MCID: CNR007
MIFTS: 44

Cone-Rod Dystrophy 6

Categories: Genetic diseases, Rare diseases, Eye 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
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
cone-rod dystrophy 6:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 601777
Disease Ontology 12 DOID:0111011
Orphanet 59 ORPHA1871
UMLS via Orphanet 74 C0271092
ICD10 via Orphanet 34 H35.5
MedGen 42 C1866293
MeSH 44 D058499

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 and cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy 6 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are CREB Pathway 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, and related phenotypes are visual impairment and abnormal electroretinogram

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 28.7 CNGB3 GUCA1A PDE6C RPGR
2 cone-rod dystrophy 2 28.2 CNGB3 GNAT2 GUCA1A GUCY2D RPGR
3 achromatopsia 27.3 CNGA3 CNGB3 GNAT2 PDE6C RPGR
4 fundus dystrophy 25.6 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D RDH5
5 retinal cone dystrophy 3b 12.5
6 cone-rod dystrophy, x-linked, 2 11.1
7 leber congenital amaurosis 1 10.4 GUCA1A GUCY2D
8 eye degenerative disease 10.4 GUCA1A GUCY2D
9 choroidal dystrophy, central areolar, 1 10.3 GUCA1A GUCY2D
10 hereditary choroidal atrophy 10.2 GUCA1A GUCY2D
11 stargardt disease 1 10.2 CNGB3 GNAT2
12 partial central choroid dystrophy 10.2 GUCA1A GUCY2D
13 yemenite deaf-blind hypopigmentation syndrome 10.1 GUCY2D RPGR
14 choroid disease 10.1 CNGB3 RPGR
15 pathologic nystagmus 10.1 CNGA3 GNAT2
16 achromatopsia 2 10.0 CNGA3 CNGB3
17 tritanopia 10.0 CNGB3 GUCY2D
18 retinitis 9.9
19 retinal degeneration 9.8 GUCA1A GUCY2D RPGR
20 blue cone monochromacy 9.7 CNGA3 CNGB3
21 stargardt disease 9.7 CNGB3 GNAT2 RPGR
22 retinoschisis 1, x-linked, juvenile 9.7 CNGB3 RPGR
23 achromatopsia 4 9.6 CNGA3 CNGB3 GNAT2
24 retinitis pigmentosa 44 9.4 CNGA3 CNGB3 RPGR
25 achromatopsia 3 9.2 CNGA3 CNGB3 GNAT2 GUCY2D
26 prolonged electroretinal response suppression 9.2 GUCY2D RDH5
27 retinitis pigmentosa 26 9.1 CNGA3 CNGB3 GUCY2D RPGR
28 oligocone trichromacy 9.1 CNGA3 CNGB3 GNAT2 PDE6C
29 jalili syndrome 9.0 CNGA3 CNGB3 GNAT2 PDE6C
30 color blindness 9.0 CNGA3 CNGB3 GNAT2 PDE6C
31 leber congenital amaurosis 8.5 CNGA3 CNGB3 GUCA1A GUCY2D RPGR
32 retinitis pigmentosa 8.1 CNGA3 GUCA1A GUCY2D RDH5 RPGR
33 retinal disease 7.6 CNGA3 CNGB3 GUCA1A GUCY2D RDH5 RPGR

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 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
3 abnormality of color vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000551
4 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
5 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
6 cone/cone-rod dystrophy 32 HP:0000548
7 reduced visual acuity 32 HP:0007663
8 peripheral visual field loss 32 HP:0007994

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

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.62 CNGA3 GUCA1A RPGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 CNGA3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.62 CNGA3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.62 RPGR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.62 RPGR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.62 RPGR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 GUCA1A
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.62 GUCA1A RPGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.62 CNGA3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.62 GUCA1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.62 RPGR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.62 RPGR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.62 RPGR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.62 GUCA1A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.62 RPGR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.62 GUCA1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.62 GUCA1A

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
2 vision/eye MP:0005391 9.23 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 441141 14969
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

Publications for Cone-Rod Dystrophy 6

Articles related to Cone-Rod Dystrophy 6:

# Title Authors Year
1
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. ( 18487367 )
2008
2
New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration. ( 18332321 )
2008
3
Clinical study of a large family with autosomal dominant progressive cone degeneration. ( 8554074 )
1996
4
Acuity-luminance function in achromatopsia and in progressive cone degeneration: factors related to individual differences in tolerance to bright light. ( 4538488 )
1972

