CORD2
MCID: CNR004
MIFTS: 63

Cone-Rod Dystrophy 2 (CORD2)

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

Aliases & Classifications for Cone-Rod Dystrophy 2

MalaCards integrated aliases for Cone-Rod Dystrophy 2:

Name: Cone-Rod Dystrophy 2 58 12 54 76 30 6 15 39 74
Cone-Rod Dystrophy 58 39 12 77 54 26 30 13 56 6 15
Cord2 58 12 54 76
Cone-Rod Retinal Dystrophy 2 12 54 76
Cone-Rod Retinal Dystrophy 58 12 26
Rcrd2 58 12 54
Crd2 12 54 76
Cone-Rod Retinal Dystrophy-2 58 13
Retinal Cone-Rod Dystrophy 2 12 54
Retinal Cone-Rod Dystrophy 58 26
Cord 58 26
Crd 58 26
Cone-Rod Retinal Dystrophy; Crd; Crd2 58
Retinal Cone-Rod Dystrophy; Rcrd2 58
Progressive Cone-Rod Dystrophy 74
Dystrophy, Cone-Rod, Type 2 41
Tapetoretinal Degeneration 26
Cone-Rod Dystrophy; Cord 58
Retinitis Pigmentosa 2 74
Cone-Rod Degeneration 26
Retinitis Pigmentosa 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (19q13.1-q13.2)


HPO:

33
cone-rod dystrophy 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 2

NIH Rare Diseases : 54 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 cone-rod dystrophy 7 and cone-rod dystrophy 9. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. The drugs Antioxidants and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are blindness and nyctalopia

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

Genetics Home Reference : 26 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.

OMIM : 58 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 : 76 Cone-rod dystrophy 2: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Wikipedia : 77 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Related Diseases for Cone-Rod Dystrophy 2

Diseases in the Cone-Rod Dystrophy 6 family:

Cone-Rod Dystrophy 2 Cone-Rod Dystrophy 1
Cone-Rod Dystrophy 5 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

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

(show top 50) (show all 2205)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 7 35.1 ABCA4 RIMS1
2 cone-rod dystrophy 9 35.1 RPGRIP1 GUCY2D CRX ABCA4
3 cone-rod dystrophy 6 34.9 RPGR GUCY2D GUCA1A
4 cone-rod dystrophy 1 34.9 CORD1 RPGRIP1
5 cone-rod dystrophy 12 34.9 CERKL PROM1
6 cone-rod dystrophy 8 34.8 RPGRIP1 GUCY2D CRX CORD8 ABCA4
7 leber congenital amaurosis 4 34.0 GUCY2D CRX AIPL1
8 retinitis pigmentosa 3 33.3 RPGRIP1 RPGR ABCA4
9 retinitis pigmentosa 32.8 UNC119 TULP1 RPGRIP1 RPGR RIMS1 RHO
10 leber congenital amaurosis 1 32.7 TULP1 GUCY2D GUCA1A
11 retinitis 31.7 RPGRIP1 RPGR RHO PRPH2 FAM161A CERKL
12 stargardt disease 31.4 RPGR RHO PRPH2 PROM1 ABCA4
13 fundus dystrophy 31.1 TULP1 RPGRIP1 RPGR RIMS1 RHO PRPH2
14 retinitis pigmentosa 1 31.0 PRPH2 RHO
15 cone dystrophy 30.9 RPGR RHO GUCA1A
16 stargardt macular degeneration 30.9 RIMS1 RHO PRPH2 ABCA4
17 stargardt disease 1 30.9 RHO CRX ABCA4
18 leber congenital amaurosis 30.9 TULP1 RPGRIP1 RPGR RIMS1 RHO PRPH2
19 retinal degeneration 30.7 TULP1 RPGRIP1 RPGR RHO PRPH2 NR2E3
20 retinal disease 29.3 TULP1 RPGRIP1 RPGR RHO PRPH2 GUCY2D
21 spondylometaphyseal dysplasia with cone-rod dystrophy 12.9
22 cone-rod dystrophy and hearing loss 1 12.9
23 cone-rod dystrophy 3 12.9
24 cone-rod dystrophy, x-linked, 1 12.8
25 cone-rod dystrophy, x-linked, 3 12.8
26 cone-rod dystrophy 5 12.8
27 cone-rod dystrophy 18 12.8
28 cone-rod dystrophy 10 12.8
29 cone-rod dystrophy 19 12.8
30 cone-rod dystrophy 20 12.8
31 cone-rod dystrophy 13 12.8
32 cone-rod dystrophy 11 12.8
33 cone-rod dystrophy 15 12.8
34 cone-rod dystrophy 21 12.7
35 cone-rod dystrophy 17 12.7
36 cone-rod dystrophy and hearing loss 2 12.7
37 spinal cord injury 12.6
38 spinal cord disease 12.5
39 leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation 12.5
40 cerebellar hypoplasia tapetoretinal degeneration 12.5
41 jalili syndrome 12.5
42 tethered spinal cord syndrome 12.4
43 sex cord-gonadal stromal tumor 12.4
44 hypomyelination with brainstem and spinal cord involvement and leg spasticity 12.4
45 tethered cord syndrome 12.3
46 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration 12.3
47 distal myopathy with vocal cord weakness 12.3
48 spinal cord ependymoma 12.3
49 spinal cord glioma 12.3
50 split spinal cord malformation 12.3

