CORD6
MCID: CNR007
MIFTS: 53

Cone-Rod Dystrophy 6 (CORD6)

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

Aliases & Classifications for Cone-Rod Dystrophy 6

MalaCards integrated aliases for Cone-Rod Dystrophy 6:

Name: Cone-Rod Dystrophy 6 57 12 20 72 29 6 15
Retinal Cone Dystrophy 2 57 12 20 70
Cord6 57 12 72 54
Progressive Cone Degeneration 20 6 70
Progressive Cone Dystrophy 58 54 6
Rcd2 57 12 20
Cone Dystrophy 58 70
Retinal Cone Dystrophy 2; Rcd2 57
Dystrophy, Cone-Rod, Type 6 39
Cone Dystrophy Progressive 20
Retinitis Pigmentosa 6 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
age-dependent penetrance
onset in the first to sixth decade of life
progressive deterioration of central vision
intrafamilial variability in severity

Inheritance:
autosomal dominant
autosomal recessive (in 1 family)


HPO:

31

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111011
OMIM® 57 601777
OMIM Phenotypic Series 57 PS120970
MeSH 44 D058499
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C0271092
Orphanet 58 ORPHA1871
MedGen 41 C1866293
UMLS 70 C0730290 C1839368 C1866293 more

Summaries for Cone-Rod Dystrophy 6

UniProtKB/Swiss-Prot : 72 Cone-rod dystrophy 6: 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.

MalaCards based summary : Cone-Rod Dystrophy 6, also known as retinal cone dystrophy 2, is related to cone dystrophy 3 and cone dystrophy 4. An important gene associated with Cone-Rod Dystrophy 6 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Sweet Taste Signaling and Metabolism of fat-soluble vitamins. The drugs Anti-Infective Agents and interferons have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related phenotypes are visual impairment and abnormality of retinal pigmentation

Disease Ontology : 12 A cone-rod dystrophy that has material basis in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.