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 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 GUCY2D NM_000180.3(GUCY2D): c.2512C> T (p.Arg838Cys) single nucleotide variant Pathogenic rs61750172 GRCh37 Chromosome 17, 7918018: 7918018
2 GUCY2D NM_000180.3(GUCY2D): c.2512C> T (p.Arg838Cys) single nucleotide variant Pathogenic rs61750172 GRCh38 Chromosome 17, 8014700: 8014700
3 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh37 Chromosome 17, 7918019: 7918019
4 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh38 Chromosome 17, 8014701: 8014701
5 GUCY2D NM_000180.3(GUCY2D): c.2846T> C (p.Ile949Thr) single nucleotide variant Pathogenic rs267606857 GRCh37 Chromosome 17, 7918722: 7918722
6 GUCY2D NM_000180.3(GUCY2D): c.2846T> C (p.Ile949Thr) single nucleotide variant Pathogenic rs267606857 GRCh38 Chromosome 17, 8015404: 8015404
7 GUCY2D NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs61750168 GRCh37 Chromosome 17, 7917236: 7917236
8 GUCY2D NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs61750168 GRCh38 Chromosome 17, 8013918: 8013918
9 GUCY2D NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=) single nucleotide variant Benign rs112372281 GRCh37 Chromosome 17, 7918177: 7918177
10 GUCY2D NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=) single nucleotide variant Benign rs112372281 GRCh38 Chromosome 17, 8014859: 8014859
11 GUCY2D NM_000180.3(GUCY2D): c.3225-7C> T single nucleotide variant Benign rs79887212 GRCh37 Chromosome 17, 7919754: 7919754
12 GUCY2D NM_000180.3(GUCY2D): c.3225-7C> T single nucleotide variant Benign rs79887212 GRCh38 Chromosome 17, 8016436: 8016436
13 GUCY2D NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=) single nucleotide variant Benign rs142351773 GRCh37 Chromosome 17, 7919833: 7919833
14 GUCY2D NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=) single nucleotide variant Benign rs142351773 GRCh38 Chromosome 17, 8016515: 8016515
15 GUCY2D NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs) deletion Pathogenic rs794727952 GRCh37 Chromosome 17, 7915485: 7915485
16 GUCY2D NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs) deletion Pathogenic rs794727952 GRCh38 Chromosome 17, 8012167: 8012167
17 GUCY2D NM_000180.3(GUCY2D): c.3044-7G> T single nucleotide variant Benign rs56348143 GRCh38 Chromosome 17, 8015920: 8015920
18 GUCY2D NM_000180.3(GUCY2D): c.3044-7G> T single nucleotide variant Benign rs56348143 GRCh37 Chromosome 17, 7919238: 7919238
19 GUCY2D NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn) single nucleotide variant Uncertain significance rs181800610 GRCh37 Chromosome 17, 7907061: 7907061
20 GUCY2D NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn) single nucleotide variant Uncertain significance rs181800610 GRCh38 Chromosome 17, 8003743: 8003743
21 GUCY2D NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn) single nucleotide variant Uncertain significance rs201587670 GRCh37 Chromosome 17, 7918198: 7918198
22 GUCY2D NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn) single nucleotide variant Uncertain significance rs201587670 GRCh38 Chromosome 17, 8014880: 8014880
23 GUCY2D NM_000180.3(GUCY2D): c.1119G> A (p.Val373=) single nucleotide variant Benign rs56034424 GRCh37 Chromosome 17, 7909773: 7909773
24 GUCY2D NM_000180.3(GUCY2D): c.1119G> A (p.Val373=) single nucleotide variant Benign rs56034424 GRCh38 Chromosome 17, 8006455: 8006455
25 GUCY2D NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 7918069: 7918069
26 GUCY2D NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 8014751: 8014751

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 9.32 GNAT2 GUCA1A
2 photoreceptor disc membrane GO:0097381 9.26 GUCA1A GUCY2D
3 photoreceptor outer segment membrane GO:0042622 9.16 CNGA3 GNAT2
4 photoreceptor outer segment GO:0001750 9.13 CNGB3 GNAT2 RPGR
5 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

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 9.73 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
2 response to stimulus GO:0050896 9.56 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
3 cation transport GO:0006812 9.43 CNGA3 CNGB3
4 cation transmembrane transport GO:0098655 9.4 CNGA3 CNGB3
5 phototransduction GO:0007602 9.37 GNAT2 GUCA1A
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.32 GUCA1A GUCY2D
7 visual perception GO:0007601 9.23 CNGA3 CNGB3 GNAT2 GUCA1A GUCY2D PDE6C
8 retinal cone cell development GO:0046549 9.16 GNAT2 PDE6C

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 9.26 CNGA3 CNGB3
2 intracellular cAMP activated cation channel activity GO:0005222 9.16 CNGA3 CNGB3
3 intracellular cGMP activated cation channel activity GO:0005223 8.96 CNGA3 CNGB3
4 cGMP binding GO:0030553 8.8 CNGA3 CNGB3 PDE6C

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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