COD3
MCID: CND011
MIFTS: 32

Cone Dystrophy 3 (COD3)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone Dystrophy 3

MalaCards integrated aliases for Cone Dystrophy 3:

Name: Cone Dystrophy 3 58 76 30 6 45 74
Cone-Rod Dystrophy 14 58 12
Cone Dystrophy-3 58 13
Cod3 58 76
Dystrophy, Cone, Type 3 ) 41
Retinal Cone Dystrophy 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial phenotypic variability
onset in the first two decades of life


HPO:

33
cone dystrophy 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080314
OMIM 58 602093
MedGen 43 C1865869

Summaries for Cone Dystrophy 3

OMIM : 58 Progressive cone dystrophy usually presents in childhood or early adult life, with many patients developing rod photoreceptor involvement in later life, thereby leading to considerable overlap between progressive cone dystrophy and cone-rod dystrophy. Both progressive cone dystrophy and cone-rod dystrophy have been associated with mutation in the GUCA1A gene (Michaelides et al., 2006). Intrafamilial variability in GUCA1A-associated macular disease ranges from mild photoreceptor degeneration to central areolar choroidal dystrophy (CACD), a form of retinal degeneration that primarily involves the macula and is characterized by a well-defined atrophic region of retinal pigment epithelium and choriocapillaris in the latest stage (Chen et al., 2017). (602093)

MalaCards based summary : Cone Dystrophy 3, also known as cone-rod dystrophy 14, is related to retinal cone dystrophy 4 and cone-rod dystrophy 6, and has symptoms including photophobia An important gene associated with Cone Dystrophy 3 is GUCA1A (Guanylate Cyclase Activator 1A), and among its related pathways/superpathways is Phototransduction. Affiliated tissues include eye, and related phenotypes are macular atrophy and photophobia

Disease Ontology : 12 A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has material basis in mutation in GUCA1A on chromosome 6p21.1.

UniProtKB/Swiss-Prot : 76 Cone dystrophy 3: An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.

Related Diseases for Cone Dystrophy 3

Diseases in the Cone Dystrophy family:

Cone Dystrophy 3 Cone Dystrophy 4

Diseases related to Cone Dystrophy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 retinal cone dystrophy 4 33.9 CACNA2D4 LOC105369602
2 cone-rod dystrophy 6 32.4 GUCA1A PDE6H
3 retinal cone dystrophy 3a 31.9 LOC105369670 PDE6H
4 cone dystrophy 31.4 CACNA2D4 GUCA1A KCNV2 PDE6H
5 retinal cone dystrophy 3b 12.4
6 retinal cone dystrophy 1 12.3
7 light fixation seizure syndrome 10.0
8 chromosome 6q deletion 10.0
9 cone dystrophy 4 9.9 CACNA2D4 LOC105369602
10 fundus dystrophy 9.8 GUCA1A KCNV2 PDE6H
11 achromatopsia 9.8 LOC105369670 PDE6H

Graphical network of the top 20 diseases related to Cone Dystrophy 3:



Diseases related to Cone Dystrophy 3

Symptoms & Phenotypes for Cone Dystrophy 3

Human phenotypes related to Cone Dystrophy 3:

33
# Description HPO Frequency HPO Source Accession
1 macular atrophy 33 occasional (7.5%) HP:0007401
2 photophobia 33 HP:0000613
3 progressive visual loss 33 HP:0000529
4 reduced visual acuity 33 HP:0007663
5 cone/cone-rod dystrophy 33 HP:0000548

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
photophobia
central scotomas
decreased central vision
progressive vision loss
decreased color vision
more

Clinical features from OMIM:

602093

UMLS symptoms related to Cone Dystrophy 3:


photophobia

Drugs & Therapeutics for Cone Dystrophy 3

Search Clinical Trials , NIH Clinical Center for Cone Dystrophy 3

Cochrane evidence based reviews: cone dystrophy 3

Genetic Tests for Cone Dystrophy 3

Genetic tests related to Cone Dystrophy 3:

# Genetic test Affiliating Genes
1 Cone Dystrophy 3 30 GUCA1A

Anatomical Context for Cone Dystrophy 3

MalaCards organs/tissues related to Cone Dystrophy 3:

42
Eye

Publications for Cone Dystrophy 3

Articles related to Cone Dystrophy 3:

(show all 13)
# Title Authors Year
1
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. ( 28125083 )
2017
2
Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase. ( 26358777 )
2015
3
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. ( 24024198 )
2013
4
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). ( 15735604 )
2005
5
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). ( 15790869 )
2005
6
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. ( 15953638 )
2005
7
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. ( 11146732 )
2001
8
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. ( 9934988 )
1999
9
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. ( 9425234 )
1998
10
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. ( 9702199 )
1998
11
Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration. ( 9651312 )
1998
12
Chromosome 6q deletion and retinal cone dystrophy. ( 2012125 )
1991
13
Retinal cone dystrophy and chromosome 6(q26) deletions. ( 2241088 )
1990

Variations for Cone Dystrophy 3

UniProtKB/Swiss-Prot genetic disease variations for Cone Dystrophy 3:

76
# Symbol AA change Variation ID SNP ID
1 GUCA1A p.Tyr99Cys VAR_001372 rs104893967
2 GUCA1A p.Pro50Leu VAR_010648 rs104893968
3 GUCA1A p.Glu155Gly VAR_012987
4 GUCA1A p.Glu89Lys VAR_060802
5 GUCA1A p.Asp100Glu VAR_060803
6 GUCA1A p.Leu151Phe VAR_060806 rs121434631
7 GUCA1A p.Gly159Val VAR_060807

ClinVar genetic disease variations for Cone Dystrophy 3:

6 (show top 50) (show all 350)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA2D4 NM_172364.4(CACNA2D4): c.2406C> A (p.Tyr802Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71454844 GRCh37 Chromosome 12, 1953632: 1953632
2 CACNA2D4 NM_172364.4(CACNA2D4): c.2406C> A (p.Tyr802Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs71454844 GRCh38 Chromosome 12, 1844466: 1844466
3 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs104893967 GRCh37 Chromosome 6, 42146112: 42146112
4 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs104893967 GRCh38 Chromosome 6, 42178374: 42178374
5 GUCA1A NM_000409.4(GUCA1A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs104893968 GRCh37 Chromosome 6, 42141500: 42141500
6 GUCA1A NM_000409.4(GUCA1A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs104893968 GRCh38 Chromosome 6, 42173762: 42173762
7 GUCA1A NM_000409.4(GUCA1A): c.451C> T (p.Leu151Phe) single nucleotide variant Pathogenic rs121434631 GRCh37 Chromosome 6, 42146986: 42146986
8 GUCA1A NM_000409.4(GUCA1A): c.451C> T (p.Leu151Phe) single nucleotide variant Pathogenic rs121434631 GRCh38 Chromosome 6, 42179248: 42179248
9 KCNV2 NM_133497.3(KCNV2): c.1083A> G (p.Gln361=) single nucleotide variant Conflicting interpretations of pathogenicity rs142744007 GRCh37 Chromosome 9, 2718822: 2718822
10 KCNV2 NM_133497.3(KCNV2): c.1083A> G (p.Gln361=) single nucleotide variant Conflicting interpretations of pathogenicity rs142744007 GRCh38 Chromosome 9, 2718822: 2718822
11 KCNV2 NM_133497.3(KCNV2): c.183C> G (p.Gly61=) single nucleotide variant Benign rs10967705 GRCh37 Chromosome 9, 2717922: 2717922
12 KCNV2 NM_133497.3(KCNV2): c.183C> G (p.Gly61=) single nucleotide variant Benign rs10967705 GRCh38 Chromosome 9, 2717922: 2717922
13 KCNV2 NM_133497.3(KCNV2): c.312T> C (p.Gly104=) single nucleotide variant Conflicting interpretations of pathogenicity rs150685794 GRCh37 Chromosome 9, 2718051: 2718051
14 KCNV2 NM_133497.3(KCNV2): c.312T> C (p.Gly104=) single nucleotide variant Conflicting interpretations of pathogenicity rs150685794 GRCh38 Chromosome 9, 2718051: 2718051
15 KCNV2 NM_133497.3(KCNV2): c.676G> A (p.Val226Ile) single nucleotide variant Benign/Likely benign rs74587818 GRCh37 Chromosome 9, 2718415: 2718415
16 KCNV2 NM_133497.3(KCNV2): c.676G> A (p.Val226Ile) single nucleotide variant Benign/Likely benign rs74587818 GRCh38 Chromosome 9, 2718415: 2718415
17 KCNV2 NM_133497.3(KCNV2): c.759A> G (p.Pro253=) single nucleotide variant Benign/Likely benign rs10967709 GRCh37 Chromosome 9, 2718498: 2718498
18 KCNV2 NM_133497.3(KCNV2): c.759A> G (p.Pro253=) single nucleotide variant Benign/Likely benign rs10967709 GRCh38 Chromosome 9, 2718498: 2718498
19 KCNV2 NM_133497.3(KCNV2): c.795C> G (p.Ala265=) single nucleotide variant Benign rs12237048 GRCh37 Chromosome 9, 2718534: 2718534
20 KCNV2 NM_133497.3(KCNV2): c.795C> G (p.Ala265=) single nucleotide variant Benign rs12237048 GRCh38 Chromosome 9, 2718534: 2718534
21 CACNA2D4 NM_172364.4(CACNA2D4): c.2921+7G> C single nucleotide variant Conflicting interpretations of pathogenicity rs202022529 GRCh37 Chromosome 12, 1909545: 1909545
22 CACNA2D4 NM_172364.4(CACNA2D4): c.2921+7G> C single nucleotide variant Conflicting interpretations of pathogenicity rs202022529 GRCh38 Chromosome 12, 1800379: 1800379
23 CACNA2D4 NM_172364.4(CACNA2D4): c.3310-8G> A single nucleotide variant Benign/Likely benign rs186998620 GRCh37 Chromosome 12, 1902933: 1902933
24 CACNA2D4 NM_172364.4(CACNA2D4): c.3310-8G> A single nucleotide variant Benign/Likely benign rs186998620 GRCh38 Chromosome 12, 1793767: 1793767
25 CACNA2D4 NM_172364.4(CACNA2D4): c.2065A> G (p.Ile689Val) single nucleotide variant Benign/Likely benign rs76224631 GRCh37 Chromosome 12, 1965265: 1965265
26 CACNA2D4 NM_172364.4(CACNA2D4): c.2065A> G (p.Ile689Val) single nucleotide variant Benign/Likely benign rs76224631 GRCh38 Chromosome 12, 1856099: 1856099
27 CACNA2D4 NM_172364.4(CACNA2D4): c.2517G> A (p.Ala839=) single nucleotide variant Benign rs33972365 GRCh37 Chromosome 12, 1949939: 1949939