More information from OMIM: 601777 PS120970

Related Diseases for Cone-Rod Dystrophy 6

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 3 33.3 KCNV2 GUCA1A CACNA2D4
2 cone dystrophy 4 33.1 PDE6C CACNA2D4
3 newfoundland rod-cone dystrophy 33.0 RDH5 PRPH2
4 blue cone monochromacy 32.9 PDE6C GNAT2 CNGB3 CNGA3
5 vitreoretinochoroidopathy 32.9 PRPH2 BEST1 ABCA4
6 cone-rod dystrophy, x-linked, 2 32.8 RPGR CACNA1F
7 cone-rod dystrophy, x-linked, 1 32.6 RPGR CACNA1F
8 oguchi disease 32.1 RDH5 PDE6B CACNA1F
9 leber congenital amaurosis 4 32.1 RD3 PDE6C GUCY2D
10 bardet-biedl syndrome 31.9 RPGR PRPH2 PCDH15 MKKS GUCY2D ARL3
11 night blindness 31.2 RPGR RDH5 PRPH2 PDE6B KCNV2 GUCY2D
12 fundus albipunctatus 30.9 RPGR RDH5 PRPH2 PDE6B GUCY2D CACNA1F
13 scotoma 30.9 RPGR KCNV2 GUCY2D GUCA1A CNGB3 CNGA3
14 retinitis 30.8 RPGR PRPH2 PDE6B ABCA4
15 cone-rod dystrophy, x-linked, 3 30.7 RPGR CACNA2D4 CACNA1F
16 yemenite deaf-blind hypopigmentation syndrome 30.6 GUCY2D ABCA4
17 color blindness 30.5 RPGR PDE6C PDE6B GUCY2D GNAT2 CNGB3
18 achromatopsia 30.5 RPGR RD3 PRPH2 PDE6C PDE6B KCNV2
19 macular degeneration, age-related, 1 30.5 RPGR RDH5 PRPH2 PDE6B GUCY2D GNAT2
20 night blindness, congenital stationary, type 2a 30.4 PDE6B GNAT2 CACNA1F
21 joubert syndrome 1 30.4 RPGR RD3 PDE6C GUCY2D CNGB3 ARL3
22 gyrate atrophy of choroid and retina 30.4 RPGR PRPH2 BEST1 ABCA4
23 tritanopia 30.4 PDE6C GNAT2 CNGB3 CNGA3
24 leber congenital amaurosis 2 30.4 RPGR RD3 GUCY2D CNGB3
25 myopia 30.4 RPGR RDH5 PDE6B CNGB3 CACNA1F
26 usher syndrome 30.3 RPGR PRPH2 PDE6B PCDH15 GUCY2D GUCA1A
27 retinal degeneration 30.3 RPGR RDH5 RD3 PRPH2 PDE6B MKKS
28 achromatopsia 3 30.3 PDE6C GUCY2D GNAT2 CNGB3 CNGA3 CACNA1F
29 retinal disease 30.3 RPGR RDH5 PRPH2 PDE6B PCDH15 MKKS
30 usher syndrome type 2 30.3 RPGR PRPH2 PDE6B PCDH15 GUCY2D ABCA4
31 pathologic nystagmus 30.3 RPGR PDE6C KCNV2 GUCY2D GNAT2 CNGB3
32 choroideremia 30.2 RPGR PRPH2 GUCY2D CNGB3 CNGA3 BEST1
33 retinoschisis 1, x-linked, juvenile 30.2 RPGR GUCY2D GNAT2 CNGB3 CNGA3 CACNA1F
34 congenital stationary night blindness 30.1 RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
35 eye disease 30.1 RPGR PRPH2 PDE6B LGALS4 GUCY2D GNAT2
36 cone-rod dystrophy 2 30.1 RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
37 stargardt disease 29.9 RPGR RDH5 PRPH2 PDE6B KCNV2 GUCY2D
38 cone dystrophy 29.7 RPGR RDH5 PRPH2 PDE6C PDE6B PCDH15
39 leber plus disease 29.7 RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
40 retinitis pigmentosa 29.7 RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
41 fundus dystrophy 29.6 RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
42 retinal cone dystrophy 3b 11.8
43 retinal cone dystrophy 3a 11.7
44 retinal cone dystrophy 4 11.6
45 microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 11.5
46 oculoauricular syndrome 11.4
47 cone dystrophy, x-linked, with tapetal-like sheen 11.3
48 peripheral cone dystrophy 11.2
49 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.1
50 syndromic rod-cone dystrophy 11.1

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 6:



Diseases related to Cone-Rod Dystrophy 6

Symptoms & Phenotypes for Cone-Rod Dystrophy 6

Human phenotypes related to Cone-Rod Dystrophy 6:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
4 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
5 color vision defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0000551
6 nystagmus 31 HP:0000639
7 reduced visual acuity 31 HP:0007663
8 progressive night blindness 31 HP:0007675
9 cone/cone-rod dystrophy 31 HP:0000548
10 peripheral visual field loss 31 HP:0007994
11 macular atrophy 31 HP:0007401
12 hemeralopia 31 HP:0012047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
photophobia
hemeralopia
glare
decreased central vision
more

Clinical features from OMIM®:

601777 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.77 GUCY2D
2 Decreased viability GR00055-A-2 9.77 GUCY2D
3 Decreased viability GR00221-A-1 9.77 GUCY2D
4 Decreased viability GR00221-A-2 9.77 GUCY2D
5 Decreased viability GR00221-A-3 9.77 GUCY2D
6 Decreased viability GR00221-A-4 9.77 GUCY2D
7 Decreased viability GR00240-S-1 9.77 GUCY2D RDH5
8 Decreased viability GR00249-S 9.77 GUCY2D KCNV2 LGALS4 PCDH15 PDE6B PRPH2
9 Decreased viability GR00381-A-1 9.77 CACNA2D4 GUCA1A RDH5
10 Decreased viability GR00386-A-1 9.77 GNAT2 GUCA1A GUCY2D KCNV2 LGALS4 PRPH2
11 Decreased viability GR00402-S-2 9.77 BEST1 GUCY2D KCNV2 PRPH2

