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 56 12 52 73 29 6 15
Retinal Cone Dystrophy 2 56 12 52 71
Cord6 56 12 73 54
Progressive Cone Degeneration 52 6 71
Progressive Cone Dystrophy 58 54 6
Rcd2 56 12 52
Cone Dystrophy 58 71
Retinal Cone Dystrophy 2; Rcd2 56
Dystrophy, Cone-Rod, Type 6 39
Cone Dystrophy Progressive 52
Retinitis Pigmentosa 6 71

Characteristics:

OMIM:

56
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 56 601777
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0271092
Orphanet 58 ORPHA1871
MedGen 41 C1866293
UMLS 71 C0730290 C1839368 C1866293 more

Summaries for Cone-Rod Dystrophy 6

UniProtKB/Swiss-Prot : 73 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 newfoundland rod-cone dystrophy. 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 Phototransduction. The drugs Mitogens and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, 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 189)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 3 35.2 KCNV2 GUCA1A
2 newfoundland rod-cone dystrophy 35.2 RDH5 PRPH2
3 blue cone monochromacy 34.4 PDE6C GUCY2D GNAT2 CNGB3 CNGA3
4 vitreoretinochoroidopathy 34.0 PRPH2 BEST1 ABCA4
5 cone-rod dystrophy, x-linked, 2 33.9 RPGR CACNA1F
6 cone-rod dystrophy, x-linked, 1 33.6 RPGR CACNA1F
7 leber congenital amaurosis 4 32.7 PRPH2 GUCY2D CNGB3
8 oguchi disease 32.5 RDH5 CACNA1F
9 yemenite deaf-blind hypopigmentation syndrome 31.9 RPGR GUCY2D ABCA4
10 night blindness 31.7 RPGR RDH5 PRPH2 KCNV2 GUCY2D CERKL
11 retinitis 31.5 RPGR PRPH2 CERKL ABHD12 ABCA4
12 fundus albipunctatus 31.4 RPGR RDH5 PRPH2 GUCY2D CERKL CACNA1F
13 scotoma 31.3 RPGR KCNV2 GUCY2D GUCA1A CNGB3 CNGA3
14 achromatopsia 31.2 RPGR PRPH2 PDE6C KCNV2 GUCY2D GUCA1A
15 retinal degeneration 31.2 RPGR RDH5 PRPH2 MKKS GUCY2D GUCA1A
16 cone-rod dystrophy 5 31.2 GUCY2D CABP4
17 macular degeneration, age-related, 1 31.1 RPGR RDH5 PRPH2 GUCY2D GNAT2 CNGB3
18 cone-rod dystrophy, x-linked, 3 31.1 RPGR CACNA1F CABP4
19 pathologic nystagmus 31.0 RPGR PDE6C KCNV2 GUCY2D GNAT2 CNGB3
20 usher syndrome 31.0 RPGR PRPH2 GUCY2D GUCA1A GNAT2 CERKL
21 color blindness 31.0 RPGR PDE6C KCNV2 GUCY2D GNAT2 CNGB3
22 cone dystrophy 31.0 RPGR RDH5 PRPH2 PDE6C KCNV2 GUCY2D
23 cone-rod dystrophy 2 31.0 RPGR PRPH2 GUCY2D GUCA1A GNAT2 CNGB3
24 retinoschisis 1, x-linked, juvenile 30.9 RPGR GNAT2 CNGB3 CNGA3 CACNA1F CABP4
25 congenital stationary night blindness 30.9 RPGR RDH5 PRPH2 PDE6C GUCY2D GUCA1A
26 myopia 30.8 RPGR RDH5 CNGB3 CACNA1F
27 gyrate atrophy of choroid and retina 30.8 RPGR PRPH2 ABCA4
28 eye disease 30.8 RPGR PRPH2 GUCY2D GUCA1A CNGB3 CNGA3
29 usher syndrome type 2 30.8 RPGR CERKL ABHD12 ABCA4
30 retinal disease 30.8 RPGR RDH5 PRPH2 MKKS GUCY2D GUCA1A
31 choroideremia 30.8 RPGR CNGB3 CNGA3 ABCA4
32 retinitis pigmentosa 30.8 SRD5A3 RPGR RDH5 PRPH2 PDE6C MKKS
33 inherited retinal disorder 30.8 RPGR RDH5 PRPH2 MKKS KCNV2 GUCY2D
34 leber plus disease 30.6 RPGR RDH5 PRPH2 PDE6C MKKS KCNV2
35 fundus dystrophy 30.5 SRD5A3 RPGR RDH5 PRPH2 PDE6C MKKS
36 stargardt disease 30.4 RPGR RDH5 PRPH2 KCNV2 GUCY2D GUCA1A
37 retinal cone dystrophy 3b 12.8
38 retinal cone dystrophy 3a 12.8
39 retinal cone dystrophy 4 12.7
40 cone dystrophy 4 12.7
41 cone dystrophy, x-linked, with tapetal-like sheen 12.4
42 peripheral cone dystrophy 12.4
43 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 12.4
44 syndromic rod-cone dystrophy 12.4
45 oculoauricular syndrome 11.9
46 retinitis pigmentosa 38 11.6
47 retinitis pigmentosa 69 11.5
48 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
49 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 11.3
50 bardet-biedl syndrome 12 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:

56
Head And Neck Eyes:
photophobia
nystagmus
hemeralopia
glare
decreased central vision
more

Clinical features from OMIM:

601777

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 9.74 GUCY2D
2 Decreased viability GR00055-A-2 9.74 GUCY2D
3 Decreased viability GR00221-A-1 9.74 CERKL GUCY2D
4 Decreased viability GR00221-A-2 9.74 GUCY2D
5 Decreased viability GR00221-A-3 9.74 CERKL GUCY2D
6 Decreased viability GR00221-A-4 9.74 GUCY2D
7 Decreased viability GR00240-S-1 9.74 GUCY2D RDH5
8 Decreased viability GR00249-S 9.74 GUCY2D KCNV2 PRPH2
9 Decreased viability GR00381-A-1 9.74 GUCA1A RDH5
10 Decreased viability GR00386-A-1 9.74 CFAP410 GNAT2 GUCA1A GUCY2D KCNV2 PRPH2
11 Decreased viability GR00402-S-2 9.74 BEST1 GUCY2D KCNV2 PRPH2

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 6:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.86 ABCA4 ABHD12 ARL3 CABP4 CACNA1F CNGA3
2 vision/eye MP:0005391 9.58 ABCA4 ABHD12 ARL3 BEST1 CABP4 CACNA1F

Drugs & Therapeutics for Cone-Rod Dystrophy 6

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mitogens Phase 1, Phase 2
2 Pharmaceutical Solutions Phase 1, Phase 2
3 Ophthalmic Solutions Phase 1, Phase 2
4 Antiviral Agents Phase 1, Phase 2
5 interferons Phase 1, Phase 2
6 Interferon-gamma Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8
Sodium citrate Approved, Investigational 68-04-2
9
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
10 Citrate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
2 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
3 Effects of Subtenon-injected Autologous Platelet-rich Plasma on Visual Functions in Eyes With Retinitis Pigmentosa Completed NCT04238858
4 One-Year Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6A or PDE6B Mutations Recruiting NCT04285398
5 Phenotype Correlates Genotype of Inherited Retina Dystrophies Recruiting NCT03990727
6 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
7 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
8 Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B. Active, not recruiting NCT03975543
9 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867

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, Bone

Publications for Cone-Rod Dystrophy 6

Articles related to Cone-Rod Dystrophy 6:

(show all 31)
# Title Authors PMID Year
1
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. 56 6 61 54
10647719 2000
2
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 6 56 61
12552567 2003
3
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 6 56 61
9618177 1998
4
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. 56 6 61
9097965 1997
5
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. 56 6
20517349 2010
6
Clinical study of a large family with autosomal dominant progressive cone degeneration. 56 6
8554074 1996
7
Cone rod dystrophies. 6
17270046 2007
8
Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. 56
11709018 2001
9
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
10
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 6
10951519 2000
11
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
12
A retGC-1 mutation in autosomal dominant cone-rod dystrophy. 56
9683616 1998
13
Mapping of autosomal dominant cone degeneration to chromosome 17p. 56
8554076 1996
14
Retinal diseases linked with photoreceptor guanylate cyclase. 54 61
11952088 2002
15
Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. 61 54
11115851 2000
16
Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling. 54 61
10529237 1999
17
Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. 61
31470097 2020
18
Somatic Gene Editing of GUCY2D by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque. 61
30358434 2019
19
CO2/bicarbonate modulates cone photoreceptor ROS-GC1 and restores its CORD6-linked catalytic activity. 61
29427171 2018
20
GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. 61
29440533 2018
21
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
22
Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology. 61
23328348 2013
23
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. 61
22695961 2012
24
Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6. 61
21218126 2011
25
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. 54
20079539 2010
26
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. 54
12906118 2003
27
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
28
CNGA3 mutations in hereditary cone photoreceptor disorders. 54
11536077 2001
29
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. 54
11448328 2001
30
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. 54
11053295 2000
31
X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis. 54
8123616 1994

Variations for Cone-Rod Dystrophy 6

ClinVar genetic disease variations for Cone-Rod Dystrophy 6:

6 (show top 50) (show all 162) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFAP410 NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)SNV Pathogenic 428573 rs140451304 21:45753071-45753071 21:44333188-44333188
2 ABCA4 NM_000350.3(ABCA4):c.885del (p.Leu296fs)deletion Pathogenic 438109 rs764759172 1:94546248-94546248 1:94080692-94080692
3 CABP4 NM_145200.4(CABP4):c.673C>T (p.Arg225Ter)SNV Pathogenic 438047 rs531851447 11:67225863-67225863 11:67458392-67458392
4 GUCY2D NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)SNV Pathogenic 497765 rs1555635778 17:7918069-7918069 17:8014751-8014751
5 ABHD12 NM_001042472.3(ABHD12):c.447G>A (p.Trp149Ter)SNV Pathogenic 560424 rs1568725951 20:25300930-25300930 20:25320294-25320294
6 GUCY2D NM_000180.4(GUCY2D):c.3224+1G>CSNV Pathogenic 581095 rs757823463 17:7919609-7919609 17:8016291-8016291
7 GUCY2D NC_000017.11:g.(?_8002902)_(8016550_?)deldeletion Pathogenic 584235 17:7906220-7919868 17:8002902-8016550
8 GUCY2D NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)SNV Pathogenic 587413 rs1006935198 17:7918366-7918366 17:8015048-8015048
9 ARL3 NM_004311.4(ARL3):c.296G>T (p.Arg99Ile)SNV Pathogenic 617788 10:104449669-104449669 10:102689912-102689912
10 KCNV2 NM_133497.4(KCNV2):c.357dup (p.Lys120fs)duplication Pathogenic 636178 rs1402837406 9:2718092-2718093 9:2718092-2718093
11 GUCY2D NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)SNV Pathogenic 638494 17:7910841-7910841 17:8007523-8007523
12 GUCY2D NM_000180.4(GUCY2D):c.914del (p.His305fs)deletion Pathogenic 642720 17:7907362-7907362 17:8004044-8004044
13 GUCY2D NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)SNV Pathogenic 861650 17:7911255-7911255 17:8007937-8007937
14 GUCY2D NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)deletion Pathogenic 803313 17:7909895-7909895 17:8006577-8006577
15 GUCY2D NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)deletion Pathogenic 861651 17:7918195-7918195 17:8014877-8014877
16 GUCY2D NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)SNV Pathogenic 851765 17:7919104-7919104 17:8015786-8015786
17 GUCY2D NM_000180.4(GUCY2D):c.2945-2A>CSNV Pathogenic 915393 17:7919059-7919059 17:8015741-8015741
18 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
19 GUCY2D NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys)SNV Pathogenic 9355 rs61750172 17:7918018-7918018 17:8014700-8014700
20 GUCY2D NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)SNV Pathogenic 9357 rs61750173 17:7918019-7918019 17:8014701-8014701
21 GUCY2D NM_000180.4(GUCY2D):c.2846T>C (p.Ile949Thr)SNV Pathogenic 9359 rs267606857 17:7918722-7918722 17:8015404-8015404
22 RPGR NM_000328.3(RPGR):c.1905+1191_1905+1192deldeletion Pathogenic 9910 rs606231180 X:38145155-38145156 X:38285902-38285903
23 PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)SNV Pathogenic 13183 rs61755783 6:42689649-42689649 6:42721911-42721911
24 GUCY2D NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)SNV Pathogenic 864510 17:7919266-7919266 17:8015948-8015948
25 GUCY2D NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)SNV Pathogenic 98540 rs61749679 17:7909997-7909997 17:8006679-8006679
26 SRD5A3 NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)SNV Pathogenic 96125 rs398124401 4:56212560-56212560 4:55346393-55346393
27 GUCY2D NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)SNV Pathogenic 98554 rs61750161 17:7915789-7915789 17:8012471-8012471
28 GUCY2D NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)SNV Pathogenic 98563 rs61750168 17:7917236-7917236 17:8013918-8013918
29 ABCA4 NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)SNV Pathogenic 99476 rs61753046 1:94463488-94463488 1:93997932-93997932
30 GUCY2D NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)deletion Pathogenic 98602 rs61749670 17:7906752-7906752 17:8003434-8003434
31 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)SNV Pathogenic/Likely pathogenic 99428 rs61750641 1:94471055-94471055 1:94005499-94005499
32 GUCY2D NM_000180.4(GUCY2D):c.1957-2A>GSNV Pathogenic/Likely pathogenic 803315 17:7915766-7915766 17:8012448-8012448
33 MKKS NM_018848.3(MKKS):c.1239_1242dup (p.Thr415Ter)duplication Pathogenic/Likely pathogenic 585164 rs1306231185 20:10388293-10388294 20:10407645-10407646
34 CACNA1F NM_001256789.3(CACNA1F):c.3853C>T (p.Arg1285Cys)SNV Pathogenic/Likely pathogenic 438126 rs1557106557 X:49069216-49069216 X:49212756-49212756
35 CACNA2D4 deletion Likely pathogenic 438233 12:1948911-1984652 12:1839745-1875486
36 NPHP1 deletion Likely pathogenic 438246 2:110853523-110984470 2:110095946-110226893
37 NMNAT1 NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys)SNV Likely pathogenic 438390 rs1271498710 1:10035805-10035805 1:9975747-9975747
38 GUCY2D NM_000180.4(GUCY2D):c.238_252del (p.Ala80_Leu84del)deletion Likely pathogenic 437979 rs952193754 17:7906591-7906605 17:8003273-8003287
39 CNGA3 NM_001298.3(CNGA3):c.1405G>A (p.Ala469Thr)SNV Likely pathogenic 438156 rs117522010 2:99013038-99013038 2:98396575-98396575
40 BBS5 NM_152384.3(BBS5):c.412C>T (p.Arg138Cys)SNV Likely pathogenic 437993 rs1238632042 2:170349409-170349409 2:169492899-169492899
41 PCDH15 NM_033056.4(PCDH15):c.5845_5846CA[1] (p.His1949fs)short repeat Likely pathogenic 636185 10:55581638-55581639 10:53821878-53821879
42 GUCY2D NM_000180.4(GUCY2D):c.2516C>G (p.Thr839Arg)SNV Likely pathogenic 635421 17:7918022-7918022 17:8014704-8014704
43 PDE6B NM_000283.3(PDE6B):c.1670A>G (p.His557Arg)SNV Likely pathogenic 636186 4:655978-655978 4:662189-662189
44 PDE6C NM_006204.4(PDE6C):c.490T>C (p.Phe164Leu)SNV Likely pathogenic 812373 10:95380398-95380398 10:93620641-93620641
45 GUCY2D NM_000180.4(GUCY2D):c.1972C>T (p.His658Tyr)SNV Likely pathogenic 803316 17:7915783-7915783 17:8012465-8012465
46 GUCY2D NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)SNV Likely pathogenic 98590 rs61749668 17:7906672-7906672 17:8003354-8003354
47 USH2A NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)SNV Conflicting interpretations of pathogenicity 48547 rs41303287 1:216243517-216243517 1:216070175-216070175
48 BBS5 NM_152384.3(BBS5):c.551A>G (p.Asn184Ser)SNV Conflicting interpretations of pathogenicity 100605 rs137853921 2:170350279-170350279 2:169493769-169493769
49 GUCY2D NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)SNV Conflicting interpretations of pathogenicity 143061 rs201414567 17:7906529-7906529 17:8003211-8003211
50 ABHD12 NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro)SNV Conflicting interpretations of pathogenicity 143237 rs587777604 20:25297700-25297700 20:25317064-25317064