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



Diseases related to Cone-Rod Dystrophy 2

Symptoms & Phenotypes for Cone-Rod Dystrophy 2

Human phenotypes related to Cone-Rod Dystrophy 2:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 nyctalopia 33 HP:0000662
3 abnormality of color vision 33 HP:0000551
4 cone/cone-rod dystrophy 33 HP:0000548
5 chorioretinal atrophy 33 HP:0000533
6 peripheral visual field loss 33 HP:0007994

Symptoms via clinical synopsis from OMIM:

58
Eyes:
chorioretinal atrophy
peripheral visual field loss
cone-rod retinal dystrophy
initial color vision and visual acuity loss
night blindness
more

Clinical features from OMIM:

120970

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 AIPL1 CRX FAM161A GUCA1A GUCY2D
2 cardiovascular system MP:0005385 9.91 ABCA4 CRX FAM161A PROM1 PRPH2 RHO
3 pigmentation MP:0001186 9.56 ABCA4 CRX PROM1 PRPH2 RHO RPGR
4 vision/eye MP:0005391 9.53 ABCA4 AIPL1 CERKL CRX FAM161A GUCA1A

Drugs & Therapeutics for Cone-Rod Dystrophy 2

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antioxidants Phase 2
2 Anesthetics Phase 2
3 Protective Agents Phase 2
4 Pharmaceutical Solutions Phase 1, Phase 2
5 Mitogens Phase 1, Phase 2
6 Ophthalmic Solutions Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8 Interferon-gamma Phase 1, Phase 2
9 interferons Phase 1, Phase 2
10 Antiviral Agents Phase 1, Phase 2
11
Prednisone Approved, Vet_approved 53-03-2 5865

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
2 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
3 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
4 IRIS PILOT - Extended Pilot Study With a Retinal Implant System Unknown status NCT00427180 Not Applicable
5 Clinical & Community Approaches to Weight Management Active, not recruiting NCT03012126 Not Applicable
6 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Active, not recruiting NCT02670980 Not Applicable
7 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy Completed NCT01864486 Not Applicable
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 Electrophysiologic HV-interval as a Predicor for Permanent Pacemaker Implantation After TAVI Completed NCT01801098
10 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Recruiting NCT03561922 Not Applicable
11 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
12 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
13 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242

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

Genetic Tests for Cone-Rod Dystrophy 2

Genetic tests related to Cone-Rod Dystrophy 2:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 30 PRPH2
2 Cone-Rod Dystrophy 2 30

Anatomical Context for Cone-Rod Dystrophy 2

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

42
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 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

Publications for Cone-Rod Dystrophy 2

Articles related to Cone-Rod Dystrophy 2:

(show top 50) (show all 209)
# Title Authors Year
1
Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation. ( 30710256 )
2019
2
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. ( 30913292 )
2019
3
<i>GUCY2D</i> Cone-Rod Dystrophy-6 is a 'Phototransduction Disease' Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. ( 29440533 )
2018
4
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients with Cone-Rod Dystrophy and Amelogenesis Imperfecta. ( 29421294 )
2018
5
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR). ( 30578485 )
2018
6
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. ( 29718797 )
2018
7
Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging. ( 29074494 )
2018
8
NMNAT1 variants cause cone and cone-rod dystrophy. ( 29184169 )
2018
9
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. ( 29193673 )
2018
10
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. ( 29555955 )
2018
11
Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients. ( 29671671 )
2018
12
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. ( 29769798 )
2018
13
Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant. ( 30078014 )
2018
14
A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report. ( 30095615 )
2018
15
Author Correction: Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. ( 30139995 )
2018
16
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. ( 30184081 )
2018
17
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. ( 28812650 )
2017
18
Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy. ( 28378834 )
2017
19
A novel likely pathogenic variant in the RAB28 gene in a Korean patient with cone-rod dystrophy. ( 28388261 )
2017
20
Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. ( 28993665 )
2017
21
DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1. ( 29200130 )
2017
22
Stem Cell-Derived Photoreceptor Transplants Differentially Integrate Into Mouse Models of Cone-Rod Dystrophy. ( 27367586 )
2016
23
Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy. ( 26427426 )
2016
24
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. ( 27176872 )
2016
25
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. ( 26865426 )
2016
26
Mizuo-Nakamura phenomenon in cone-rod dystrophy. ( 27813202 )
2016
27
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. ( 26992781 )
2016
28
Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. ( 26780318 )
2016
29
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. ( 27588451 )
2016
30
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. ( 27548899 )
2016
31
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. ( 26854980 )
2016
32
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. ( 26153215 )
2015
33
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel. ( 25515582 )
2015
34
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. ( 26010121 )
2015
35
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
36
A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree. ( 26682157 )
2015
37
Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy. ( 25873014 )
2015
38
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. ( 26103963 )
2015
39
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. ( 26702251 )
2015
40
Pediatric Cone-rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations. ( 24547909 )
2014
41
Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. ( 24387991 )
2014
42
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. ( 25091951 )
2014
43
Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis. ( 24771178 )
2014
44
Novel Recessive Cone-Rod Dystrophy Caused by POC1B Mutation. ( 24945461 )
2014
45
Novel mutations in PCYT1A are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy. ( 24476460 )
2014
46
Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model. ( 25274777 )
2014
47
Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy. ( 25546566 )
2014
48
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. ( 25018096 )
2014
49
New Mutations in the RAB28 Gene in 2 Spanish Families With Cone-Rod Dystrophy. ( 25356532 )
2014
50
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy. ( 24387990 )
2014

Variations for Cone-Rod Dystrophy 2

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

76
# 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 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROM1 NM_006017.2(PROM1): c.2077-521A> G single nucleotide variant Pathogenic rs796051882 GRCh37 Chromosome 4, 15989860: 15989860
2 PROM1 NM_006017.2(PROM1): c.2077-521A> G single nucleotide variant Pathogenic rs796051882 GRCh38 Chromosome 4, 15988237: 15988237
3 FAM161A NM_032180.2(FAM161A): c.1309A> T (p.Arg437Ter) single nucleotide variant Pathogenic rs200691042 GRCh37 Chromosome 2, 62066830: 62066830
4 FAM161A NM_032180.2(FAM161A): c.1309A> T (p.Arg437Ter) single nucleotide variant Pathogenic rs200691042 GRCh38 Chromosome 2, 61839695: 61839695
5 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh37 Chromosome 17, 26879407: 26879407
6 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh38 Chromosome 17, 28552389: 28552389
7 CRX NM_000554.5(CRX): c.239A> C (p.Glu80Ala) single nucleotide variant Pathogenic rs104894671 GRCh37 Chromosome 19, 48339638: 48339638
8 CRX NM_000554.5(CRX): c.239A> C (p.Glu80Ala) single nucleotide variant Pathogenic rs104894671 GRCh38 Chromosome 19, 47836381: 47836381
9 CRX NM_000554.6(CRX): c.502del (p.Glu168Serfs) deletion Pathogenic GRCh37 Chromosome 19, 48342826: 48342826
10 CRX NM_000554.6(CRX): c.502del (p.Glu168Serfs) deletion Pathogenic GRCh38 Chromosome 19, 47839569: 47839569
11 CRX NM_000554.5(CRX): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs104894672 GRCh37 Chromosome 19, 48339520: 48339520
12 CRX NM_000554.5(CRX): c.121C> T (p.Arg41Trp) single nucleotide variant Pathogenic rs104894672 GRCh38 Chromosome 19, 47836263: 47836263
13 CRX NM_000554.5(CRX): c.122G> A (p.Arg41Gln) single nucleotide variant Likely pathogenic rs61748436 GRCh37 Chromosome 19, 48339521: 48339521
14 CRX NM_000554.5(CRX): c.122G> A (p.Arg41Gln) single nucleotide variant Likely pathogenic rs61748436 GRCh38 Chromosome 19, 47836264: 47836264
15 CRX CRX, 3-BP DEL/2-BP INS, NT816 indel Pathogenic
16 USH2A NM_206933.2(USH2A): c.10613G> A (p.Arg3538Gln) single nucleotide variant Uncertain significance rs774844491 GRCh37 Chromosome 1, 215955511: 215955511
17 USH2A NM_206933.2(USH2A): c.10613G> A (p.Arg3538Gln) single nucleotide variant Uncertain significance rs774844491 GRCh38 Chromosome 1, 215782169: 215782169
18 USH2A NM_206933.2(USH2A): c.8842C> T (p.Pro2948Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 215867010: 215867010
19 USH2A NM_206933.2(USH2A): c.8842C> T (p.Pro2948Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 216040352: 216040352
20 RPE65 NM_000329.2(RPE65): c.433G> C (p.Ala145Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 68444593: 68444593
21 RPE65 NM_000329.2(RPE65): c.433G> C (p.Ala145Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 68910276: 68910276
22 ACBD5 NM_145698.4(ACBD5): c.1446del (p.Thr483Profs) deletion Uncertain significance GRCh38 Chromosome 10, 27205207: 27205207
23 ACBD5 NM_145698.4(ACBD5): c.1446del (p.Thr483Profs) deletion Uncertain significance GRCh37 Chromosome 10, 27494136: 27494136
24 ACBD5 NM_145698.4(ACBD5): c.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 27223421: 27223421
25 ACBD5 NM_145698.4(ACBD5): c.407T> C (p.Val136Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 27512350: 27512350
26 NR2E3 NM_014249.3(NR2E3): c.724_725del (p.Ser242Glnfs) deletion Pathogenic GRCh38 Chromosome 15, 71812488: 71812489
27 NR2E3 NM_014249.3(NR2E3): c.724_725del (p.Ser242Glnfs) deletion Pathogenic GRCh37 Chromosome 15, 72104828: 72104829
28 PANK2 NM_153638.3(PANK2): c.1317del (p.Arg440Valfs) deletion Pathogenic GRCh38 Chromosome 20, 3912539: 3912539
29 PANK2 NM_153638.3(PANK2): c.1317del (p.Arg440Valfs) deletion Pathogenic GRCh37 Chromosome 20, 3893186: 3893186
30 PANK2 NM_153638.2(PANK2): c.(?_-6)_(1662+1_1663-1)del deletion Pathogenic GRCh38 Chromosome 20, 3889095: 3923243
31 PANK2 NM_153638.2(PANK2): c.(?_-6)_(1662+1_1663-1)del deletion Pathogenic GRCh37 Chromosome 20, 3869742: 3903890
32 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh37 Chromosome 15, 72103821: 72103821
33 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh38 Chromosome 15, 71811481: 71811481
34 CRX NM_000554.5(CRX): c.615delC (p.Ser206Profs) deletion Pathogenic rs281865516 GRCh38 Chromosome 19, 47839682: 47839682
35 CRX NM_000554.5(CRX): c.615delC (p.Ser206Profs) deletion Pathogenic rs281865516 GRCh37 Chromosome 19, 48342939: 48342939
36 CRX NM_000554.5(CRX): c.472G> A (p.Ala158Thr) single nucleotide variant Benign/Likely benign rs61748445 GRCh38 Chromosome 19, 47839539: 47839539
37 CRX NM_000554.5(CRX): c.472G> A (p.Ala158Thr) single nucleotide variant Benign/Likely benign rs61748445 GRCh37 Chromosome 19, 48342796: 48342796
38 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh38 Chromosome 2, 181558617: 181558617
39 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh37 Chromosome 2, 182423344: 182423344