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ABCA4 ARL3 CACNA1F CNGA3 CNGB3 GNAT2
2 vision/eye MP:0005391 9.6 ABCA4 ARL3 BEST1 CACNA1F CACNA2D4 CNGA3
3 pigmentation MP:0001186 9.35 ABCA4 BEST1 PDE6B PRPH2 RPGR

Drugs & Therapeutics for Cone-Rod Dystrophy 6

Drugs for Cone-Rod Dystrophy 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 1, Phase 2
2 interferons Phase 1, Phase 2
3 Interferon-gamma Phase 1, Phase 2
4 Antiviral Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Phase I/II Study of the Evaluation of 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
2 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
3 Phenotype Correlates Genotype of Inherited Retina Dystrophies Recruiting NCT03990727
4 Functional Study of Intronic Variants in Inherited Cone Disorders Not yet recruiting NCT04658251

Search NIH Clinical Center for Cone-Rod Dystrophy 6

Genetic Tests for Cone-Rod Dystrophy 6

Genetic tests related to Cone-Rod Dystrophy 6:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 6 29 GUCY2D

Anatomical Context for Cone-Rod Dystrophy 6

MalaCards organs/tissues related to Cone-Rod Dystrophy 6:

40
Eye, Retina, Liver, Skin

Publications for Cone-Rod Dystrophy 6

Articles related to Cone-Rod Dystrophy 6:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. 6 61 57 54
10647719 2000
2
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 61 57 6
12552567 2003
3
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 6 61 57
9618177 1998
4
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. 6 57 61
9097965 1997
5
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. 57 6
20517349 2010
6
Clinical study of a large family with autosomal dominant progressive cone degeneration. 57 6
8554074 1996
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. 54 6 61
11115851 2000
8
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
9
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6
30718709 2019
10
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. 6
29068479 2018
11
The genetic profile of Leber congenital amaurosis in an Australian cohort. 6
29178642 2017
12
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
13
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. 6
26626312 2016
14
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. 6
26355662 2016
15
GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. 6
26298565 2015
16
Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast. 6
26253563 2015
17
Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. 6
25477517 2015
18
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. 6
24997176 2014
19
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? 6
24875811 2014
20
Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. 6
23035049 2013
21
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. 6
21602930 2011
22
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. 6
20683928 2010
23
Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations. 6
20050595 2010
24
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. 6
17964524 2007
25
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 6
17724218 2007
26
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. 6
16505055 2006
27
Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. 6
15175914 2004
28
Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. 57
11709018 2001
29
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). 6
11328726 2001
30
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 6
10951519 2000
31
Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? 6
10676808 2000
32
A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. 6
10636733 1999
33
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. 57
9683616 1998
34
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. 6
8944027 1996
35
Mapping of autosomal dominant cone degeneration to chromosome 17p. 57
8554076 1996
36
Retinal diseases linked with photoreceptor guanylate cyclase. 54 61
11952088 2002
37
Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling. 54 61
10529237 1999
38
GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. 61
33109612 2020
39
GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness. 61
33453835 2020
40
Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. 61
31470097 2020
41
Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque. 61
30358434 2019
42
CO2/bicarbonate modulates cone photoreceptor ROS-GC1 and restores its CORD6-linked catalytic activity. 61
29427171 2018
43
GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. 61
29440533 2018
44
The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice. 61
27703005 2016
45
Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology. 61
23328348 2013
46
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. 61
22695961 2012
47
Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6. 61
21218126 2011
48
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. 54
20079539 2010
49
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. 54
12906118 2003
50
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). 54
12205108 2002

Variations for Cone-Rod Dystrophy 6

ClinVar genetic disease variations for Cone-Rod Dystrophy 6:

6 (show top 50) (show all 275)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARL3 NM_004311.4(ARL3):c.296G>T (p.Arg99Ile) SNV Pathogenic 617788 rs1590122229 GRCh37: 10:104449669-104449669
GRCh38: 10:102689912-102689912
2 CACNA1F NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys) SNV Pathogenic 438126 rs1557106557 GRCh37: X:49069216-49069216
GRCh38: X:49212756-49212756
3 GUCY2D NM_000180.4(GUCY2D):c.2846T>C (p.Ile949Thr) SNV Pathogenic 9359 rs267606857 GRCh37: 17:7918722-7918722
GRCh38: 17:8015404-8015404
4 GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 GRCh37: 17:7917236-7917236
GRCh38: 17:8013918-8013918
5 GUCY2D NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) SNV Pathogenic 497765 rs1555635778 GRCh37: 17:7918069-7918069
GRCh38: 17:8014751-8014751
6 GUCY2D NM_000180.4(GUCY2D):c.3224+1G>C SNV Pathogenic 581095 rs757823463 GRCh37: 17:7919609-7919609
GRCh38: 17:8016291-8016291
7 GUCY2D NC_000017.11:g.(?_8002902)_(8016550_?)del Deletion Pathogenic 584235 GRCh37: 17:7906220-7919868
GRCh38: 17:8002902-8016550
8 GUCY2D NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) SNV Pathogenic 587413 rs1006935198 GRCh37: 17:7918366-7918366
GRCh38: 17:8015048-8015048
9 GUCY2D NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) Deletion Pathogenic 98602 rs61749670 GRCh37: 17:7906752-7906752
GRCh38: 17:8003434-8003434
10 GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) SNV Pathogenic 98563 rs61750168 GRCh37: 17:7917236-7917236
GRCh38: 17:8013918-8013918
11 GUCY2D NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) SNV Pathogenic 638494 rs748798324 GRCh37: 17:7910841-7910841
GRCh38: 17:8007523-8007523
12 GUCY2D NM_000180.4(GUCY2D):c.914del (p.His305fs) Deletion Pathogenic 642720 rs1598144694 GRCh37: 17:7907362-7907362
GRCh38: 17:8004044-8004044
13 GUCY2D NM_000180.4(GUCY2D):c.1245del (p.Phe415fs) Deletion Pathogenic 803313 rs1598146173 GRCh37: 17:7909895-7909895
GRCh38: 17:8006577-8006577
14 GUCY2D NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) SNV Pathogenic 98540 rs61749679 GRCh37: 17:7909997-7909997
GRCh38: 17:8006679-8006679
15 GUCY2D NM_000180.4(GUCY2D):c.1957-2A>G SNV Pathogenic 803315 rs945734402 GRCh37: 17:7915766-7915766
GRCh38: 17:8012448-8012448
16 GUCY2D NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter) SNV Pathogenic 497765 rs1555635778 GRCh37: 17:7918069-7918069
GRCh38: 17:8014751-8014751
17 GUCY2D NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn) SNV Pathogenic 471238 rs201587670 GRCh37: 17:7918198-7918198
GRCh38: 17:8014880-8014880
18 GUCY2D NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter) SNV Pathogenic 98540 rs61749679 GRCh37: 17:7909997-7909997
GRCh38: 17:8006679-8006679
19 GUCY2D NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter) SNV Pathogenic 851765 GRCh37: 17:7919104-7919104
GRCh38: 17:8015786-8015786
20 GUCY2D NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter) SNV Pathogenic 864510 GRCh37: 17:7919266-7919266
GRCh38: 17:8015948-8015948
21 GUCY2D NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter) SNV Pathogenic 98554 rs61750161 GRCh37: 17:7915789-7915789
GRCh38: 17:8012471-8012471
22 GUCY2D NM_000180.4(GUCY2D):c.2945-2A>C SNV Pathogenic 915393 GRCh37: 17:7919059-7919059
GRCh38: 17:8015741-8015741
23 GUCY2D NM_000180.4(GUCY2D):c.2516del (p.Thr839fs) Deletion Pathogenic 938393 GRCh37: 17:7918022-7918022
GRCh38: 17:8014704-8014704
24 GUCY2D NM_000180.4(GUCY2D):c.2595del (p.Lys866fs) Deletion Pathogenic 861651 GRCh37: 17:7918195-7918195
GRCh38: 17:8014877-8014877
25 GUCY2D NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter) SNV Pathogenic 861650 GRCh37: 17:7911255-7911255
GRCh38: 17:8007937-8007937
26 GUCY2D NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter) SNV Pathogenic 961067 GRCh37: 17:7906430-7906430
