CORD2
MCID: CNR002
MIFTS: 64

Cone-Rod Dystrophy (CORD2) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Cone-Rod Dystrophy

Aliases & Descriptions for Cone-Rod Dystrophy:

Name: Cone-Rod Dystrophy 54 38 12 50 24 25 13 13 13 52 14
Cone-Rod Dystrophy 2 12 50 24 66 29 69
Cord2 12 50 24 66
Cone-Rod Retinal Dystrophy 2 12 50 66
Crd2 12 50 66
Cone-Rod Retinal Dystrophy-2 54 13
Retinal Cone-Rod Dystrophy 2 12 50
Cone-Rod Retinal Dystrophy 12 25
Tapetoretinal Degeneration 25 29
Rcrd2 12 50
Progressive Cone-Rod Dystrophy 69
Retinal Cone-Rod Dystrophy 25
Retinitis Pigmentosa 2 69
Cone-Rod Degeneration 25
Retinitis Pigmentosa 69
Cone Rod Dystrophy 29
Cord 25
Crd 25

Characteristics:

HPO:

32
cone-rod dystrophy:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 120970
Disease Ontology 12 DOID:0050572 DOID:0111005
ICD10 33 H35.5 G95.2
MeSH 42 D058499

Summaries for Cone-Rod Dystrophy

OMIM : 54 Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and... (120970) more...

MalaCards based summary : Cone-Rod Dystrophy, also known as cone-rod dystrophy 2, is related to cone-rod dystrophy 3 and spondylometaphyseal dysplasia with cone-rod dystrophy, and has symptoms including photophobia, visual impairment and abnormality of retinal pigmentation. An important gene associated with Cone-Rod Dystrophy is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Phototransduction and Development_Thrombopoetin signaling via JAK-STAT pathway. The drugs Lutein and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are nervous system and cardiovascular system

NIH Rare Diseases : 50 cone-rod dystrophies (crds) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). in contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). these signs are usually followed by progressive loss of peripheral vision and night blindness. most cases occur due to mutations in any one of several genes, and crds can be inherited as autosomal recessive, autosomal dominant, x-linked or mitochondrial (maternally-inherited) traits. crds are usually non-syndromic, but they may also be part of several syndromes. currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness. last updated: 5/23/2011

UniProtKB/Swiss-Prot : 66 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.

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.

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

Related Diseases for Cone-Rod Dystrophy

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

(show top 50) (show all 218)
id Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 3 12.6
2 spondylometaphyseal dysplasia with cone-rod dystrophy 12.6
3 cone-rod dystrophy 9 12.6
4 cone-rod dystrophy 7 12.6
5 cone-rod dystrophy, x-linked, 1 12.6
6 cone-rod dystrophy 16 12.5
7 cone-rod dystrophy 5 12.5
8 cone-rod dystrophy 18 12.5
9 cone-rod dystrophy 20 12.5
10 cone-rod dystrophy 19 12.5
11 cone-rod dystrophy 15 12.5
12 cone-rod dystrophy 11 12.5
13 cone-rod dystrophy 12 12.5
14 cone-rod dystrophy 13 12.5
15 cone-rod dystrophy 10 12.5
16 cone-rod dystrophy 6 12.5
17 cone-rod dystrophy 21 12.4
18 cone-rod dystrophy 17 12.4
19 cone-rod dystrophy 1 12.4
20 cone-rod dystrophy 8 12.4
21 x-linked cone-rod dystrophy 2 12.4
22 spinal cord injury 12.3
23 spinal cord disease 12.2
24 leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation 12.2
25 jalili syndrome 12.2
26 sex cord-gonadal stromal tumor 12.1
27 tethered spinal cord syndrome 12.1
28 spinal cord lymphoma 12.1
29 cone-rod dystrophy, aipl1-related 12.1
30 cone-rod dystrophy, prph2-related 12.1
31 cone-rod dystrophy, unc119-related 12.1
32 cone-rod dystrophy 4 12.1
33 spinal cord ependymoma 12.0
34 tethered cord syndrome 12.0
35 spinal cord glioma 12.0
36 spermatic cord torsion 12.0
37 spinal cord infarction 12.0
38 cone-rod dystropy, x-linked, 3 12.0
39 central cord syndrome 12.0
40 tapetoretinal degeneration with ataxia 12.0
41 split spinal cord malformation 12.0
42 umbilical cord ulceration and intestinal atresia 12.0
43 spinal cord lipoma 12.0
44 hypomyelination with brainstem and spinal cord involvement and leg spasticity 12.0
45 cerebellar hypoplasia tapetoretinal degeneration 12.0
46 ovarian sex cord tumor with annular tubules 12.0
47 central cervical cord syndrome 12.0
48 charcot-marie-tooth disease, axonal, with vocal cord paresis 11.9
49 spermatic cord cancer 11.9
50 spinal cord astrocytoma 11.9

