPGR GUCY2D CRX CNGA3 ABCA4
40 senior-loken syndrome 1 31.8 RPGRIP1 RPGR PRPH2 POC1B GUCY2D CRX
41 choroidal dystrophy, central areolar, 1 31.8 TTLL5 RPGR PRPH2 GUCY2D GUCA1A CRX
42 pathologic nystagmus 31.6 CNGA3 CACNA1F
43 leber congenital amaurosis 7 31.5 GUCY2D CRX
44 leber congenital amaurosis 9 31.5 NMNAT1 GUCY2D CRX
45 hereditary retinal dystrophy 31.5 PRPH2 GUCY2D ABCA4
46 retinoschisis 1, x-linked, juvenile 31.4 RPGR PRPH2 GUCY2D CRX CNGA3 CACNA1F
47 achromatopsia 3 31.3 RPGRIP1 CNGA3 CACNA1F
48 usher syndrome, type iia 31.3 RPGR CDHR1 ABCA4
49 fundus albipunctatus 31.3 RPGR PRPH2 GUCY2D CRX CACNA1F ABCA4
50 retinal cone dystrophy 4 31.2 PRPH2 GUCA1A CACNA2D4 CACNA1F

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

About this section

Human phenotypes related to Cone-Rod Dystrophy 2:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 ABCA4 ADAM9 CACNA1F CACNA2D4 CDHR1 CFAP410
2 no effect GR00402-S-2 10.18 ABCA4 ADAM9 CACNA1F CACNA2D4 CDHR1 CFAP410
3 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.05 CACNA1F CNGA3 GUCA1A RPGR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-117 10.05 CACNA1F
5 Increased shRNA abundance (Z-score > 2) GR00366-A-14 10.05 CNGA3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.05 RPGR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-153 10.05 CNGA3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.05 RPGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.05 CACNA1F
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.05 GUCA1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-204 10.05 CNGA3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.05 GUCA1A RPGR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-26 10.05 CACNA1F
14 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.05 CNGA3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.05 GUCA1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.05 RPGR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.05 RPGR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.05 CACNA1F RPGR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.05 GUCA1A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.05 CACNA1F
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.05 CACNA1F
22 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10.05 CNGA3

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 CACNA1F CFAP418 CNGA3 CRX GUCA1A
2 pigmentation MP:0001186 9.91 ABCA4 ADAM9 CRX NMNAT1 PROM1 PRPH2
3 cardiovascular system MP:0005385 9.65 ABCA4 ADAM9 CACNA1F CACNA2D4 CRX NMNAT1
4 vision/eye MP:0005391 9.58 ABCA4 ADAM9 CACNA1F CACNA2D4 CDHR1 CFAP418
Sources

Drugs & Therapeutics for Cone-Rod Dystrophy 2

About this section

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

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2
2
Acetylcysteine Approved, Investigational Phase 3 616-91-1 581 12035
3
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
4
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
5
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 5281243
6
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 3 59-02-9, 10191-41-0 2116 14985
7
Tocotrienol Investigational Phase 3 6829-55-6 9929901
8 Calciferol Phase 3
9 Retinol palmitate Phase 3
10 Tocotrienols Phase 3
11 Tocopherols Phase 3
12 Antioxidants Phase 3
13 Protective Agents Phase 3
14 Antiviral Agents Phase 3
15 Anti-Infective Agents Phase 3
16 Expectorants Phase 3
17 Antidotes Phase 3
18 N-monoacetylcystine Phase 3
19 Respiratory System Agents Phase 3
20 Antihypertensive Agents Phase 3
21
Isopropyl unoprostone Phase 3 3777
22
Aflibercept Approved Phase 2 862111-32-8 124490314
23
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
24
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3 3680
25
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 3003 5743
26
Carbidopa Approved Phase 2 28860-95-9 34359 38101
27
Levodopa Approved Phase 2 59-92-7, 63-84-3 6047
28
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
29
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1, 93107-08-5 2764
30
Povidone-iodine Approved Phase 2 25655-41-8
31
Iodine Approved, Investigational Phase 2 7553-56-2 807
32
Povidone K30 Approved, Experimental, Withdrawn Phase 2 9003-39-8 6917 131751496
33
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
34
Minocycline Approved, Investigational Phase 2 10118-90-8, 13614-98-7 54675783 5281021
35
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
36
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
37
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
38
Sildenafil Approved, Investigational Phase 2 139755-83-2, 171599-83-0 5212 135398744
39
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
40
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 6811-73-0, 7235-40-7 10256668 5280489
41
Cadexomer iodine Experimental Phase 2 94820-09-4
42
Varespladib methyl Investigational Phase 2 172733-08-3
43 Angiogenesis Inhibitors Phase 2
44 Immunologic Factors Phase 2
45 Adjuvants, Immunologic Phase 2
46 Antineoplastic Agents, Hormonal Phase 2
47 Hormones Phase 2
48 Hormone Antagonists Phase 2
49 Antiemetics Phase 2
50 glucocorticoids Phase 2

