COD3
MCID: CND011
MIFTS: 38

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 56 73 29 6 43 71
Cone-Rod Dystrophy 14 56 12
Cone Dystrophy-3 56 13
Cod3 56 73
Dystrophy, Cone, Type 3 39
Retinal Cone Dystrophy 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cone dystrophy 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080314
OMIM 56 602093
OMIM Phenotypic Series 56 PS120970
MedGen 41 C1865869
UMLS 71 C1838190 C1865869 C2677463

Summaries for Cone Dystrophy 3

OMIM : 56 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 cone-rod dystrophy 6 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. Affiliated tissues include eye and retina, 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 : 73 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

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:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 macular atrophy 31 occasional (7.5%) HP:0007401
2 photophobia 31 HP:0000613
3 progressive visual loss 31 HP:0000529
4 reduced visual acuity 31 HP:0007663
5 cone/cone-rod dystrophy 31 HP:0000548

Symptoms via clinical synopsis from OMIM:

56
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 29 GUCA1A

Anatomical Context for Cone Dystrophy 3

MalaCards organs/tissues related to Cone Dystrophy 3:

40
Eye, Retina

Publications for Cone Dystrophy 3

Articles related to Cone Dystrophy 3:

(showing 18, show less)
# Title Authors PMID Year
1
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. 56 6
28125083 2017
2
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. 56 6
24024198 2013
3
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. 56 6
15953638 2005
4
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 56 6
15790869 2005
5
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). 56 6
15735604 2005
6
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 56 6
9425234 1998
7
Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase. 6
26358777 2015
8
Cone rod dystrophies. 6
17270046 2007
9
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. 56
16644365 2006
10
Local cone and rod system function in progressive cone dystrophy. 56
12091439 2002
11
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. 6
11146732 2001
12
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
13
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. 6
9702199 1998
14
Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration. 6
9651312 1998
15
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. 61
21464903 2011
16
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. 61
11484154 2001
17
Analysis of peripherin/RDS gene for Japanese retinal dystrophies. 61
9690896 1998
18
Simultaneous foveal and parafoveal electroretinograms in hereditary degeneration of the central retina. 61
2791851 1989

Variations for Cone Dystrophy 3

ClinVar genetic disease variations for Cone Dystrophy 3:

6 (showing 175, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GUCA1A NM_000409.4(GUCA1A):c.250C>T (p.Leu84Phe)SNV Pathogenic 225232 rs869320709 6:42146066-42146066 6:42178328-42178328
2 GUCA1A NM_000409.4(GUCA1A):c.320T>C (p.Ile107Thr)SNV Pathogenic 225233 rs869320710 6:42146136-42146136 6:42178398-42178398
3 GUCA1A NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys)SNV Pathogenic 9150 rs104893967 6:42146112-42146112 6:42178374-42178374
4 GUCA1A NM_000409.4(GUCA1A):c.451C>T (p.Leu151Phe)SNV Pathogenic 9152 rs121434631 6:42146986-42146986 6:42179248-42179248
5 GUCA1A NM_000409.4(GUCA1A):c.359_360delinsTT (p.Arg120Leu)indel Pathogenic 453246 rs1554186441 6:42146547-42146548 6:42178809-42178810
6 GUCA1A NM_000409.5(GUCA1A):c.359G>T (p.Arg120Leu)SNV Pathogenic 802212 6:42146547-42146547 6:42178809-42178809
7 CACNA2D4 NM_172364.5(CACNA2D4):c.3348A>T (p.Ser1116=)SNV Conflicting interpretations of pathogenicity 307832 rs368886623 12:1902887-1902887 12:1793721-1793721
8 CACNA2D4 NM_172364.5(CACNA2D4):c.2588G>A (p.Arg863His)SNV Conflicting interpretations of pathogenicity 307845 rs36077411 12:1920853-1920853 12:1811687-1811687
9 CACNA2D4 NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His)SNV Conflicting interpretations of pathogenicity 307853 rs76064926 12:1965210-1965210 12:1856044-1856044
10 KCNV2 NM_133497.4(KCNV2):c.1083A>G (p.Gln361=)SNV Conflicting interpretations of pathogenicity 96356 rs142744007 9:2718822-2718822 9:2718822-2718822
11 CACNA2D4 NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=)SNV Conflicting interpretations of pathogenicity 196146 rs184770223 12:1919718-1919718 12:1810552-1810552
12 KCNV2 NM_133497.4(KCNV2):c.312T>C (p.Gly104=)SNV Conflicting interpretations of pathogenicity 96359 rs150685794 9:2718051-2718051 9:2718051-2718051
13 GUCA1A NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu)SNV Conflicting interpretations of pathogenicity 9151 rs104893968 6:42141500-42141500 6:42173762-42173762
14 CACNA2D4 NM_172364.5(CACNA2D4):c.1359C>T (p.Tyr453=)SNV Conflicting interpretations of pathogenicity 194285 rs573565912 12:1992159-1992159 12:1882993-1882993
15 CACNA2D4 NM_172364.5(CACNA2D4):c.2921+7G>CSNV Conflicting interpretations of pathogenicity 96534 rs202022529 12:1909545-1909545 12:1800379-1800379
16 KCNV2 NM_133497.4(KCNV2):c.80G>A (p.Arg27His)SNV Conflicting interpretations of pathogenicity 143162 rs145731729 9:2717819-2717819 9:2717819-2717819
17 CACNA2D4 NM_172364.5(CACNA2D4):c.2793-15G>ASNV Conflicting interpretations of pathogenicity 262817 rs147575839 12:1910299-1910299 12:1801133-1801133
18 CACNA2D4 NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=)SNV Conflicting interpretations of pathogenicity 288899 rs201783863 12:1993967-1993967 12:1884801-1884801
19 KCNV2 NM_133497.4(KCNV2):c.1063T>C (p.Phe355Leu)SNV Conflicting interpretations of pathogenicity 366419 rs75645675 9:2718802-2718802 9:2718802-2718802
20 CACNA2D4 NM_172364.5(CACNA2D4):c.2523C>T (p.Thr841=)SNV Conflicting interpretations of pathogenicity 307847 rs377756881 12:1949933-1949933 12:1840767-1840767
21 CACNA2D4 NM_172364.5(CACNA2D4):c.318G>A (p.Lys106=)SNV Conflicting interpretations of pathogenicity 307870 rs528334716 12:2022297-2022297 12:1913131-1913131
22 CACNA2D4 NM_172364.5(CACNA2D4):c.139G>A (p.Val47Met)SNV Conflicting interpretations of pathogenicity 307873 rs74606734 12:2027501-2027501 12:1918335-1918335
23 CACNA2D4 NM_172364.5(CACNA2D4):c.2606C>T (p.Thr869Met)SNV Conflicting interpretations of pathogenicity 307844 rs35331095 12:1920835-1920835 12:1811669-1811669