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



Diseases related to Cone-Rod Dystrophy

Symptoms & Phenotypes for Cone-Rod Dystrophy

Symptoms by clinical synopsis from OMIM:

120970

Clinical features from OMIM:

120970

Human phenotypes related to Cone-Rod Dystrophy:

32 (show all 11)
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 visual impairment 32 HP:0000505
3 abnormality of retinal pigmentation 32 HP:0007703
4 blindness 32 HP:0000618
5 reduced visual acuity 32 HP:0007663
6 abnormality of color vision 32 HP:0000551
7 peripheral visual field loss 32 HP:0007994
8 constriction of peripheral visual field 32 HP:0001133
9 chorioretinal atrophy 32 HP:0000533
10 cone/cone-rod dystrophy 32 HP:0000548
11 nyctalopia 32 HP:0000662

MGI Mouse Phenotypes related to Cone-Rod Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.93 ABCA4 AIPL1 CRX GNAT2 GUCA1A GUCY2D
2 cardiovascular system MP:0005385 9.91 ABCA4 ADAM9 CRX GNAT2 PCYT1A PROM1
3 pigmentation MP:0001186 9.56 ABCA4 ADAM9 CRX PROM1 PRPH2 RPGR
4 vision/eye MP:0005391 9.5 GUCA1A GUCY2D PROM1 PRPH2 RPGR RPGRIP1