GRCh38: 17:8003112-8003112
27 GUCY2D NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter) SNV Pathogenic 961926 GRCh37: 17:7911264-7911264
GRCh38: 17:8007946-8007946
28 GUCY2D NM_000180.4(GUCY2D):c.3028G>T (p.Glu1010Ter) SNV Pathogenic 1031451 GRCh37: 17:7919144-7919144
GRCh38: 17:8015826-8015826
29 KCNV2 NM_133497.4(KCNV2):c.357dup (p.Lys120fs) Duplication Pathogenic 636178 rs1402837406 GRCh37: 9:2718092-2718093
GRCh38: 9:2718092-2718093
30 ABCA4 NM_000350.3(ABCA4):c.885del (p.Leu296fs) Deletion Pathogenic 438109 rs764759172 GRCh37: 1:94546248-94546248
GRCh38: 1:94080692-94080692
31 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) SNV Pathogenic 99428 rs61750641 GRCh37: 1:94471055-94471055
GRCh38: 1:94005499-94005499
32 GUCY2D NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs) Duplication Pathogenic 939554 GRCh37: 17:7917328-7917329
GRCh38: 17:8014010-8014011
33 GUCY2D NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) SNV Pathogenic 9357 rs61750173 GRCh37: 17:7918019-7918019
GRCh38: 17:8014701-8014701
34 GUCY2D NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs) Deletion Pathogenic 957347 GRCh37: 17:7907372-7907385
GRCh38: 17:8004054-8004067
35 GUCY2D NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) SNV Pathogenic 9355 rs61750172 GRCh37: 17:7918018-7918018
GRCh38: 17:8014700-8014700
36 GUCY2D NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp) SNV Pathogenic 453243 rs28933695 GRCh37: 17:7918017-7918017
GRCh38: 17:8014699-8014699
37 GUCY2D NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) SNV Pathogenic 9355 rs61750172 GRCh37: 17:7918018-7918018
GRCh38: 17:8014700-8014700
38 GUCY2D NM_000180.4(GUCY2D):c.2511G>C (p.Glu837Asp) SNV Pathogenic 453244 rs28933695 GRCh37: 17:7918017-7918017
GRCh38: 17:8014699-8014699
39 PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) SNV Pathogenic 13183 rs61755783 GRCh37: 6:42689649-42689649
GRCh38: 6:42721911-42721911
40 GUCY2D NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) SNV Pathogenic/Likely pathogenic 9357 rs61750173 GRCh37: 17:7918019-7918019
GRCh38: 17:8014701-8014701
41 GUCY2D NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) SNV Likely pathogenic 197118 rs138836357 GRCh37: 17:7909747-7909747
GRCh38: 17:8006429-8006429
42 GUCY2D NM_000180.4(GUCY2D):c.1972C>T (p.His658Tyr) SNV Likely pathogenic 803316 rs1598149154 GRCh37: 17:7915783-7915783
GRCh38: 17:8012465-8012465
43 GUCY2D NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys) SNV Likely pathogenic 98590 rs61749668 GRCh37: 17:7906672-7906672
GRCh38: 17:8003354-8003354
44 PCDH15 NM_033056.4(PCDH15):c.5845_5846CA[1] (p.His1949fs) Microsatellite Likely pathogenic 636185 rs781339303 GRCh37: 10:55581638-55581639
GRCh38: 10:53821878-53821879
45 PDE6B NM_000283.3(PDE6B):c.1670A>G (p.His557Arg) SNV Likely pathogenic 636186 rs536742386 GRCh37: 4:655978-655978
GRCh38: 4:662189-662189
46 GUCY2D NM_000180.4(GUCY2D):c.1957-2A>G SNV Likely pathogenic 803315 rs945734402 GRCh37: 17:7915766-7915766
GRCh38: 17:8012448-8012448
47 MKKS NM_018848.3(MKKS):c.1239_1242dup (p.Thr415Ter) Duplication Likely pathogenic 585164 rs1306231185 GRCh37: 20:10388293-10388294
GRCh38: 20:10407645-10407646
48 GUCY2D NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg) SNV Likely pathogenic 635421 rs61750174 GRCh37: 17:7918022-7918022
GRCh38: 17:8014704-8014704
49 CACNA2D4 NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) SNV Likely pathogenic 307853 rs76064926 GRCh37: 12:1965210-1965210
GRCh38: 12:1856044-1856044
50 USH2A NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) SNV Uncertain significance 48547 rs41303287 GRCh37: 1:216243517-216243517
GRCh38: 1:216070175-216070175

