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CORD2
MCID: CNR004
MIFTS: 67

Cone-Rod Dystrophy 2 (CORD2)

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

Aliases & Classifications for Cone-Rod Dystrophy 2

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MalaCards integrated aliases for Cone-Rod Dystrophy 2:

Name: Cone-Rod Dystrophy 2 57 12 53 75 29 6 38 73
Cone-Rod Dystrophy 57 38 12 76 53 25 29 13 55 6 15
Cord2 57 12 53 75
Cone-Rod Retinal Dystrophy 2 12 53 75
Cone-Rod Retinal Dystrophy 57 12 25
Rcrd2 57 12 53
Crd2 12 53 75
Cone-Rod Retinal Dystrophy-2 57 13
Retinal Cone-Rod Dystrophy 2 12 53
Retinal Cone-Rod Dystrophy 57 25
Cord 57 25
Crd 57 25
Cone-Rod Retinal Dystrophy; Crd; Crd2 57
Retinal Cone-Rod Dystrophy; Rcrd2 57
Progressive Cone-Rod Dystrophy 73
Dystrophy, Cone-Rod, Type 2 40
Tapetoretinal Degeneration 25
Cone-Rod Dystrophy; Cord 57
Retinitis Pigmentosa 2 73
Cone-Rod Degeneration 25
Retinitis Pigmentosa 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (19q13.1-q13.2)


HPO:

32
cone-rod dystrophy 2:
Inheritance autosomal dominant inheritance


Classifications:

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


Sources

Summaries for Cone-Rod Dystrophy 2

About this section
NIH Rare Diseases : 53 Cone-rod dystrophy (CRD) is a group of inheritedeye 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.

MalaCards based summary : Cone-Rod Dystrophy 2, also known as cone-rod dystrophy, is related to retinitis pigmentosa 3 and jalili syndrome. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Lutein and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are chorioretinal atrophy and cone/cone-rod dystrophy

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)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 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

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

(show top 50) (show all 278)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 3 33.4 ABCA4 RPGR RPGRIP1
2 jalili syndrome 32.8 CNNM4 GNAT2
3 retinitis 31.6 PRPH2 RHO RPGR RPGRIP1
4 leber congenital amaurosis 4 31.3 AIPL1 CRX GUCY2D RPE65
5 fundus dystrophy 28.5 ABCA4 AIPL1 CNNM4 CRX GNAT2 GUCA1A
6 retinitis pigmentosa 28.5 ABCA4 AIPL1 CRX GUCA1A GUCY2D PROM1
7 spondylometaphyseal dysplasia with cone-rod dystrophy 12.8
8 cone-rod dystrophy 3 12.7
9 cone-rod dystrophy 9 12.7
10 cone-rod dystrophy 7 12.7
11 cone-rod dystrophy and hearing loss 12.7
12 cone-rod dystrophy, x-linked, 1 12.6
13 cone-rod dystrophy, x-linked, 3 12.6
14 spinal cord injury 12.4
15 spinal cord disease 12.3
16 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 12.3
17 sex cord-gonadal stromal tumor 12.3
18 tethered spinal cord syndrome 12.3
19 hypomyelination with brainstem and spinal cord involvement and leg spasticity 12.2
20 tethered cord syndrome 12.2
21 spinal cord ependymoma 12.2
22 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration 12.2
23 spinal cord glioma 12.1
24 split spinal cord malformation 12.1
25 spinal cord infarction 12.1
26 spinal cord lymphoma 12.1
27 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive 12.1
28 central cord syndrome 12.1
29 tapetoretinal degeneration with ataxia 12.1
30 umbilical cord ulceration and intestinal atresia 12.1
31 distal myopathy with vocal cord weakness 12.1
32 spinal cord lipoma 12.1
33 ovarian sex cord tumor with annular tubules 12.1
34 cerebellar hypoplasia tapetoretinal degeneration 12.1
35 central cervical cord syndrome 12.1
36 spinal cancer 12.0
37 spermatic cord cancer 12.0
38 spinal cord astrocytoma 12.0
39 spinal cord melanoma 12.0
40 spinal cord oligodendroglioma 12.0
41 mixed germ cell-sex cord neoplasm 12.0
42 spinal cord primitive neuroectodermal neoplasm 12.0
43 lipoma of spermatic cord 11.9
44 spinal cord sarcoma 11.9
45 primary tethered cord syndrome 11.9
46 idiopathic spinal cord herniation 11.9
47 adult spinal cord glioblastoma multiforme 11.8
48 childhood spinal cord tumor 11.8
49 spinal cord neuroblastoma 11.8
50 spinal cord dermoid cyst 11.8