Drugs & Therapeutics for Cone-Rod Dystrophy

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

(show top 50) (show all 115)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159 5368396
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 11103-57-4, 68-26-8 445354
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
4 Antioxidants Phase 3,Phase 2,Phase 1
5 Bone Density Conservation Agents Phase 3
6 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
7 Protective Agents Phase 3,Phase 2,Phase 1
8 Retinol palmitate Phase 3,Phase 1
9 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
10 vitamin d Phase 3
11 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
12 Tocopherols Phase 3
13 Tocotrienols Phase 3
14 Antihypertensive Agents Phase 3,Phase 1,Phase 2
15 Carotenoids Phase 2, Phase 3,Phase 1
16 Isopropyl unoprostone Phase 3
17 retinol Nutraceutical Phase 3,Phase 1
18 Tocopherol Nutraceutical Phase 3
19 Tocotrienol Nutraceutical Phase 3
20 Beta Carotene Nutraceutical Phase 2, Phase 3,Phase 1
21
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
22
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
23
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
24
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
25
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
26
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
27
Carbidopa Approved Phase 2 28860-95-9 34359 38101
28
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
29
Levodopa Approved Phase 2 59-92-7 6047
30
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
31
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
32 Autonomic Agents Phase 1, Phase 2
33 Mitogens Phase 1, Phase 2
34 Nasal Decongestants Phase 1, Phase 2
35 Ophthalmic Solutions Phase 1, Phase 2
36 Peripheral Nervous System Agents Phase 1, Phase 2
37 Pharmaceutical Solutions Phase 1, Phase 2
38 Respiratory System Agents Phase 1, Phase 2
39 Tetrahydrozoline Phase 1, Phase 2
40 Vasoconstrictor Agents Phase 1, Phase 2
41 Anti-Infective Agents Phase 1, Phase 2
42 cadexomer iodine Phase 2,Phase 1
43
Iodine Phase 2,Phase 1 7553-56-2 807
44 Povidone Phase 2,Phase 1
45 Proxymetacaine Phase 2,Phase 1
46 Anticonvulsants Phase 2
47 Antimanic Agents Phase 2
48 Central Nervous System Depressants Phase 2
49 GABA Agents Phase 2
50 Neurotransmitter Agents Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 129)
id Name Status NCT ID Phase
1 The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction Completed NCT00717080 Phase 4
2 Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A Completed NCT00346333 Phase 3
3 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3
4 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3
5 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
6 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
7 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3
8 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
9 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2
10 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
11 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2
12 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2
13 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
14 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2
15 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2
16 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2
17 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2
18 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2
19 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2
20 Feasibility Study of a Chronic Retinal Stimulator in Retinitis Pigmentosa Completed NCT00279500 Phase 1, Phase 2
21 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2
22 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
23 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2
24 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 1, Phase 2
25 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
26 RST-001 Phase I/II Trial for Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2
27 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Recruiting NCT03073733 Phase 2
28 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Recruiting NCT02739217 Phase 2
29 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2
30 Electro-acupuncture and Transcorneal Electrical Stimulation (TES) for the Treatment of Vision Loss Due to Retinitis Pigmentosa Active, not recruiting NCT02086890 Phase 1, Phase 2
31 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Active, not recruiting NCT02320812 Phase 1, Phase 2
32 Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema Active, not recruiting NCT02609165 Phase 2
33 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2
34 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
35 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
36 Gene Therapy for Blindness Caused by Choroideremia Active, not recruiting NCT01461213 Phase 1, Phase 2
37 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
38 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Enrolling by invitation NCT02804360 Phase 2
39 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2
40 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
41 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2
42 Feasibility and Safety of Adult Human Bone Marrow-derived Mesenchymal Stem Cells by Intravitreal Injection in Patients With Retinitis Pigmentosa Unknown status NCT01531348 Phase 1
43 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01068561 Phase 1
44 Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa Completed NCT01604356 Phase 1
45 Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 Phase 1
46 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1
47 Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65) Completed NCT01543906 Phase 1
48 Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye Completed NCT00063765 Phase 1
49 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1
50 Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations Completed NCT01014052 Phase 1

Search NIH Clinical Center for Cone-Rod Dystrophy

Cell-based therapeutics:


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

Genetic Tests for Cone-Rod Dystrophy

Genetic tests related to Cone-Rod Dystrophy:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 2 29 24 CRX
2 Cone-Rod Dystrophy 29 24
3 Tapetoretinal Degeneration 29

Anatomical Context for Cone-Rod Dystrophy

MalaCards organs/tissues related to Cone-Rod Dystrophy:

39
Retina, Eye, Bone, Testes
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cone-Rod Dystrophy:
id 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

Publications for Cone-Rod Dystrophy

Articles related to Cone-Rod Dystrophy:

(show top 50) (show all 195)
id Title Authors Year
1
Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy. ( 28378834 )
2017
2
A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy. ( 28388261 )
2017
3
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. ( 27176872 )
2016
4
Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy. ( 26427426 )
2016
5
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. ( 27588451 )
2016
6
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. ( 27548899 )
2016
7
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. ( 26865426 )
2016
8
Mizuo-Nakamura phenomenon in cone-rod dystrophy. ( 27813202 )
2016
9
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. ( 26992781 )
2016
10
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. ( 26780318 )
2016
11
Stem Cell-Derived Photoreceptor Transplants Differentially Integrate Into Mouse Models of Cone-Rod Dystrophy. ( 27367586 )
2016
12
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. ( 26854980 )
2016
13
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. ( 26077327 )
2015
14
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. ( 26153215 )
2015
15
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. ( 26010121 )
2015
16
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. ( 26103963 )
2015
17
GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. ( 26298565 )
2015
18
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. ( 26702251 )
2015
19
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. ( 26682157 )
2015
20
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. ( 25515582 )
2015
21
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy. ( 25873014 )
2015
22
Pediatric Cone-rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations. ( 24547909 )
2014
23
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations. ( 24778606 )
2014
24
Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene. ( 24352742 )
2014
25
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? ( 24875811 )
2014
26
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. ( 25018096 )
2014
27
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy. ( 24476460 )
2014
28
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. ( 24903488 )
2014
29
Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene. ( 24652164 )
2014
30
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. ( 24387990 )
2014
31
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy. ( 25356532 )
2014
32
Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis. ( 24771178 )
2014
33
Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. ( 25546566 )
2014
34
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. ( 24387991 )
2014
35
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. ( 25091951 )
2014
36
Novel Recessive Cone-Rod Dystrophy Caused by POC1B Mutation. ( 24945461 )
2014
37
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. ( 25052312 )
2014
38
Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model. ( 25274777 )
2014
39
The Prevalence of Macular Cysts in Patients with Clinical Cone-Rod Dystrophy Determined by Spectral-Domain Optical Coherence Tomography. ( 23758497 )
2013
40
Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram. ( 24008410 )
2013
41
Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. ( 23563732 )
2013
42
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. ( 22929024 )
2013
43
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. ( 23746546 )
2013
44
Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy. ( 24091916 )
2013
45
Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D. ( 23686677 )
2013
46
Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients. ( 23648999 )
2013
47
RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. ( 23472098 )
2013
48
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. ( 24124559 )
2013
49
Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy. ( 23428504 )
2013
50
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. ( 23776498 )
2013

Variations for Cone-Rod Dystrophy

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

66
id Symbol AA change Variation ID SNP ID
1 CRX p.Arg41Trp VAR_003750 rs104894672
2 CRX p.Glu80Ala VAR_003751 rs28939682
3 CRX p.Val242Met VAR_007949 rs61748459

ClinVar genetic disease variations for Cone-Rod Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh37 Chromosome 17, 26879407: 26879407
2 CRX NM_000554.5(CRX): c.239A> C (p.Glu80Ala) single nucleotide variant Pathogenic rs104894671 GRCh37 Chromosome 19, 48339638: 48339638
3 CRX CRX, 1-BP DEL, 502G deletion Pathogenic
4 CRX NM_000554.5(CRX): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs104894672 GRCh37 Chromosome 19, 48339520: 48339520
5 CRX NM_000554.5(CRX): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic rs61748436 GRCh37 Chromosome 19, 48339521: 48339521
6 CRX CRX, 1-BP DEL, 615C deletion Pathogenic
7 CRX CRX, 3-BP DEL/2-BP INS, NT816 indel Pathogenic
8 PROM1 NM_006017.2(PROM1): c.2077-521A> G single nucleotide variant Pathogenic rs796051882 GRCh37 Chromosome 4, 15989860: 15989860

Copy number variations for Cone-Rod Dystrophy from CNVD:

7
id CNVD ID Chromosom 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

Expression for Cone-Rod Dystrophy

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

Pathways for Cone-Rod Dystrophy

GO Terms for Cone-Rod Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.43 AIPL1 GNAT2 GUCA1A
2 photoreceptor disc membrane GO:0097381 9.33 ABCA4 GUCA1A GUCY2D
3 photoreceptor outer segment membrane GO:0042622 9.13 CDHR1 GNAT2 PROM1
4 photoreceptor outer segment GO:0001750 9.1 ABCA4 GNAT2 GUCA1A PROM1 PRPH2 RPGR

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

id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.7 ABCA4 AIPL1 CNNM4 CRX GNAT2 GUCA1A
2 photoreceptor cell maintenance GO:0045494 9.43 ABCA4 CDHR1 PROM1
3 visual perception GO:0007601 9.4 ABCA4 AIPL1 CNNM4 CRX GNAT2 GUCA1A
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.37 GUCA1A GUCY2D
5 phototransduction GO:0007602 9.33 GNAT2 GUCA1A UNC119
6 phototransduction, visible light GO:0007603 9.32 ABCA4 AIPL1

Sources for Cone-Rod Dystrophy

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