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

7
# 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 2

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

Pathways for Cone-Rod Dystrophy 2

GO Terms for Cone-Rod Dystrophy 2

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 FAM161A PROM1 RHO RPGR RPGRIP1 TULP1
2 cilium GO:0005929 9.65 FAM161A PROM1 RPGR RPGRIP1 TULP1
3 photoreceptor disc membrane GO:0097381 9.46 ABCA4 GUCA1A GUCY2D RHO
4 photoreceptor inner segment GO:0001917 9.43 AIPL1 CERKL FAM161A GUCA1A RHO TULP1
5 photoreceptor outer segment membrane GO:0042622 9.32 PROM1 RHO
6 photoreceptor outer segment GO:0001750 9.17 ABCA4 CERKL PROM1 PRPH2 RHO RPGR

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.8 ABCA4 AIPL1 CRX FAM161A GUCA1A GUCY2D
2 photoreceptor cell maintenance GO:0045494 9.67 ABCA4 PROM1 RHO TULP1
3 phototransduction GO:0007602 9.62 GUCA1A NR2E3 RHO UNC119
4 eye photoreceptor cell development GO:0042462 9.61 NR2E3 RPGRIP1 TULP1
5 phototransduction, visible light GO:0007603 9.58 ABCA4 AIPL1 RHO
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.56 AIPL1 GUCA1A GUCY2D RHO
7 retina development in camera-type eye GO:0060041 9.55 NR2E3 PRPH2 RHO RPGRIP1 TULP1
8 response to stimulus GO:0050896 9.44 ABCA4 AIPL1 CRX FAM161A GUCA1A GUCY2D

Sources for Cone-Rod Dystrophy 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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