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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Symptoms via clinical synopsis from OMIM:

57
Eyes:
cone-rod retinal dystrophy
initial color vision and visual acuity loss
night blindness
peripheral visual field loss
widespread retinal pigmentation
more

Clinical features from OMIM:

120970

Human phenotypes related to Cone-Rod Dystrophy 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 chorioretinal atrophy 32 HP:0000533
2 cone/cone-rod dystrophy 32 HP:0000548
3 abnormality of color vision 32 HP:0000551
4 blindness 32 HP:0000618
5 nyctalopia 32 HP:0000662
6 reduced visual acuity 32 HP:0007663
7 peripheral visual field loss 32 HP:0007994

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 GNAT2 GUCA1A GUCY2D PROM1 PRPH2 RHO
2 cardiovascular system MP:0005385 9.96 ABCA4 CRX GNAT2 PROM1 PRPH2 RHO
3 pigmentation MP:0001186 9.65 ABCA4 CRX PROM1 PRPH2 RHO RPE65
4 vision/eye MP:0005391 9.53 AIPL1 CNNM4 CRX GNAT2 GUCA1A GUCY2D
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 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 11103-57-4, 68-26-8 445354
4
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
6
Beta carotene Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7235-40-7
7 Hormone Antagonists Phase 2, Phase 3
8 Hormones Phase 2, Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
10 Retinol palmitate Phase 3,Phase 1
11 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
12 Tocopherols Phase 3
13 Tocotrienols Phase 3
14 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
15 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
16 Antihypertensive Agents Phase 3,Phase 1,Phase 2
17 Antioxidants Phase 3,Phase 2,Phase 1
18 Protective Agents Phase 3,Phase 2,Phase 1
19 Bone Density Conservation Agents Phase 3
20 alpha-MSH Phase 2, Phase 3 581-05-5
21 Carotenoids Phase 2, Phase 3,Phase 1
22 Isopropyl unoprostone Phase 3
23 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
24 retinol Nutraceutical Phase 3,Phase 1
25
Ephedrine Approved Phase 1, Phase 2,Phase 2 299-42-3 9294
26
Pseudoephedrine Approved Phase 1, Phase 2,Phase 2 90-82-4 7028
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
28
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
29
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
30
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
31
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
32
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
33
Povidone Approved Phase 2,Phase 1 9003-39-8
34
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
35
Carbidopa Approved Phase 2 28860-95-9 34359 38101
36
Levodopa Approved Phase 2 59-92-7 6047
37
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
38 Dexamethasone acetate Phase 2 1177-87-3
39 glucocorticoids Phase 2
40
protease inhibitors Phase 2
41 Respiratory System Agents Phase 1, Phase 2,Phase 2
42 Mitogens Phase 1, Phase 2,Phase 2
43 Gastrointestinal Agents Phase 2
44 Nasal Decongestants Phase 1, Phase 2,Phase 2
45 Tetrahydrozoline Phase 1, Phase 2,Phase 2,Not Applicable
46 HIV Protease Inhibitors Phase 2
47 Ophthalmic Solutions Phase 1, Phase 2,Phase 2,Not Applicable
48 Vasoconstrictor Agents Phase 1, Phase 2,Phase 2
49 Peripheral Nervous System Agents Phase 1, Phase 2,Phase 2
50 Pharmaceutical Solutions Phase 1, Phase 2,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 150)
# Name Status NCT ID Phase Drugs
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 Lutein
3 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
4 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
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 Setmelanotide
7 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
8 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
9 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo
10 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
11 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 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
12 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Unknown status NCT02804360 Phase 2
13 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
14 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
15 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
16 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
17 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
18 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
19 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
20 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
21 Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
22 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
23 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
24 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
25 Gene Therapy for Blindness Caused by Choroideremia Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
26 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
27 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
28 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2 hRPC
29 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 1, Phase 2
30 Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
31 Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR-ORF15 Mutations Recruiting NCT03316560 Phase 1, Phase 2
32 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
33 RST-001 Phase I/II Trial for Advanced Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2 RST-001
34 Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene Recruiting NCT03328130 Phase 1, Phase 2
35 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
36 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2 Aflibercept
37 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
38 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Active, not recruiting NCT03073733 Phase 2
39 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 NT-501
40 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
41 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
42 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Active, not recruiting NCT02739217 Phase 2 PBI-4050
43 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 UshStat
44 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Not yet recruiting NCT03326336 Phase 1, Phase 2
45 A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa Not yet recruiting NCT03374657 Phase 1, Phase 2
46 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
47 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 Interferon gamma-1b
48 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01068561 Phase 1
49 Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa Completed NCT01604356 Phase 1
50 Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 Phase 1

