CORD6
MCID: CNR007
MIFTS: 49

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 53 75 29 6 15
Retinal Cone Dystrophy 2 57 12 53 73
Cord6 57 12 75 55
Rcd2 57 12 53
Progressive Cone Degeneration 53 73
Progressive Cone Dystrophy 59 55
Cone Dystrophy 59 73
Retinal Cone Dystrophy 2; Rcd2 57
Dystrophy, Cone-Rod, Type 6 40
Cone Dystrophy Progressive 53
Retinitis Pigmentosa 6 73

Characteristics:

OMIM:

57
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:

32

Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Cone-Rod Dystrophy 6

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Cone-Rod Dystrophy 6 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Purine metabolism (KEGG) and Metabolism of fat-soluble vitamins. The drugs Vancomycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and retina, 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 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 80)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 3 33.9 GUCA1A PDE6H
2 cone dystrophy 33.5 CNGB3 GUCA1A PDE6C PDE6H RPGR
3 blue cone monochromacy 33.0 CNGA3 CNGB3
4 retinitis pigmentosa 30.5 CNGA3 GUCA1A GUCY2D PDE6D PDE6G PRCD
5 cone-rod dystrophy 2 30.1 GNAT2 GUCA1A GUCY2D RPGR
6 retinal degeneration 29.5 GUCA1A GUCY2D RD3 RPGR
7 achromatopsia 29.4 CNGA3 CNGB3 GNAT2 PDE6C PDE6H RPGR
8 fundus dystrophy 28.9 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
9 retinal cone dystrophy 3b 12.7
10 retinal cone dystrophy 3a 12.6
11 newfoundland rod-cone dystrophy 12.6
12 cone dystrophy 4 12.5
13 retinal cone dystrophy 4 12.4
14 cone dystrophy, x-linked, with tapetal-like sheen 12.3
15 peripheral cone dystrophy 12.3
16 retinal cone dystrophy 1 12.2
17 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 12.1
18 oculoauricular syndrome 11.7
19 vitreoretinochoroidopathy 11.5
20 cone-rod dystrophy, x-linked, 1 11.5
21 cone-rod dystrophy, x-linked, 2 11.4
22 retinitis pigmentosa 38 11.1
23 leber congenital amaurosis 4 11.0
24 retinitis pigmentosa 69 11.0
25 bardet-biedl syndrome 12 11.0
26 retinal dystrophy and obesity 11.0
27 oguchi disease 11.0
28 eye degenerative disease 10.2 GUCA1A GUCY2D
29 fundus albipunctatus 10.2
30 choroidal dystrophy, central areolar, 1 10.2 GUCA1A GUCY2D
31 cone-rod dystrophy 5 10.2 CNGB3 GUCY2D
32 hereditary choroidal atrophy 10.2 GUCA1A GUCY2D
33 achromatopsia 2 10.2 CNGA3 CNGB3
34 partial central choroid dystrophy 10.2 GUCA1A GUCY2D
35 stargardt disease 1 10.1 CNGB3 GNAT2
36 tritanopia 10.1 CNGB3 GUCY2D
37 choroid disease 10.1 CNGB3 RPGR
38 liver disease 10.1
39 leber congenital amaurosis 12 10.1 GUCY2D RD3
40 achromatopsia 4 10.1 CNGA3 CNGB3 GNAT2
41 pathologic nystagmus 10.1 CNGA3 CNGB3 GNAT2
42 retinitis pigmentosa 17 10.0 PDE6G PRCD
43 retinitis pigmentosa 44 10.0 CNGA3 CNGB3 RPGR
44 yemenite deaf-blind hypopigmentation syndrome 10.0 GUCY2D RPGR
45 leber congenital amaurosis 1 10.0 GUCA1A GUCY2D RD3
46 cataract 10.0
47 keratoconus 10.0
48 myopia 10.0
49 achromatopsia 3 10.0 CNGA3 CNGB3 GNAT2 GUCY2D
50 oligocone trichromacy 10.0 CNGA3 CNGB3 GNAT2 PDE6C

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
photophobia
hemeralopia
glare
decreased central vision
more

Clinical features from OMIM:

601777

Human phenotypes related to Cone-Rod Dystrophy 6:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
3 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
4 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
5 abnormality of color vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000551
6 nystagmus 32 HP:0000639
7 reduced visual acuity 32 HP:0007663
8 progressive night blindness 32 HP:0007675
9 cone/cone-rod dystrophy 32 HP:0000548
10 hemeralopia 32 HP:0012047
11 peripheral visual field loss 32 HP:0007994
12 macular atrophy 32 HP:0007401

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 6:

46
# 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 29 GUCY2D

Anatomical Context for Cone-Rod Dystrophy 6

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

41
Eye, Bone, Retina, Liver

Publications for Cone-Rod Dystrophy 6

Articles related to Cone-Rod Dystrophy 6:

# Title Authors Year
1
<i>GUCY2D</i> Cone-Rod Dystrophy-6 is a 'Phototransduction Disease' Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. ( 29440533 )
2018
2
Use of Spectral Domain OCT to Visualize Photoreceptor Abnormalities in Cone/Rod Dystrophy-6. ( 21218126 )
2011

Variations for Cone-Rod Dystrophy 6

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

75
# 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 42)
# 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.389del (p.Pro130Leufs) deletion Pathogenic rs61749670 GRCh37 Chromosome 17, 7906754: 7906754
16 GUCY2D NM_000180.3(GUCY2D): c.389del (p.Pro130Leufs) deletion Pathogenic rs61749670 GRCh38 Chromosome 17, 8003436: 8003436
17 GUCY2D NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=) single nucleotide variant Benign rs112372281 GRCh37 Chromosome 17, 7918177: 7918177
18 GUCY2D NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=) single nucleotide variant Benign rs112372281 GRCh38 Chromosome 17, 8014859: 8014859
19 GUCY2D NM_000180.3(GUCY2D): c.3225-7C> T single nucleotide variant Benign rs79887212 GRCh37 Chromosome 17, 7919754: 7919754
20 GUCY2D NM_000180.3(GUCY2D): c.3225-7C> T single nucleotide variant Benign rs79887212 GRCh38 Chromosome 17, 8016436: 8016436
21 GUCY2D NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=) single nucleotide variant Benign rs142351773 GRCh37 Chromosome 17, 7919833: 7919833
22 GUCY2D NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=) single nucleotide variant Benign rs142351773 GRCh38 Chromosome 17, 8016515: 8016515
23 GUCY2D NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs) deletion Pathogenic rs794727952 GRCh37 Chromosome 17, 7915485: 7915485
24 GUCY2D NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs) deletion Pathogenic rs794727952 GRCh38 Chromosome 17, 8012167: 8012167
25 GUCY2D NM_000180.3(GUCY2D): c.3044-7G> T single nucleotide variant Benign rs56348143 GRCh38 Chromosome 17, 8015920: 8015920
26 GUCY2D NM_000180.3(GUCY2D): c.3044-7G> T single nucleotide variant Benign rs56348143 GRCh37 Chromosome 17, 7919238: 7919238
27 GUCY2D NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn) single nucleotide variant Uncertain significance rs181800610 GRCh38 Chromosome 17, 8003743: 8003743
28 GUCY2D NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn) single nucleotide variant Uncertain significance rs181800610 GRCh37 Chromosome 17, 7907061: 7907061
29 GUCY2D NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn) single nucleotide variant Uncertain significance rs201587670 GRCh38 Chromosome 17, 8014880: 8014880
30 GUCY2D NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn) single nucleotide variant Uncertain significance rs201587670 GRCh37 Chromosome 17, 7918198: 7918198
31 GUCY2D NM_000180.3(GUCY2D): c.1119G> A (p.Val373=) single nucleotide variant Benign rs56034424 GRCh37 Chromosome 17, 7909773: 7909773
32 GUCY2D NM_000180.3(GUCY2D): c.1119G> A (p.Val373=) single nucleotide variant Benign rs56034424 GRCh38 Chromosome 17, 8006455: 8006455
33 GUCY2D NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 8014751: 8014751
34 GUCY2D NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 7918069: 7918069
35 GUCY2D NM_000180.3(GUCY2D): c.1339C> T (p.Pro447Ser) single nucleotide variant Uncertain significance rs1029006549 GRCh38 Chromosome 17, 8006675: 8006675
36 GUCY2D NM_000180.3(GUCY2D): c.1339C> T (p.Pro447Ser) single nucleotide variant Uncertain significance rs1029006549 GRCh37 Chromosome 17, 7909993: 7909993
37 GUCY2D NM_000180.3(GUCY2D): c.2618C> G (p.Pro873Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 7918218: 7918218
38 GUCY2D NM_000180.3(GUCY2D): c.2618C> G (p.Pro873Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 8014900: 8014900
39 GUCY2D NM_000180.3(GUCY2D): c.3224+1G> C single nucleotide variant Pathogenic rs757823463 GRCh38 Chromosome 17, 8016291: 8016291
40 GUCY2D NM_000180.3(GUCY2D): c.3224+1G> C single nucleotide variant Pathogenic rs757823463 GRCh37 Chromosome 17, 7919609: 7919609
41 GUCY2D NC_000017.11: g.(?_8002902)_(8016550_?)del deletion Pathogenic GRCh38 Chromosome 17, 8002902: 8016550
42 GUCY2D NC_000017.11: g.(?_8002902)_(8016550_?)del deletion Pathogenic GRCh37 Chromosome 17, 7906220: 7919868

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 8.92 CNGB3 GNAT2 PRCD 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 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
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