Interventional clinical trials:

(show top 50) (show all 208)
# Name Status NCT ID Phase Drugs
1 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
2 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Patients With Retinitis Pigmentosa Unknown status NCT01680510 Phase 2, Phase 3
3 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
4 Cord Blood Platelet-rich Plasma (CB-PRP) in Retinitis Pigmentosa Completed NCT04636853 Phase 3
5 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
6 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
7 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
8 Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Recruiting NCT04671433 Phase 3
9 Follow-up Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Recruiting NCT04794101 Phase 3
10 The Effect of Wharton Jelly-derived Mesenchymal Stem Cells and Stem Cell Exosomes on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT05413148 Phase 2, Phase 3
11 A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss Active, not recruiting NCT05176717 Phase 2, Phase 3 QR-421a
12 A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene (Sirius) Active, not recruiting NCT05158296 Phase 2, Phase 3 Ultevursen
13 A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects With Choroideremia Previously Treated With Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects With X-Linked Retinitis Pigmentosa Previously Treated With Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study Enrolling by invitation NCT03584165 Phase 3
14 NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa Not yet recruiting NCT05537220 Phase 3 N-acetylcysteine;Placebo
15 A Phase 2/3, Randomized, Controlled, Masked, Multi-center Study to Evaluate the Efficacy, Safety and Tolerability of Two Doses of AGTC-501, a Recombinant Adeno-associated Virus Vector Expressing RPGR (rAAV2tYF-GRK1-RPGR), Compared to an Untreated Control Group in Male Subjects With X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene Not yet recruiting NCT04850118 Phase 2, Phase 3
16 Phase III Clinical Study of UF-021 for Retinitis Pigmentosa - Evaluation for a Comparative Double Masked Placebo Controlled Study Period and a Continuous Administration Period Terminated NCT01786395 Phase 3 UF-021;Placebo
17 An Open Labeled Clinical Study to Evaluate the Safety and Efficacy OF Autologous Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Retinitis Pigmentosa. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01914913 Phase 1, Phase 2
18 Prospective Non-randomised Exploratory Study to Assess the Safety and Efficacy of Aflibercept (Eylea) in Cystoid Macular Oedema (CMO) Associated With Retinitis Pigmentosa (RP) Unknown status NCT02661711 Phase 2 Aflibercept
19 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Unknown status NCT02709876 Phase 1, Phase 2
20 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
21 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Unknown status NCT02837640 Phase 2 levodopa-carbidopa
22 A Dose Escalation (Phase 1), and Dose Expansion (Phase 2/3) Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using an Adeno-Associated Viral Vector (AAV8) Encoding Retinitis Pigmentosa GTPase Regulator (RPGR) Completed NCT03116113 Phase 1, Phase 2
23 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2-.RPGR) for Gene Therapy of Adults and Children With X-linked Retinitis Pigmentosa Owing to Defects in Retinitis Pigmentosa GTPase Regulator (RPGR) Completed NCT03252847 Phase 1, Phase 2
24 A Prospective, Multicenter, Randomized, Study of the Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT03073733 Phase 2
25 Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa Completed NCT04315025 Phase 1, Phase 2
26 A Phase 2 Study of the Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT04604899 Phase 2
27 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
28 Nerve Growth Factor Eye Drops as a Novel Treatment for Vision Loss in Patients With Retinitis Pigmentosa: From Preclinical to Clinical Phase II Trial Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
29 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Acuity as the Primary Outcome Completed NCT00447993 Phase 2 NT-501
30 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Field Sensitivity as the Primary Outcome Completed NCT00447980 Phase 2 NT-501
31 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2 400 µg Brimonidine Tartrate Implant;200 µg Brimonidine Tartrate Implant;100 µg Brimonidine Tartrate Implant
32 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Completed NCT03780257 Phase 1, Phase 2 QR-421a
33 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
34 A Phase I/IIa Open Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Intravitreal vMCO-I in Patients With Advanced Retinitis Pigmentosa Completed NCT04919473 Phase 1, Phase 2
35 Investigation of Effectiveness and Safety of High Dose Docosahexaenoic Acid (DHA) in X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
36 A Prospective, Multicenter, Open-Label, Single-Arm Study of the Safety and Tolerability of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT02320812 Phase 1, Phase 2
37 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
38 A Phase II Multiple Site, Randomized, Placebo-Controlled Trial of Oral Valproic Acid for Autosomal Dominant Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
39 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
40 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
41 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Completed NCT01530659 Phase 2 NT-501
42 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
43 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
44 Open-label, Multiple Dose, Dose Escalation Study to Evaluate the Safety/Tolerability and Efficacy of EA-2353 in Subjects With Retinitis Pigmentosa Recruiting NCT05392751 Phase 1, Phase 2 EA-2353
45 Phase 1/2, Safety and Efficacy Trial of BS01, a Recombinant Adeno-Associated Virus Vector Expressing ChronosFP in Patients With Retinitis Pigmentosa Recruiting NCT04278131 Phase 1, Phase 2 BS01
46 A Phase 1/2 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) and a Phase 2 Randomized, Controlled, Masked, Multi-center Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene Recruiting NCT03316560 Phase 1, Phase 2
47 Investigation of Therapeutic Efficacy and Safety of Umbilical Cord Derived Mesenchymal Stem Cells (UMSCs) for the Management of Retinitis Pigmentosa (RP) Recruiting NCT04763369 Phase 2
48 A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
49 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein) Recruiting NCT04120883 Phase 1, Phase 2 Hydroxychloroquine lower dose;Hydroxychloroquine higher dose
50 Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome Recruiting NCT04355689 Phase 1, Phase 2 NPI-001