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: 23049424 21225138 19347139 23000646
Sources

Genetic Tests for Cone-Rod Dystrophy 2

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Genetic tests related to Cone-Rod Dystrophy 2:

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

Anatomical Context for Cone-Rod Dystrophy 2

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

41
Retina, Eye, Bone, Bone Marrow, Testes, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Cone-Rod Dystrophy 2

About this section

Articles related to Cone-Rod Dystrophy 2:

(show top 50) (show all 198)
# Title Authors Year
1
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta. ( 29421294 )
2018
2
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. ( 28812650 )
2017
3
Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy. ( 28378834 )
2017
4
A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy. ( 28388261 )
2017
5
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. ( 26957898 )
2016
6
Stem Cell-Derived Photoreceptor Transplants Differentially Integrate Into Mouse Models of Cone-Rod Dystrophy. ( 27367586 )
2016
7
Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy. ( 26427426 )
2016
8
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. ( 27176872 )
2016
9
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. ( 26865426 )
2016
10
Mizuo-Nakamura phenomenon in cone-rod dystrophy. ( 27813202 )
2016
11
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. ( 26992781 )
2016
12
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. ( 26780318 )
2016
13
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. ( 27588451 )
2016
14
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. ( 27548899 )
2016
15
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. ( 26854980 )
2016
16
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. ( 26153215 )
2015
17
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. ( 25515582 )
2015
18
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. ( 26010121 )
2015
19
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
20
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. ( 26682157 )
2015
21
GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. ( 26298565 )
2015
22
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy. ( 25873014 )
2015
23
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. ( 26103963 )
2015
24
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. ( 26702251 )
2015
25
Pediatric Cone-rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations. ( 24547909 )
2014
26
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. ( 24387991 )
2014
27
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. ( 25091951 )
2014
28
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. ( 24903488 )
2014
29
Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis. ( 24771178 )
2014
30
Novel Recessive Cone-Rod Dystrophy Caused by POC1B Mutation. ( 24945461 )
2014
31
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy. ( 24476460 )
2014
32
Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model. ( 25274777 )
2014
33
Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. ( 25546566 )
2014
34
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. ( 25018096 )
2014
35
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy. ( 25356532 )
2014
36
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. ( 24387990 )
2014
37
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. ( 25052312 )
2014
38
RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations. ( 24778606 )
2014
39
Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene. ( 24652164 )
2014
40
Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene. ( 24352742 )
2014
41
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? ( 24875811 )
2014
42
Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy. ( 24091916 )
2013
43
RNAi-mediated gene suppression in a GCAP1(L151F) cone-rod dystrophy mouse model. ( 23472098 )
2013
44
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. ( 23746546 )
2013
45
Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. ( 23563732 )
2013
46
Macular Cysts in Clinical Cone-rod Dystrophy. ( 24001016 )
2013
47
A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. ( 22929024 )
2013
48
Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy. ( 23428504 )
2013
49
Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D. ( 23686677 )
2013
50
Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients. ( 23648999 )
2013
Sources