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

73
# 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

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 ciliary basal body GO:0036064 9.58 RPGR MKKS CFAP410
2 cell projection GO:0042995 9.56 RPGR PRPH2 GUCY2D GUCA1A GNAT2 CFAP410
3 photoreceptor inner segment GO:0001917 9.5 PRPH2 GNAT2 CERKL
4 photoreceptor outer segment membrane GO:0042622 9.37 GUCY2D GNAT2
5 photoreceptor disc membrane GO:0097381 9.33 GUCY2D GUCA1A ABCA4
6 photoreceptor outer segment GO:0001750 9.32 RPGR PRPH2 GUCY2D GUCA1A GNAT2 CNGB3
7 transmembrane transporter complex GO:1902495 9.26 CNGB3 CNGA3

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 9.8 KCNV2 CNGB3 CNGA3 CACNA1F BEST1
2 response to stimulus GO:0050896 9.77 RPGR RDH5 PRPH2 PDE6C MKKS GUCY2D
3 cilium assembly GO:0060271 9.62 RPGR MKKS CFAP410 ARL3
4 visual perception GO:0007601 9.47 RPGR RDH5 PRPH2 PDE6C MKKS GUCY2D
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.43 GUCY2D GUCA1A
6 detection of light stimulus involved in visual perception GO:0050908 9.43 GNAT2 CACNA1F BEST1
7 phototransduction, visible light GO:0007603 9.37 PDE6C ABCA4
8 retinal cone cell development GO:0046549 9.33 PDE6C GNAT2 CABP4

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 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB3 CNGA3
4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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