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 28 CRX
2 Cone-Rod Dystrophy 28 PRPH2
Sources

Anatomical Context for Cone-Rod Dystrophy 2

About this section

Organs/tissues related to Cone-Rod Dystrophy 2:

MalaCards : Spinal Cord, Eye, Retina, Bone Marrow, Bone, Brain, Dorsal Root Ganglion
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

About this section

Articles related to Cone-Rod Dystrophy 2:

(show top 50) (show all 31475)
# 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. 53 62 57 5
9390563 1997
2
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. 62 57 5
15531334 2004
3
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. 53 62 5
17320181 2007
4
RPGR mutation analysis and disease: an update. 53 62 5
17195164 2007
5
Novel frameshift mutations in CRX associated with Leber congenital amaurosis. 53 62 5
11748859 2001
6
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 53 62 5
11139241 2001
7
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. 53 62 5
11115851 2000
8
Biochemical defects in ABCR protein variants associated with human retinopathies. 53 62 5
11017087 2000
9
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 53 62 5
10958761 2000
10
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 53 62 5
9792858 1998
11
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 53 62 5
9425234 1998
12
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 62 5
31630094 2020
13
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. 62 5
32533067 2020
14
DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1. 62 5
29200130 2020
15
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). 62 5
31456290 2020
16
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. 62 5
31215831 2019
17
Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy. 62 5
31074760 2019
18
Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. 62 5
31645972 2019
19
MERTK mutation update in inherited retinal diseases. 62 5
29659094 2018
20
A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus. 62 5
29550188 2018
21
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. 62 5
29555955 2018
22
CDHR1 mutations in retinal dystrophies. 62 5
28765526 2017
23
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. 62 57
28460050 2017
24
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. 62 5
28456785 2017
25
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 62 5
26992781 2016
26
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. 62 5
26153215 2016
27
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. 62 5
26780318 2016
28
Alström Syndrome: Mutation Spectrum of ALMS1. 62 5
25846608 2015
29
Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy. 62 5
25611614 2015
30
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. 62 5
26682157 2015
31
The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype. 62 5
25270190 2014
32
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? 62 5
24875811 2014
33
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 62 5
25082885 2014
34
Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes. 62 5
24618324 2014
35
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 62 5
24154662 2014
36
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 62 5
24474277 2014
37
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 62 5
23755871 2013
38
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. 62 5
22968130 2013
39
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. 62 5
23940504 2013
40
Genes and mutations in autosomal dominant cone and cone-rod dystrophy. 62 5
22183351 2012
41
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors. 62 5
21330655 2011
42
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. 62 5
20956273 2011
43
Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. 62 5
20859302 2011
44
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. 62 5
20554613 2010
45
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. 62 5
20805371 2010
46
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy. 62 5
19578027 2009
47
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 62 5
18285826 2008
48
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. 62 5
17325136 2007
49
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 62 5
15024725 2004
50
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 62 5
12552567 2003
Sources