Variations for Cone-Rod Dystrophy 2

About this section

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

75
# 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

ClinVar genetic disease variations for Cone-Rod Dystrophy 2:

6
(show all 13)
# 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 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh38 Chromosome 17, 28552389: 28552389
3 CRX NM_000554.5(CRX): c.239A> C (p.Glu80Ala) single nucleotide variant Pathogenic rs104894671 GRCh37 Chromosome 19, 48339638: 48339638
4 CRX NM_000554.5(CRX): c.239A> C (p.Glu80Ala) single nucleotide variant Pathogenic rs104894671 GRCh38 Chromosome 19, 47836381: 47836381
5 CRX CRX, 1-BP DEL, 502G deletion Pathogenic
6 CRX NM_000554.5(CRX): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs104894672 GRCh37 Chromosome 19, 48339520: 48339520
7 CRX NM_000554.5(CRX): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs104894672 GRCh38 Chromosome 19, 47836263: 47836263
8 CRX NM_000554.5(CRX): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61748436 GRCh37 Chromosome 19, 48339521: 48339521
9 CRX NM_000554.5(CRX): c.122G> A (p.Arg41Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61748436 GRCh38 Chromosome 19, 47836264: 47836264
10 CRX CRX, 1-BP DEL, 615C deletion Pathogenic
11 CRX CRX, 3-BP DEL/2-BP INS, NT816 indel Pathogenic
12 PROM1 NM_006017.2(PROM1): c.2077-521A> G single nucleotide variant Pathogenic rs796051882 GRCh37 Chromosome 4, 15989860: 15989860
13 PROM1 NM_006017.2(PROM1): c.2077-521A> G single nucleotide variant Pathogenic rs796051882 GRCh38 Chromosome 4, 15988237: 15988237

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

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# 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
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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
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.88 ABCA4 GUCA1A GUCY2D RHO RPE65
2
Phototransduction 37
Show member pathways
 11.55 GNAT2 GUCA1A GUCY2D RHO RPE65
3
the visual cycle I (vertebrates) 1
Show member pathways
 11.17 ABCA4 RHO RPE65
4
Visual Cycle in Retinal Rods 64
10.99 GNAT2 GUCA1A GUCY2D RHO RPE65
Sources

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 cilium GO:0005929 9.62 PROM1 RPGR RPGRIP1 TULP1
2 photoreceptor disc membrane GO:0097381 9.46 ABCA4 GUCA1A GUCY2D RHO
3 photoreceptor outer segment membrane GO:0042622 9.43 GNAT2 PROM1 RHO
4 photoreceptor inner segment GO:0001917 9.35 AIPL1 GNAT2 GUCA1A RHO TULP1
5 photoreceptor outer segment GO:0001750 9.17 ABCA4 GNAT2 PROM1 PRPH2 RHO RPGR

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.86 ABCA4 AIPL1 CNNM4 CRX GNAT2 GUCA1A
2 retinoid metabolic process GO:0001523 9.65 ABCA4 RHO RPE65
3 retina homeostasis GO:0001895 9.63 AIPL1 RPE65 TULP1
4 photoreceptor cell maintenance GO:0045494 9.62 ABCA4 PROM1 RHO TULP1
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.61 GUCA1A GUCY2D RHO
6 detection of light stimulus involved in visual perception GO:0050908 9.58 GNAT2 RPE65 TULP1
7 phototransduction GO:0007602 9.56 GNAT2 GUCA1A RHO UNC119
8 retina development in camera-type eye GO:0060041 9.55 PRPH2 RHO RPE65 RPGRIP1 TULP1
9 phototransduction, visible light GO:0007603 9.54 ABCA4 AIPL1 RHO
10 response to light stimulus GO:0009416 9.52 RHO RPE65
11 eye photoreceptor cell development GO:0042462 9.51 RPGRIP1 TULP1
12 response to stimulus GO:0050896 9.5 ABCA4 AIPL1 CNNM4 CRX GNAT2 GUCA1A
13 retina morphogenesis in camera-type eye GO:0060042 9.49 PROM1 RPE65

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled photoreceptor activity GO:0008020 8.62 GNAT2 RHO
Sources

Sources for Cone-Rod Dystrophy 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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