24 CACNA2D4 NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu)SNV Conflicting interpretations of pathogenicity 307830 rs145150489 12:1902879-1902879 12:1793713-1793713
25 CACNA2D4 NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe)SNV Conflicting interpretations of pathogenicity 307854 rs151121191 12:1965235-1965235 12:1856069-1856069
26 CACNA2D4 NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=)SNV Uncertain significance 307855 rs116214586 12:1965358-1965358 12:1856192-1856192
27 CACNA2D4 NM_172364.5(CACNA2D4):c.1926C>T (p.Ser642=)SNV Uncertain significance 307856 rs773736333 12:1969325-1969325 12:1860159-1860159
28 CACNA2D4 NM_172364.5(CACNA2D4):c.1272+14G>ASNV Uncertain significance 307863 rs559637881 12:1993920-1993920 12:1884754-1884754
29 CACNA2D4 NM_172364.5(CACNA2D4):c.718A>G (p.Arg240Gly)SNV Uncertain significance 307867 rs886049130 12:2016669-2016669 12:1907503-1907503
30 CACNA2D4 NM_172364.5(CACNA2D4):c.593T>A (p.Leu198Gln)SNV Uncertain significance 307869 rs200563551 12:2017097-2017097 12:1907931-1907931
31 CACNA2D4 NM_172364.5(CACNA2D4):c.2913G>C (p.Glu971Asp)SNV Uncertain significance 307838 rs886049123 12:1909560-1909560 12:1800394-1800394
32 CACNA2D4 NM_172364.5(CACNA2D4):c.2714C>T (p.Ser905Phe)SNV Uncertain significance 307842 rs372942250 12:1919451-1919451 12:1810285-1810285
33 CACNA2D4 NM_172364.5(CACNA2D4):c.2688C>T (p.Asn896=)SNV Uncertain significance 307843 rs755996321 12:1919477-1919477 12:1810311-1810311
34 CACNA2D4 NM_172364.5(CACNA2D4):c.*1364T>CSNV Uncertain significance 307804 rs886049115 12:1901457-1901457 12:1792291-1792291
35 CACNA2D4 NM_172364.5(CACNA2D4):c.*1271C>TSNV Uncertain significance 307809 rs562507767 12:1901550-1901550 12:1792384-1792384
36 CACNA2D4 NM_172364.5(CACNA2D4):c.*1200C>TSNV Uncertain significance 307812 rs527521690 12:1901621-1901621 12:1792455-1792455
37 CACNA2D4 NM_172364.5(CACNA2D4):c.*1177G>ASNV Uncertain significance 307813 rs556623869 12:1901644-1901644 12:1792478-1792478
38 CACNA2D4 NM_172364.5(CACNA2D4):c.*954G>CSNV Uncertain significance 307816 rs886049116 12:1901867-1901867 12:1792701-1792701
39 CACNA2D4 NM_172364.5(CACNA2D4):c.*789A>GSNV Uncertain significance 307817 rs886049117 12:1902032-1902032 12:1792866-1792866
40 CACNA2D4 NM_172364.5(CACNA2D4):c.*513G>ASNV Uncertain significance 307821 rs886049119 12:1902308-1902308 12:1793142-1793142
41 CACNA2D4 NM_172364.5(CACNA2D4):c.2524G>A (p.Val842Met)SNV Uncertain significance 307846 rs200977656 12:1949932-1949932 12:1840766-1840766
42 CACNA2D4 NM_172364.5(CACNA2D4):c.2373C>T (p.Ser791=)SNV Uncertain significance 307849 rs886049127 12:1953665-1953665 12:1844499-1844499
43 CACNA2D4 NM_172364.5(CACNA2D4):c.2246+11G>ASNV Uncertain significance 307850 rs779480579 12:1963106-1963106 12:1853940-1853940
44 CACNA2D4 NM_172364.5(CACNA2D4):c.1711C>T (p.Arg571Trp)SNV Uncertain significance 307857 rs376257275 12:1987489-1987489 12:1878323-1878323
45 CACNA2D4 NM_172364.5(CACNA2D4):c.1239G>T (p.Pro413=)SNV Uncertain significance 307864 rs201783863 12:1993967-1993967 12:1884801-1884801
46 CACNA2D4 NM_172364.5(CACNA2D4):c.*425G>ASNV Uncertain significance 307824 rs886049120 12:1902396-1902396 12:1793230-1793230
47 CACNA2D4 NM_172364.5(CACNA2D4):c.3206A>T (p.Gln1069Leu)SNV Uncertain significance 307835 rs886049122 12:1904854-1904854 12:1795688-1795688
48 CACNA2D4 NM_172364.5(CACNA2D4):c.3038C>T (p.Thr1013Met)SNV Uncertain significance 307836 rs757844766 12:1906659-1906659 12:1797493-1797493
49 CACNA2D4 NM_172364.5(CACNA2D4):c.2922-9G>ASNV Uncertain significance 307837 rs756341043 12:1909227-1909227 12:1800061-1800061