Variations for Cone-Rod Dystrophy 2

About this section

ClinVar genetic disease variations for Cone-Rod Dystrophy 2:

5 (show top 50) (show all 5610)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROM1 NM_006017.3(PROM1):c.2077-521A>G SNV Pathogenic
 190373 rs796051882 GRCh37: 4:15989860-15989860
GRCh38: 4:15988237-15988237
2 CRB1 NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) SNV Pathogenic
 191357 rs863223341 GRCh37: 1:197398685-197398685
GRCh38: 1:197429555-197429555
3 PCARE NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter) SNV Pathogenic
 191360 rs863223344 GRCh37: 2:29296416-29296416
GRCh38: 2:29073550-29073550
4 RP1 NM_006269.2(RP1):c.679T>G (p.Phe227Val) SNV Pathogenic
 191355 rs863223340 GRCh37: 8:55534740-55534740
GRCh38: 8:54622180-54622180
5 CRB1 NM_201253.3(CRB1):c.1459dup (p.Ser487fs) DUP Pathogenic
 191358 rs863223342 GRCh37: 1:197390414-197390415
GRCh38: 1:197421284-197421285
6 ABCA4 NM_000350.3(ABCA4):c.2927del (p.Leu976fs) DEL Pathogenic
 191353 rs863223338 GRCh37: 1:94510292-94510292
GRCh38: 1:94044736-94044736
7 IFT140 NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) SNV Pathogenic
 191356 rs779007169 GRCh37: 16:1570178-1570178
GRCh38: 16:1520177-1520177
8 PANK2 NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser) SNV Pathogenic
 191359 rs863223343 GRCh37: 20:3893161-3893161
GRCh38: 20:3912514-3912514
9 PDE6B-AS1, PDE6B NM_000283.4(PDE6B):c.1060-1G>T SNV Pathogenic
 191354 rs863223339 GRCh37: 4:650033-650033
GRCh38: 4:656244-656244
10 CRX NM_000554.6(CRX):c.502del (p.Glu168fs) DEL Pathogenic
 7417 rs1568626209 GRCh37: 19:48342826-48342826
GRCh38: 19:47839569-47839569
11 CRX NM_000554.6(CRX):c.615del (p.Ser206fs) DEL Pathogenic
Uncertain Significance
 99618 rs281865516 GRCh37: 19:48342935-48342935
GRCh38: 19:47839678-47839678
12 USH2A NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg) SNV Pathogenic
 143185 rs527236118 GRCh37: 1:215972456-215972456
GRCh38: 1:215799114-215799114
13 EYS NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) SNV Pathogenic
 143111 rs527236064 GRCh37: 6:64488004-64488004
GRCh38: 6:63778111-63778111
14 USH2A NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) SNV Pathogenic
 143169 rs527236119 GRCh37: 1:215956121-215956121
GRCh38: 1:215782779-215782779
15 SNRNP200 NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu) SNV Pathogenic
 143145 rs527236114 GRCh37: 2:96958823-96958823
GRCh38: 2:96293085-96293085
16 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic
 7362 rs121909076 GRCh37: 6:35471593-35471593
GRCh38: 6:35503816-35503816
17 CRX NM_000554.6(CRX):c.193G>C (p.Asp65His) SNV Pathogenic
 143085 rs527236062 GRCh37: 19:48339592-48339592
GRCh38: 19:47836335-47836335
18 RHO NM_000539.3(RHO):c.520G>A (p.Gly174Ser) SNV Pathogenic
 143080 rs527236103 GRCh37: 3:129249877-129249877
GRCh38: 3:129531034-129531034
19 PRPH2 NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) SNV Pathogenic
 98706 rs61755817 GRCh37: 6:42672195-42672195
GRCh38: 6:42704457-42704457
20 PDE6B-AS1, PDE6B NM_000283.4(PDE6B):c.1467+1G>C SNV Pathogenic
 143065 rs527236089 GRCh37: 4:652807-652807
GRCh38: 4:659018-659018
21 RP1 NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) DEL Pathogenic
 437950 rs1554519546 GRCh37: 8:55538610-55538623
GRCh38: 8:54626050-54626063
22 ABCA4 NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) SNV Pathogenic
 438088 rs1553192726 GRCh37: 1:94528871-94528871
GRCh38: 1:94063315-94063315
23 CNGA1, LOC101927157 NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter) SNV Pathogenic
 438165 rs567961453 GRCh37: 4:47938833-47938833
GRCh38: 4:47936816-47936816
24 PROM1 NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) SNV Pathogenic
 5609 rs137853005 GRCh37: 4:15995651-15995651
GRCh38: 4:15994028-15994028
25 RPGR NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs) MICROSAT Pathogenic