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 6:

72
# Symbol AA change Variation ID SNP ID
1 GUCY2D p.Glu837Asp VAR_003436 rs28933695
2 GUCY2D p.Arg838Cys VAR_003437 rs61750172
3 GUCY2D p.Arg838His VAR_015373 rs61750173
4 GUCY2D p.Arg838Gly VAR_071605
5 GUCY2D p.Arg838Pro VAR_071606
6 GUCY2D p.Thr849Ala VAR_071607
7 GUCY2D p.Ile949Thr VAR_071608 rs267606857
8 GUCY2D p.Glu841Lys VAR_082625
9 GUCY2D p.Lys846Asn VAR_082626
10 GUCY2D p.Pro873Arg VAR_082627 rs156796168

Expression for Cone-Rod Dystrophy 6

Search GEO for disease gene expression data for Cone-Rod Dystrophy 6.

Pathways for Cone-Rod Dystrophy 6

Pathways related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 KCNV2 GUCY2D CNGB3 CNGA3 CACNA2D4 CACNA1F
2
Show member pathways
11.88 RDH5 PDE6B GUCY2D GUCA1A ABCA4
3 11.47 RDH5 PDE6B GUCY2D GUCA1A GNAT2 CNGB3
4
Show member pathways
11.42 RDH5 PDE6C PDE6B GUCY2D GUCA1A GNAT2

GO Terms for Cone-Rod Dystrophy 6

Cellular components related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 RDH5 PRPH2 PDE6C PDE6B PCDH15 KCNV2
2 cell projection GO:0042995 9.91 RPGR RD3 PRPH2 GUCY2D GUCA1A GNAT2
3 photoreceptor inner segment GO:0001917 9.46 RD3 PRPH2 GUCA1A GNAT2
4 photoreceptor outer segment membrane GO:0042622 9.43 PDE6B GUCY2D GNAT2
5 photoreceptor outer segment GO:0001750 9.36 RPGR RD3 PRPH2 PDE6B PCDH15 GUCY2D
6 transmembrane transporter complex GO:1902495 9.32 CNGB3 CNGA3
7 photoreceptor disc membrane GO:0097381 9.26 PDE6B GUCY2D GUCA1A ABCA4

Biological processes related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 KCNV2 CNGB3 CNGA3 CACNA2D4 CACNA1F BEST1
2 response to stimulus GO:0050896 9.83 RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
3 retina development in camera-type eye GO:0060041 9.61 RD3 PRPH2 PDE6B
4 detection of light stimulus involved in visual perception GO:0050908 9.55 PRPH2 GNAT2 CACNA2D4 CACNA1F BEST1
5 photoreceptor cell maintenance GO:0045494 9.54 PCDH15 MKKS ABCA4
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.5 PDE6B GUCY2D GUCA1A
7 visual perception GO:0007601 9.5 RPGR RDH5 RD3 PRPH2 PDE6C PDE6B
8 sensory perception of light stimulus GO:0050953 9.48 PDE6C PCDH15
9 retinal cone cell development GO:0046549 9.46 PDE6C GNAT2
10 phototransduction, visible light GO:0007603 9.43 PDE6C PDE6B ABCA4

Molecular functions related to Cone-Rod Dystrophy 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.86 PDE6C MKKS GUCY2D GNAT2 CNGB3 CNGA3
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.32 PDE6C PDE6B
3 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB3 CNGA3
4 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB3 CNGA3
5 cGMP binding GO:0030553 8.8 PDE6C CNGB3 CNGA3

Sources for Cone-Rod Dystrophy 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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