50 CACNA2D4 NM_172364.5(CACNA2D4):c.2870C>T (p.Pro957Leu)SNV Uncertain significance 307839 rs886049124 12:1909603-1909603 12:1800437-1800437
51 CACNA2D4 NM_172364.5(CACNA2D4):c.837C>T (p.Arg279=)SNV Uncertain significance 307866 rs545533620 12:1996180-1996180 12:1887014-1887014
52 CACNA2D4 NM_172364.5(CACNA2D4):c.684A>C (p.Glu228Asp)SNV Uncertain significance 307868 rs886049131 12:2016703-2016703 12:1907537-1907537
53 CACNA2D4 NM_172364.5(CACNA2D4):c.-54G>ASNV Uncertain significance 307874 rs184264198 12:2027693-2027693 12:1918527-1918527
54 CACNA2D4 NM_172364.5(CACNA2D4):c.-151G>TSNV Uncertain significance 307878 rs749175092 12:2027790-2027790 12:1918624-1918624
55 PDE6H NM_006205.3(PDE6H):c.*71C>TSNV Uncertain significance 307784 rs144778897 12:15134481-15134481 12:14981547-14981547
56 CACNA2D4 NM_172364.5(CACNA2D4):c.*1596G>ASNV Uncertain significance 307797 rs114262354 12:1901225-1901225 12:1792059-1792059
57 CACNA2D4 NM_172364.5(CACNA2D4):c.-174C>TSNV Uncertain significance 307879 rs374494829 12:2027813-2027813 12:1918647-1918647
58 KCNV2 NM_133497.4(KCNV2):c.-204A>CSNV Uncertain significance 366397 rs886063816 9:2717536-2717536 9:2717536-2717536
59 CACNA2D4 NM_172364.5(CACNA2D4):c.255C>T (p.Gly85=)SNV Uncertain significance 307871 rs375466678 12:2024074-2024074 12:1914908-1914908
60 CACNA2D4 NM_172364.5(CACNA2D4):c.227+11C>TSNV Uncertain significance 307872 rs75470223 12:2027402-2027402 12:1918236-1918236
61 CACNA2D4 NM_172364.5(CACNA2D4):c.2189C>G (p.Ala730Gly)SNV Uncertain significance 307851 rs181994120 12:1963174-1963174 12:1854008-1854008
62 CACNA2D4 NM_172364.5(CACNA2D4):c.1683T>C (p.Asn561=)SNV Uncertain significance 307858 rs886049129 12:1987517-1987517 12:1878351-1878351
63 CACNA2D4 NM_172364.5(CACNA2D4):c.1563G>A (p.Thr521=)SNV Uncertain significance 307859 rs11062013 12:1988970-1988970 12:1879804-1879804
64 CACNA2D4 NM_172364.5(CACNA2D4):c.1497G>A (p.Ser499=)SNV Uncertain significance 307861 rs181731184 12:1989036-1989036 12:1879870-1879870
65 CACNA2D4 NM_172364.5(CACNA2D4):c.1288T>C (p.Tyr430His)SNV Uncertain significance 307862 rs369528514 12:1993472-1993472 12:1884306-1884306
66 CACNA2D4 NM_172364.5(CACNA2D4):c.*73G>CSNV Uncertain significance 307827 rs549574707 12:1902748-1902748 12:1793582-1793582
67 CACNA2D4 NM_172364.5(CACNA2D4):c.3357G>A (p.Pro1119=)SNV Uncertain significance 307829 rs761902357 12:1902878-1902878 12:1793712-1793712
68 CACNA2D4 NM_172364.5(CACNA2D4):c.3354G>A (p.Ser1118=)SNV Uncertain significance 307831 rs374485519 12:1902881-1902881 12:1793715-1793715
69 CACNA2D4 NM_172364.5(CACNA2D4):c.3339G>A (p.Ser1113=)SNV Uncertain significance 307833 rs371916321 12:1902896-1902896 12:1793730-1793730
70 CACNA2D4 NM_172364.5(CACNA2D4):c.3309+6G>ASNV Uncertain significance 307834 rs778274349 12:1904459-1904459 12:1795293-1795293
71 KCNV2 NM_133497.4(KCNV2):c.97C>T (p.Leu33=)SNV Uncertain significance 366408 rs886063819 9:2717836-2717836 9:2717836-2717836
72 KCNV2 NM_133497.4(KCNV2):c.225C>T (p.Asp75=)SNV Uncertain significance 366412 rs532418456 9:2717964-2717964 9:2717964-2717964
73 KCNV2 NM_133497.4(KCNV2):c.-15C>TSNV Uncertain significance 366406 rs181712064 9:2717725-2717725 9:2717725-2717725
74 KCNV2 NM_133497.4(KCNV2):c.-6G>ASNV Uncertain significance 366407 rs373371383 9:2717734-2717734 9:2717734-2717734
75 KCNV2 NM_133497.4(KCNV2):c.245C>T (p.Thr82Ile)SNV Uncertain significance 366413 rs370044423 9:2717984-2717984 9:2717984-2717984
