CORD6
MCID: CNR007
MIFTS: 47

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 58 12 54 76 30 6 15
Retinal Cone Dystrophy 2 58 12 54 74
Cord6 58 12 76 56
Rcd2 58 12 54
Progressive Cone Degeneration 54 74
Progressive Cone Dystrophy 60 56
Cone Dystrophy 60 74
Retinal Cone Dystrophy 2; Rcd2 58
Dystrophy, Cone-Rod, Type 6 41
Cone Dystrophy Progressive 54
Retinitis Pigmentosa 6 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
autosomal recessive (in 1 family)

Miscellaneous:
age-dependent penetrance
onset in the first to sixth decade of life
progressive deterioration of central vision
intrafamilial variability in severity


HPO:

33

Classifications:

Orphanet: 60  
Rare eye diseases


Summaries for Cone-Rod Dystrophy 6

UniProtKB/Swiss-Prot : 76 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 blue cone monochromacy. An important gene associated with Cone-Rod Dystrophy 6 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. The drugs Vancomycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include eye 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.

Description from OMIM: 601777

Related Diseases for Cone-Rod Dystrophy 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 3 34.0 GUCA1A PDE6H
2 blue cone monochromacy 33.4 CNGA3 CNGB3
3 cone dystrophy 33.2 CNGB3 GUCA1A PDE6C PDE6H RPGR
4 cone-rod dystrophy 5 30.5 CNGB3 GUCY2D
5 cone-rod dystrophy 2 30.2 GNAT2 GUCA1A GUCY2D RPGR
6 pathologic nystagmus 30.1 CNGA3 CNGB3 GNAT2
7 yemenite deaf-blind hypopigmentation syndrome 30.0 GUCY2D RPGR
8 retinal degeneration 29.8 GUCA1A GUCY2D RD3 RPGR
9 retinitis pigmentosa 29.8 CNGA3 GUCA1A GUCY2D PDE6D PDE6G PRCD
10 achromatopsia 29.0 CNGA3 CNGB3 GNAT2 PDE6C PDE6H RPGR
11 color blindness 29.0 CNGA3 CNGB3 GNAT2 PDE6C PDE6H
12 fundus dystrophy 28.3 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
13 retinal cone dystrophy 3b 12.7
14 retinal cone dystrophy 3a 12.6
15 newfoundland rod-cone dystrophy 12.6
16 retinal cone dystrophy 4 12.6
17 cone dystrophy 4 12.5
18 cone dystrophy, x-linked, with tapetal-like sheen 12.3
19 peripheral cone dystrophy 12.3
20 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 12.1
21 vitreoretinochoroidopathy 11.8
22 oculoauricular syndrome 11.7
23 cone-rod dystrophy, x-linked, 1 11.7
24 cone-rod dystrophy, x-linked, 2 11.5
25 retinitis pigmentosa 38 11.4
26 retinitis pigmentosa 69 11.3
27 leber congenital amaurosis 4 11.0
28 bardet-biedl syndrome 12 11.0
29 retinal dystrophy and obesity 11.0
30 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.0
31 oguchi disease 11.0
32 eye degenerative disease 10.3 GUCA1A GUCY2D
33 choroidal dystrophy, central areolar, 1 10.3 GUCA1A GUCY2D
34 hereditary choroidal atrophy 10.3 GUCA1A GUCY2D
35 achromatopsia 2 10.2 CNGA3 CNGB3
36 partial central choroid dystrophy 10.2 GUCA1A GUCY2D
37 fundus albipunctatus 10.2
38 stargardt disease 1 10.2 CNGB3 GNAT2
39 tritanopia 10.2 CNGB3 GUCY2D
40 choroid disease 10.2 CNGB3 RPGR
41 retinal cone dystrophy 1 10.1
42 achromatopsia 4 10.1 CNGA3 CNGB3 GNAT2
43 leber congenital amaurosis 12 10.1 GUCY2D RD3
44 cataract 10.1
45 liver disease 10.1
46 retinitis pigmentosa 17 10.0 PDE6G PRCD
47 retinitis pigmentosa 44 10.0 CNGA3 CNGB3 RPGR
48 retinitis pigmentosa 1 10.0
49 keratoconus 10.0
50 myopia 10.0

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:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
3 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
4 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
5 color vision defect 33 hallmark (90%) HP:0000551
6 nystagmus 33 HP:0000639
7 reduced visual acuity 33 HP:0007663
8 abnormality of color vision 60 Very frequent (99-80%)
9 progressive night blindness 33 HP:0007675
10 cone/cone-rod dystrophy 33 HP:0000548
11 peripheral visual field loss 33 HP:0007994
12 hemeralopia 33 HP:0012047
13 macular atrophy 33 HP:0007401

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
photophobia
hemeralopia
glare
decreased central vision
more

Clinical features from OMIM:

601777

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
2 vision/eye MP:0005391 9.4 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C

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
Vancomycin Approved 1404-90-6 14969 441141
2 Anti-Bacterial Agents
3 Anti-Infective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Epidemiology of Infection With Vancomycin-Resistant Enterococci Completed NCT00018434

