Aliases & Classifications for Cone Dystrophy 3

MalaCards integrated aliases for Cone Dystrophy 3:

Name: Cone Dystrophy 3 57 75 29 6 73
Cone Dystrophy-3 57 13
Cod3 57 75
Dystrophy, Cone, Type 3 ) 40
Retinal Cone Dystrophy 57
Cone-Rod Dystrophy 14 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cone dystrophy 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 602093
MedGen 42 C1865869
MeSH 44 D058499
UMLS 73 C1865869

Summaries for Cone Dystrophy 3

OMIM : 57 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 dystrophy-3, is related to retinal cone dystrophy 3a and cone dystrophy, 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. Related phenotypes are progressive visual loss and cone/cone-rod dystrophy

UniProtKB/Swiss-Prot : 75 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 related to Cone Dystrophy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinal cone dystrophy 3a 31.3 LOC105369670 PDE6H
2 cone dystrophy 30.3 CACNA2D4 GUCA1A KCNV2 PDE6H
3 retinal cone dystrophy 4 12.4
4 cone-rod dystrophy 2 10.0 GUCA1A KCNV2
5 achromatopsia 9.7 LOC105369670 PDE6H
6 fundus dystrophy 9.7 GUCA1A KCNV2

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



Diseases related to Cone Dystrophy 3

Symptoms & Phenotypes for Cone Dystrophy 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
progressive vision loss
decreased central vision
decreased color vision
photophobia
central scotomas
more

Clinical features from OMIM:

602093

Human phenotypes related to Cone Dystrophy 3:

32
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 32 HP:0000529
2 cone/cone-rod dystrophy 32 HP:0000548
3 photophobia 32 HP:0000613
4 macular atrophy 32 occasional (7.5%) HP:0007401
5 reduced visual acuity 32 HP:0007663

UMLS symptoms related to Cone Dystrophy 3:


photophobia

Drugs & Therapeutics for Cone Dystrophy 3

Search Clinical Trials , NIH Clinical Center for Cone Dystrophy 3

Genetic Tests for Cone Dystrophy 3

Genetic tests related to Cone Dystrophy 3:

# Genetic test Affiliating Genes
1 Cone Dystrophy 3 29 GUCA1A

Anatomical Context for Cone Dystrophy 3

Publications for Cone Dystrophy 3

Articles related to Cone Dystrophy 3:

# Title Authors Year
1
Previously apparently undescribed autosomal recessive MCA/MR syndrome with light fixation, retinal cone dystrophy, and seizures: the M syndrome. ( 9934988 )
1999
2
Chromosome 6q deletion and retinal cone dystrophy. ( 2012125 )
1991
3
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:

75
# 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 326)
# Gene Variation Type Significance SNP ID Assembly Location
1 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs104893967 GRCh37 Chromosome 6, 42146112: 42146112
2 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs104893967 GRCh38 Chromosome 6, 42178374: 42178374
3 GUCA1A NM_000409.4(GUCA1A): c.451C> T (p.Leu151Phe) single nucleotide variant Pathogenic rs121434631 GRCh37 Chromosome 6, 42146986: 42146986
4 GUCA1A NM_000409.4(GUCA1A): c.451C> T (p.Leu151Phe) single nucleotide variant Pathogenic rs121434631 GRCh38 Chromosome 6, 42179248: 42179248
5 CACNA2D4 NM_172364.4(CACNA2D4): c.2187C> T (p.Asp729=) single nucleotide variant Benign/Likely benign rs78335326 GRCh37 Chromosome 12, 1963176: 1963176
6 CACNA2D4 NM_172364.4(CACNA2D4): c.2187C> T (p.Asp729=) single nucleotide variant Benign/Likely benign rs78335326 GRCh38 Chromosome 12, 1854010: 1854010
7 CACNA2D4 NM_172364.4(CACNA2D4): c.2046C> G (p.Ala682=) single nucleotide variant Benign/Likely benign rs116214586 GRCh37 Chromosome 12, 1965358: 1965358
8 CACNA2D4 NM_172364.4(CACNA2D4): c.2046C> G (p.Ala682=) single nucleotide variant Benign/Likely benign rs116214586 GRCh38 Chromosome 12, 1856192: 1856192
9 KCNV2 NM_133497.3(KCNV2): c.612G> A (p.Glu204=) single nucleotide variant Benign/Likely benign rs186159326 GRCh37 Chromosome 9, 2718351: 2718351
10 KCNV2 NM_133497.3(KCNV2): c.612G> A (p.Glu204=) single nucleotide variant Benign/Likely benign rs186159326 GRCh38 Chromosome 9, 2718351: 2718351
11 CACNA2D4 NM_172364.4(CACNA2D4): c.1359C> T (p.Tyr453=) single nucleotide variant Conflicting interpretations of pathogenicity rs573565912 GRCh37 Chromosome 12, 1992159: 1992159
12 CACNA2D4 NM_172364.4(CACNA2D4): c.1359C> T (p.Tyr453=) single nucleotide variant Conflicting interpretations of pathogenicity rs573565912 GRCh38 Chromosome 12, 1882993: 1882993
13 CACNA2D4 NM_172364.4(CACNA2D4): c.2189C> T (p.Ala730Val) single nucleotide variant Benign/Likely benign rs181994120 GRCh37 Chromosome 12, 1963174: 1963174
14 CACNA2D4 NM_172364.4(CACNA2D4): c.2189C> T (p.Ala730Val) single nucleotide variant Benign/Likely benign rs181994120 GRCh38 Chromosome 12, 1854008: 1854008
15 CACNA2D4 NM_172364.4(CACNA2D4): c.2649C> T (p.Cys883=) single nucleotide variant Conflicting interpretations of pathogenicity rs184770223 GRCh37 Chromosome 12, 1919718: 1919718
16 CACNA2D4 NM_172364.4(CACNA2D4): c.2649C> T (p.Cys883=) single nucleotide variant Conflicting interpretations of pathogenicity rs184770223 GRCh38 Chromosome 12, 1810552: 1810552
17 CACNA2D4 NM_172364.4(CACNA2D4): c.3065C> T (p.Pro1022Leu) single nucleotide variant Benign/Likely benign rs61741336 GRCh37 Chromosome 12, 1906632: 1906632
18 CACNA2D4 NM_172364.4(CACNA2D4): c.3065C> T (p.Pro1022Leu) single nucleotide variant Benign/Likely benign rs61741336 GRCh38 Chromosome 12, 1797466: 1797466
19 CACNA2D4 NM_172364.4(CACNA2D4): c.3330C> T (p.Gly1110=) single nucleotide variant Benign/Likely benign rs33912216 GRCh37 Chromosome 12, 1902905: 1902905
20 CACNA2D4 NM_172364.4(CACNA2D4): c.3330C> T (p.Gly1110=) single nucleotide variant Benign/Likely benign rs33912216 GRCh38 Chromosome 12, 1793739: 1793739
21 GUCA1A NM_000409.4(GUCA1A): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic rs869320709 GRCh37 Chromosome 6, 42146066: 42146066
22 GUCA1A NM_000409.4(GUCA1A): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic rs869320709 GRCh38 Chromosome 6, 42178328: 42178328
23 GUCA1A NM_000409.4(GUCA1A): c.320T> C (p.Ile107Thr) single nucleotide variant Pathogenic rs869320710 GRCh37 Chromosome 6, 42146136: 42146136
24 GUCA1A NM_000409.4(GUCA1A): c.320T> C (p.Ile107Thr) single nucleotide variant Pathogenic rs869320710 GRCh38 Chromosome 6, 42178398: 42178398
25 KCNV2 NM_133497.3(KCNV2): c.915G> A (p.Val305=) single nucleotide variant Likely benign rs7859993 GRCh37 Chromosome 9, 2718654: 2718654