 438138 rs1555964133 GRCh37: X:38156578-38156579
GRCh38: X:38297325-38297326
26 RP1 NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) SNV Pathogenic
 437948 rs1554519533 GRCh37: 8:55538498-55538498
GRCh38: 8:54625938-54625938
27 TOPORS NM_005802.5(TOPORS):c.2569del (p.Arg857fs) DEL Pathogenic
 438067 rs1554671407 GRCh37: 9:32541954-32541954
GRCh38: 9:32541956-32541956
28 ABCA4 NM_000350.3(ABCA4):c.5836-3C>A SNV Pathogenic
 417993 rs1064793013 GRCh37: 1:94473856-94473856
GRCh38: 1:94008300-94008300
29 PDE6B NM_000283.4(PDE6B):c.2021+2T>G SNV Pathogenic
 802044 rs1577301589 GRCh37: 4:657661-657661
GRCh38: 4:663872-663872
30 PDE6B NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter) SNV Pathogenic
 802045 rs1577311264 GRCh37: 4:661734-661734
GRCh38: 4:667945-667945
31 CNGB1 NM_001297.5(CNGB1):c.1122-2A>T SNV Pathogenic
 803261 rs1596997875 GRCh37: 16:57974227-57974227
GRCh38: 16:57940323-57940323
32 RPGR NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) MICROSAT Pathogenic
 803964 rs1601917999 GRCh37: X:38145147-38145148
GRCh38: X:38285894-38285895
33 PRPF31-AS1, PRPF31 NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) DEL Pathogenic
 804152 rs1600324442 GRCh37: 19:54621744-54621747
GRCh38: 19:54118364-54118367
34 PRPF31-AS1, PRPF31 NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) SNV Pathogenic
 804153 rs1439576531 GRCh37: 19:54621823-54621823
GRCh38: 19:54118443-54118443
35 PRPF31-AS1, PRPF31 NM_015629.4(PRPF31):c.322+1G>A SNV Pathogenic
 804154 rs1600335289 GRCh37: 19:54625323-54625323
GRCh38: 19:54121944-54121944
36 PRPF31-AS1, PRPF31 NM_015629.4(PRPF31):c.335del (p.Lys112fs) DEL Pathogenic
 804157 rs1600337158 GRCh37: 19:54625887-54625887
GRCh38: 19:54122508-54122508
37 PRPF31-AS1, PRPF31 NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) SNV Pathogenic
 804158 rs764232082 GRCh37: 19:54627173-54627173
GRCh38: 19:54123794-54123794
38 PRPF31-AS1, PRPF31 NM_015629.4(PRPF31):c.856-1G>A SNV Pathogenic
 804159 rs1600350656 GRCh37: 19:54629902-54629902
GRCh38: 19:54126527-54126527
39 PRPF31 NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) SNV Pathogenic
 546035 rs1555794205 GRCh37: 19:54631494-54631494
GRCh38: 19:54128119-54128119
40 ABCA4 NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs) DEL Pathogenic
 812199 rs1571253050 GRCh37: 1:94480223-94480226
GRCh38: 1:94014667-94014670
41 ADAM9 NM_003816.3(ADAM9):c.1087T>A (p.Cys363Ser) SNV Pathogenic
 812213 rs1588350497 GRCh37: 8:38884286-38884286
GRCh38: 8:39026767-39026767
42 AGBL5 NM_021831.6(AGBL5):c.1787_1788del (p.His596fs) DEL Pathogenic
 812217 rs1285501658 GRCh37: 2:27281383-27281384
GRCh38: 2:27058515-27058516
43 PCARE NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter) SNV Pathogenic
 812238 rs774215025 GRCh37: 2:29294178-29294178
GRCh38: 2:29071312-29071312
44 PCARE NM_001029883.3(PCARE):c.776_777del (p.Glu259fs) MICROSAT Pathogenic
 812239 rs1572829514 GRCh37: 2:29296351-29296352
GRCh38: 2:29073485-29073486
45 PCARE NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) SNV Pathogenic
 104 rs267606691 GRCh37: 2:29296572-29296572
GRCh38: 2:29073706-29073706
46 CFAP418 NM_177965.4(CFAP418):c.545A>G (p.Gln182Arg) SNV Pathogenic
 31195 rs387907137 GRCh37: 8:96259924-96259924
GRCh38: 8:95247696-95247696
47 CRB1 NM_201253.3(CRB1):c.424G>T (p.Gly142Ter) SNV Pathogenic
 812295 rs1571848659 GRCh37: 1:197297905-197297905
GRCh38: 1:197328775-197328775
48 IMPG2 NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) SNV Pathogenic
 191180 rs786205564 GRCh37: 3:100962901-100962901
GRCh38: 3:101244057-101244057
49 IMPG2 NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter) SNV Pathogenic
 3546 rs267606874 GRCh37: 3:100994538-100994538
GRCh38: 3:101275694-101275694
50 MAK NM_001242957.3(MAK):c.393delinsACCTT (p.Leu132fs) INDEL Pathogenic
 812347 rs1581727126 GRCh37: 6:10809141-10809141
GRCh38: 6:10808908-10808908