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 30 GUCY2D

Anatomical Context for Cone-Rod Dystrophy 6

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

42
Eye, Liver

Publications for Cone-Rod Dystrophy 6

Articles related to Cone-Rod Dystrophy 6:

(show all 11)
# Title Authors Year
1
GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. ( 29440533 )
2018
2
CO2/bicarbonate modulates cone photoreceptor ROS-GC1 and restores its CORD6-linked catalytic activity. ( 29427171 )
2018
3
Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6. ( 21218126 )
2011
4
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. ( 20517349 )
2010
5
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. ( 12552567 )
2003
6
Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? ( 10676808 )
2000
7
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. ( 10647719 )
2000
8
Spectrum of retGC1 mutations in Leber's congenital amaurosis. ( 10951519 )
2000
9
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. ( 9618177 )
1998
10
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. ( 9097965 )
1997
11
Clinical study of a large family with autosomal dominant progressive cone degeneration. ( 8554074 )
1996

Variations for Cone-Rod Dystrophy 6

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

76
# 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

ClinVar genetic disease variations for Cone-Rod Dystrophy 6:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 GUCY2D NM_000180.3(GUCY2D): c.2511G> C (p.Glu837Asp) single nucleotide variant not provided rs28933695 GRCh37 Chromosome 17, 7918017: 7918017
2 GUCY2D NM_000180.3(GUCY2D): c.2511G> C (p.Glu837Asp) single nucleotide variant not provided rs28933695 GRCh38 Chromosome 17, 8014699: 8014699
3 GUCY2D NM_000180.3(GUCY2D): c.2512C> T (p.Arg838Cys) single nucleotide variant Pathogenic rs61750172 GRCh37 Chromosome 17, 7918018: 7918018
4 GUCY2D NM_000180.3(GUCY2D): c.2512C> T (p.Arg838Cys) single nucleotide variant Pathogenic rs61750172 GRCh38 Chromosome 17, 8014700: 8014700
5 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh37 Chromosome 17, 7918019: 7918019
6 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh38 Chromosome 17, 8014701: 8014701
7 GUCY2D NM_000180.3(GUCY2D): c.2846T> C (p.Ile949Thr) single nucleotide variant Pathogenic rs267606857 GRCh37 Chromosome 17, 7918722: 7918722
8 GUCY2D NM_000180.3(GUCY2D): c.2846T> C (p.Ile949Thr) single nucleotide variant Pathogenic rs267606857 GRCh38 Chromosome 17, 8015404: 8015404
9 GUCY2D NM_000180.3(GUCY2D): c.2516C> T (p.Thr839Met) single nucleotide variant not provided rs61750174 GRCh37 Chromosome 17, 7918022: 7918022
10 GUCY2D NM_000180.3(GUCY2D): c.2516C> T (p.Thr839Met) single nucleotide variant not provided rs61750174 GRCh38 Chromosome 17, 8014704: 8014704
11 GUCY2D NM_000180.3(GUCY2D): c.2512C> A (p.Arg838Ser) single nucleotide variant not provided rs61750172 GRCh37 Chromosome 17, 7918018: 7918018
12 GUCY2D NM_000180.3(GUCY2D): c.2512C> A (p.Arg838Ser) single nucleotide variant not provided rs61750172 GRCh38 Chromosome 17, 8014700: 8014700
13 GUCY2D NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs61750168 GRCh37 Chromosome 17, 7917236: 7917236
14 GUCY2D NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs61750168 GRCh38 Chromosome 17, 8013918: 8013918
15 GUCY2D NM_000180.3(GUCY2D): c.2927G> T (p.Arg976Leu) single nucleotide variant Uncertain significance rs61750184 GRCh37 Chromosome 17, 7918803: 7918803
16 GUCY2D NM_000180.3(GUCY2D): c.2927G> T (p.Arg976Leu) single nucleotide variant Uncertain significance rs61750184 GRCh38 Chromosome 17, 8015485: 8015485
17 GUCY2D NM_000180.3(GUCY2D): c.389del (p.Pro130Leufs) deletion Pathogenic rs61749670 GRCh37 Chromosome 17, 7906754: 7906754
18 GUCY2D NM_000180.3(GUCY2D): c.389del (p.Pro130Leufs) deletion Pathogenic rs61749670 GRCh38 Chromosome 17, 8003436: 8003436
19 GUCY2D NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=) single nucleotide variant Benign rs112372281 GRCh37 Chromosome 17, 7918177: 7918177
20 GUCY2D NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=) single nucleotide variant Benign rs112372281 GRCh38 Chromosome 17, 8014859: 8014859
21 GUCY2D NM_000180.3(GUCY2D): c.3225-7C> T single nucleotide variant Benign rs79887212 GRCh37 Chromosome 17, 7919754: 7919754
22 GUCY2D NM_000180.3(GUCY2D): c.3225-7C> T single nucleotide variant Benign rs79887212 GRCh38 Chromosome 17, 8016436: 8016436
23 GUCY2D NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=) single nucleotide variant Benign rs142351773 GRCh37 Chromosome 17, 7919833: 7919833
24 GUCY2D NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=) single nucleotide variant Benign rs142351773 GRCh38 Chromosome 17, 8016515: 8016515
25 GUCY2D NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs) deletion Pathogenic rs794727952 GRCh37 Chromosome 17, 7915485: 7915485
26 GUCY2D NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs) deletion Pathogenic rs794727952 GRCh38 Chromosome 17, 8012167: 8012167
27 GUCY2D NM_000180.3(GUCY2D): c.3044-7G> T single nucleotide variant Benign rs56348143 GRCh38 Chromosome 17, 8015920: 8015920
28 GUCY2D NM_000180.3(GUCY2D): c.3044-7G> T single nucleotide variant Benign rs56348143 GRCh37 Chromosome 17, 7919238: 7919238
29 GUCY2D NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn) single nucleotide variant Uncertain significance rs181800610 GRCh37 Chromosome 17, 7907061: 7907061
30 GUCY2D NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn) single nucleotide variant Uncertain significance rs181800610 GRCh38 Chromosome 17, 8003743: 8003743
31 GUCY2D NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn) single nucleotide variant Uncertain significance rs201587670 GRCh38 Chromosome 17, 8014880: 8014880
32 GUCY2D NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn) single nucleotide variant Uncertain significance rs201587670 GRCh37 Chromosome 17, 7918198: 7918198
33 GUCY2D NM_000180.3(GUCY2D): c.1119G> A (p.Val373=) single nucleotide variant Benign rs56034424 GRCh37 Chromosome 17, 7909773: 7909773
34 GUCY2D NM_000180.3(GUCY2D): c.1119G> A (p.Val373=) single nucleotide variant Benign rs56034424 GRCh38 Chromosome 17, 8006455: 8006455
35 GUCY2D NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic rs1555635778 GRCh37 Chromosome 17, 7918069: 7918069
36 GUCY2D NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic rs1555635778 GRCh38 Chromosome 17, 8014751: 8014751
37 GUCY2D NM_000180.3(GUCY2D): c.1339C> T (p.Pro447Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 8006675: 8006675
38 GUCY2D NM_000180.3(GUCY2D): c.1339C> T (p.Pro447Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 7909993: 7909993
39 GUCY2D NM_000180.3(GUCY2D): c.2618C> G (p.Pro873Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 7918218: 7918218
40 GUCY2D NM_000180.3(GUCY2D): c.2618C> G (p.Pro873Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 8014900: 8014900
41 GUCY2D NM_000180.3(GUCY2D): c.3224+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 17, 8016291: 8016291
42 GUCY2D NM_000180.3(GUCY2D): c.3224+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 17, 7919609: 7919609
43 GUCY2D NC_000017.11: g.(?_8002902)_(8016550_?)del deletion Pathogenic GRCh38 Chromosome 17, 8002902: 8016550
44 GUCY2D NC_000017.11: g.(?_8002902)_(8016550_?)del deletion Pathogenic GRCh37 Chromosome 17, 7906220: 7919868
45 GUCY2D NM_000180.3(GUCY2D): c.2766C> G (p.Tyr922Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 7918366: 7918366
46 GUCY2D NM_000180.3(GUCY2D): c.2766C> G (p.Tyr922Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 8015048: 8015048