26 KCNV2 NM_133497.3(KCNV2): c.915G> A (p.Val305=) single nucleotide variant Likely benign rs7859993 GRCh38 Chromosome 9, 2718654: 2718654
27 KCNV2 NM_133497.3(KCNV2): c.978C> T (p.Asp326=) single nucleotide variant Likely benign rs7860945 GRCh38 Chromosome 9, 2718717: 2718717
28 KCNV2 NM_133497.3(KCNV2): c.978C> T (p.Asp326=) single nucleotide variant Likely benign rs7860945 GRCh37 Chromosome 9, 2718717: 2718717
29 KCNV2 NM_133497.3(KCNV2): c.1386C> T (p.Asp462=) single nucleotide variant Likely benign rs41312842 GRCh37 Chromosome 9, 2729475: 2729475
30 KCNV2 NM_133497.3(KCNV2): c.1386C> T (p.Asp462=) single nucleotide variant Likely benign rs41312842 GRCh38 Chromosome 9, 2729475: 2729475
31 KCNV2 NM_133497.3(KCNV2): c.1597C> G (p.Leu533Val) single nucleotide variant Benign rs12352254 GRCh38 Chromosome 9, 2729686: 2729686
32 KCNV2 NM_133497.3(KCNV2): c.1597C> G (p.Leu533Val) single nucleotide variant Benign rs12352254 GRCh37 Chromosome 9, 2729686: 2729686
33 KCNV2 NM_133497.3(KCNV2): c.*6T> C single nucleotide variant Likely benign rs41306094 GRCh38 Chromosome 9, 2729733: 2729733
34 KCNV2 NM_133497.3(KCNV2): c.*6T> C single nucleotide variant Likely benign rs41306094 GRCh37 Chromosome 9, 2729733: 2729733
35 CACNA2D4 NM_172364.4(CACNA2D4): c.3310-4G> A single nucleotide variant Likely benign rs80092457 GRCh37 Chromosome 12, 1902929: 1902929
36 CACNA2D4 NM_172364.4(CACNA2D4): c.3310-4G> A single nucleotide variant Likely benign rs80092457 GRCh38 Chromosome 12, 1793763: 1793763
37 CACNA2D4 NM_172364.4(CACNA2D4): c.2793-15G> A single nucleotide variant Uncertain significance rs147575839 GRCh38 Chromosome 12, 1801133: 1801133
38 CACNA2D4 NM_172364.4(CACNA2D4): c.2793-15G> A single nucleotide variant Uncertain significance rs147575839 GRCh37 Chromosome 12, 1910299: 1910299
39 CACNA2D4 NM_172364.4(CACNA2D4): c.2746G> A (p.Asp916Asn) single nucleotide variant Likely benign rs62621429 GRCh37 Chromosome 12, 1910786: 1910786
40 CACNA2D4 NM_172364.4(CACNA2D4): c.2746G> A (p.Asp916Asn) single nucleotide variant Likely benign rs62621429 GRCh38 Chromosome 12, 1801620: 1801620
41 CACNA2D4 NM_172364.4(CACNA2D4): c.2316C> T (p.Phe772=) single nucleotide variant Benign rs11836202 GRCh38 Chromosome 12, 1846620: 1846620
42 CACNA2D4 NM_172364.4(CACNA2D4): c.2316C> T (p.Phe772=) single nucleotide variant Benign rs11836202 GRCh37 Chromosome 12, 1955786: 1955786
43 CACNA2D4 NM_172364.4(CACNA2D4): c.2087A> G (p.His696Arg) single nucleotide variant Likely benign rs115228472 GRCh37 Chromosome 12, 1965243: 1965243
44 CACNA2D4 NM_172364.4(CACNA2D4): c.2087A> G (p.His696Arg) single nucleotide variant Likely benign rs115228472 GRCh38 Chromosome 12, 1856077: 1856077
45 CACNA2D4 NM_172364.4(CACNA2D4): c.2035C> T (p.Leu679=) single nucleotide variant Benign rs2286372 GRCh38 Chromosome 12, 1856203: 1856203
46 CACNA2D4 NM_172364.4(CACNA2D4): c.2035C> T (p.Leu679=) single nucleotide variant Benign rs2286372 GRCh37 Chromosome 12, 1965369: 1965369
47 CACNA2D4 NM_172364.4(CACNA2D4): c.1866G> A (p.Pro622=) single nucleotide variant Likely benign rs758160 GRCh38 Chromosome 12, 1874616: 1874616
48 CACNA2D4 NM_172364.4(CACNA2D4): c.1866G> A (p.Pro622=) single nucleotide variant Likely benign rs758160 GRCh37 Chromosome 12, 1983782: 1983782
49 CACNA2D4 NM_172364.4(CACNA2D4): c.1599A> G (p.Ser533=) single nucleotide variant Benign rs7966806 GRCh37 Chromosome 12, 1988167: 1988167
50 CACNA2D4 NM_172364.4(CACNA2D4): c.1599A> G (p.Ser533=) single nucleotide variant Benign rs7966806 GRCh38 Chromosome 12, 1879001: 1879001

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 visual perception GO:0007601 8.96 GUCA1A PDE6H
2 regulation of ion transmembrane transport GO:0034765 8.62 CACNA2D4 KCNV2

Sources for Cone Dystrophy 3

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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