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:

6
# 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
Sources

Expression for Cone-Rod Dystrophy 2

About this section
Search GEO for disease gene expression data for Cone-Rod Dystrophy 2.
Sources

Pathways for Cone-Rod Dystrophy 2

About this section

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

# Super pathways Score Top Affiliating Genes
1
Bardet-Biedl syndrome 74
Show member pathways
 11.47 CRX CFAP418 CFAP410
2
Ciliopathies 74
11.15 TTLL5 RPGRIP1 RAB28 POC1B CRX CFAP410
3
Visual Cycle in Retinal Rods 64
11.1 GUCY2D GUCA1A CNGA3
4
Visual signal transduction: Cones 61
10.62 GUCY2D CNGA3
Sources

GO Terms for Cone-Rod Dystrophy 2

About this section

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.92 RPGR RAB28 POC1B CFAP410
2 photoreceptor inner segment GO:0001917 9.85 PRPH2 GUCA1A CFAP418
3 photoreceptor disc membrane GO:0097381 9.73 GUCY2D GUCA1A ABCA4
4 cell projection GO:0042995 9.7 ABCA4 CFAP410 GUCA1A GUCY2D POC1B PROM1
5 photoreceptor outer segment membrane GO:0042622 9.63 PROM1 GUCY2D CDHR1
6 photoreceptor outer segment GO:0001750 9.5 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 photoreceptor cell maintenance GO:0045494 9.8 PROM1 CDHR1 ABCA4
2 retina development in camera-type eye GO:0060041 9.77 TTLL5 RPGRIP1 PRPH2
3 response to stimulus GO:0050896 9.73 ABCA4 CACNA1F CNGA3 CRX GUCA1A GUCY2D
4 photoreceptor cell outer segment organization GO:0035845 9.71 PRPH2 CDHR1
5 detection of light stimulus involved in visual perception GO:0050908 9.63 PRPH2 CACNA2D4 CACNA1F
6 visual perception GO:0007601 9.58 RPGRIP1 RPGR PRPH2 GUCY2D GUCA1A CRX
7 photoreceptor cell morphogenesis GO:0008594 9.56 CFAP418 CDHR1
Sources

Sources for Cone-Rod Dystrophy 2

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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
Content
Loading form....