28 CACNA2D4 NM_172364.4(CACNA2D4): c.2517G> A (p.Ala839=) single nucleotide variant Benign rs33972365 GRCh38 Chromosome 12, 1840773: 1840773
29 CACNA2D4 NM_172364.4(CACNA2D4): c.2187C> T (p.Asp729=) single nucleotide variant Benign/Likely benign rs78335326 GRCh37 Chromosome 12, 1963176: 1963176
30 CACNA2D4 NM_172364.4(CACNA2D4): c.2187C> T (p.Asp729=) single nucleotide variant Benign/Likely benign rs78335326 GRCh38 Chromosome 12, 1854010: 1854010
31 CACNA2D4 NM_172364.4(CACNA2D4): c.2046C> G (p.Ala682=) single nucleotide variant Benign/Likely benign rs116214586 GRCh37 Chromosome 12, 1965358: 1965358
32 CACNA2D4 NM_172364.4(CACNA2D4): c.2046C> G (p.Ala682=) single nucleotide variant Benign/Likely benign rs116214586 GRCh38 Chromosome 12, 1856192: 1856192
33 KCNV2 NM_133497.3(KCNV2): c.612G> A (p.Glu204=) single nucleotide variant Benign/Likely benign rs186159326 GRCh37 Chromosome 9, 2718351: 2718351
34 KCNV2 NM_133497.3(KCNV2): c.612G> A (p.Glu204=) single nucleotide variant Benign/Likely benign rs186159326 GRCh38 Chromosome 9, 2718351: 2718351
35 CACNA2D4 NM_172364.4(CACNA2D4): c.1359C> T (p.Tyr453=) single nucleotide variant Conflicting interpretations of pathogenicity rs573565912 GRCh37 Chromosome 12, 1992159: 1992159
36 CACNA2D4 NM_172364.4(CACNA2D4): c.1359C> T (p.Tyr453=) single nucleotide variant Conflicting interpretations of pathogenicity rs573565912 GRCh38 Chromosome 12, 1882993: 1882993
37 CACNA2D4 NM_172364.4(CACNA2D4): c.2189C> T (p.Ala730Val) single nucleotide variant Benign/Likely benign rs181994120 GRCh37 Chromosome 12, 1963174: 1963174
38 CACNA2D4 NM_172364.4(CACNA2D4): c.2189C> T (p.Ala730Val) single nucleotide variant Benign/Likely benign rs181994120 GRCh38 Chromosome 12, 1854008: 1854008
39 CACNA2D4 NM_172364.4(CACNA2D4): c.2649C> T (p.Cys883=) single nucleotide variant Conflicting interpretations of pathogenicity rs184770223 GRCh37 Chromosome 12, 1919718: 1919718
40 CACNA2D4 NM_172364.4(CACNA2D4): c.2649C> T (p.Cys883=) single nucleotide variant Conflicting interpretations of pathogenicity rs184770223 GRCh38 Chromosome 12, 1810552: 1810552
41 CACNA2D4 NM_172364.4(CACNA2D4): c.3065C> T (p.Pro1022Leu) single nucleotide variant Benign/Likely benign rs61741336 GRCh37 Chromosome 12, 1906632: 1906632
42 CACNA2D4 NM_172364.4(CACNA2D4): c.3065C> T (p.Pro1022Leu) single nucleotide variant Benign/Likely benign rs61741336 GRCh38 Chromosome 12, 1797466: 1797466
43 CACNA2D4 NM_172364.4(CACNA2D4): c.3330C> T (p.Gly1110=) single nucleotide variant Benign/Likely benign rs33912216 GRCh37 Chromosome 12, 1902905: 1902905
44 CACNA2D4 NM_172364.4(CACNA2D4): c.3330C> T (p.Gly1110=) single nucleotide variant Benign/Likely benign rs33912216 GRCh38 Chromosome 12, 1793739: 1793739
45 GUCA1A NM_000409.4(GUCA1A): c.320T> C (p.Ile107Thr) single nucleotide variant Pathogenic rs869320710 GRCh38 Chromosome 6, 42178398: 42178398
46 GUCA1A NM_000409.4(GUCA1A): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic rs869320709 GRCh37 Chromosome 6, 42146066: 42146066
47 GUCA1A NM_000409.4(GUCA1A): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic rs869320709 GRCh38 Chromosome 6, 42178328: 42178328
48 GUCA1A NM_000409.4(GUCA1A): c.320T> C (p.Ile107Thr) single nucleotide variant Pathogenic rs869320710 GRCh37 Chromosome 6, 42146136: 42146136
49 KCNV2 NM_133497.3(KCNV2): c.915G> A (p.Val305=) single nucleotide variant Benign/Likely benign rs7859993 GRCh37 Chromosome 9, 2718654: 2718654
50 KCNV2 NM_133497.3(KCNV2): c.915G> A (p.Val305=) single nucleotide variant Benign/Likely benign rs7859993 GRCh38 Chromosome 9, 2718654: 2718654

Expression for Cone Dystrophy 3

Search GEO for disease gene expression data for Cone Dystrophy 3.

Pathways for Cone Dystrophy 3

Pathways related to Cone Dystrophy 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.82 GUCA1A PDE6H

GO Terms for Cone Dystrophy 3

Biological processes related to Cone Dystrophy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 8.62 CACNA2D4 KCNV2

Sources for Cone Dystrophy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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