Expression for Cone-Rod Dystrophy 6

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

Pathways for Cone-Rod Dystrophy 6

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 photoreceptor inner segment GO:0001917 9.26 GNAT2 GUCA1A
2 transmembrane transporter complex GO:1902495 9.16 CNGA3 CNGB3
3 photoreceptor disc membrane GO:0097381 9.13 GUCA1A GUCY2D PDE6G
4 photoreceptor outer segment GO:0001750 8.8 CNGB3 GNAT2 RPGR

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.91 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
2 response to stimulus GO:0050896 9.77 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
3 visual perception GO:0007601 9.44 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
4 phototransduction GO:0007602 9.4 GNAT2 GUCA1A
5 positive regulation of epidermal growth factor receptor signaling pathway GO:0045742 9.37 PDE6G PDE6H
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.33 GUCA1A GUCY2D PDE6G
7 positive regulation of G protein-coupled receptor signaling pathway GO:0045745 9.32 PDE6G PDE6H
8 retinal cone cell development GO:0046549 9.26 GNAT2 PDE6C

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

# Name GO ID Score Top Affiliating Genes
1 enzyme inhibitor activity GO:0004857 9.37 PDE6G PDE6H
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.33 PDE6C PDE6G PDE6H
3 intracellular cAMP-activated cation channel activity GO:0005222 9.32 CNGA3 CNGB3
4 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGA3 CNGB3
5 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.26 PDE6C PDE6D PDE6G PDE6H
6 cGMP binding GO:0030553 9.02 CNGA3 CNGB3 PDE6C PDE6G PDE6H

Sources for Cone-Rod Dystrophy 6

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
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35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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