76 KCNV2 NM_133497.4(KCNV2):c.1109G>C (p.Gly370Ala)SNV Uncertain significance 366420 rs534563578 9:2718848-2718848 9:2718848-2718848
77 CACNA2D4 NM_172364.5(CACNA2D4):c.*1621G>CSNV Uncertain significance 307793 rs886049111 12:1901200-1901200 12:1792034-1792034
78 CACNA2D4 NM_172364.5(CACNA2D4):c.*1613T>CSNV Uncertain significance 307795 rs767458623 12:1901208-1901208 12:1792042-1792042
79 CACNA2D4 NM_172364.5(CACNA2D4):c.*1403C>GSNV Uncertain significance 307802 rs148710446 12:1901418-1901418 12:1792252-1792252
80 CACNA2D4 NM_172364.5(CACNA2D4):c.*1334A>GSNV Uncertain significance 307807 rs574025393 12:1901487-1901487 12:1792321-1792321
81 PDE6H NM_006205.3(PDE6H):c.*369A>GSNV Uncertain significance 307790 rs571862339 12:15134779-15134779 12:14981845-14981845
82 CACNA2D4 NM_172364.5(CACNA2D4):c.*783A>GSNV Uncertain significance 307818 rs886049118 12:1902038-1902038 12:1792872-1792872
83 KCNV2 NM_133497.4(KCNV2):c.1144A>T (p.Met382Leu)SNV Uncertain significance 366421 rs757516625 9:2718883-2718883 9:2718883-2718883
84 KCNV2 NM_133497.4(KCNV2):c.*90A>GSNV Uncertain significance 366480 rs886063832 9:2729817-2729817 9:2729817-2729817
85 CACNA2D4 NM_172364.5(CACNA2D4):c.2054+4A>TSNV Uncertain significance 290737 rs200648405 12:1965346-1965346 12:1856180-1856180
86 CACNA2D4 NM_172364.5(CACNA2D4):c.1968C>T (p.His656=)SNV Uncertain significance 290740 rs200706568 12:1967783-1967783 12:1858617-1858617
87 KCNV2 NM_133497.4(KCNV2):c.-161G>ASNV Uncertain significance 366399 rs886063818 9:2717579-2717579 9:2717579-2717579
88 KCNV2 NM_133497.4(KCNV2):c.-145T>CSNV Uncertain significance 366400 rs528809457 9:2717595-2717595 9:2717595-2717595
89 KCNV2 NM_133497.4(KCNV2):c.-111C>TSNV Uncertain significance 366401 rs188986938 9:2717629-2717629 9:2717629-2717629
90 KCNV2 NM_133497.4(KCNV2):c.-36C>TSNV Uncertain significance 366404 rs369580579 9:2717704-2717704 9:2717704-2717704
91 KCNV2 NM_133497.4(KCNV2):c.-19G>CSNV Uncertain significance 366405 rs775888664 9:2717721-2717721 9:2717721-2717721
92 KCNV2 NM_133497.4(KCNV2):c.121G>A (p.Ala41Thr)SNV Uncertain significance 366409 rs148031263 9:2717860-2717860 9:2717860-2717860
93 KCNV2 NM_133497.4(KCNV2):c.882C>T (p.Gly294=)SNV Uncertain significance 366417 rs750779235 9:2718621-2718621 9:2718621-2718621
94 KCNV2 NM_133497.4(KCNV2):c.132C>T (p.His44=)SNV Uncertain significance 366410 rs767774622 9:2717871-2717871 9:2717871-2717871
95 KCNV2 NM_133497.4(KCNV2):c.145G>A (p.Gly49Ser)SNV Uncertain significance 366411 rs777604507 9:2717884-2717884 9:2717884-2717884
96 KCNV2 NM_133497.4(KCNV2):c.1148G>T (p.Arg383Leu)SNV Uncertain significance 366422 rs141881396 9:2718887-2718887 9:2718887-2718887
97 KCNV2 NM_133497.4(KCNV2):c.-180G>ASNV Uncertain significance 366398 rs886063817 9:2717560-2717560 9:2717560-2717560
98 PDE6H NM_006205.2(PDE6H):c.-102G>TSNV Uncertain significance 307779 rs533569725 12:15125960-15125960 12:14973026-14973026
99 PDE6H NM_006205.3(PDE6H):c.*77C>GSNV Uncertain significance 307785 rs886049109 12:15134487-15134487 12:14981553-14981553
100 PDE6H NM_006205.3(PDE6H):c.*134G>ASNV Uncertain significance 307786 rs886049110 12:15134544-15134544 12:14981610-14981610
101 PDE6H NM_006205.3(PDE6H):c.*358T>GSNV Uncertain significance 307789 rs558075003 12:15134768-15134768 12:14981834-14981834
102 CACNA2D4 NM_172364.5(CACNA2D4):c.*1632G>ASNV Uncertain significance 307791 rs867293238 12:1901189-1901189 12:1792023-1792023
103 CACNA2D4 NM_172364.5(CACNA2D4):c.*1217C>GSNV Uncertain significance 307810 rs151263240 12:1901604-1901604 12:1792438-1792438
104 CACNA2D4 NM_172364.5(CACNA2D4):c.*1114G>ASNV Uncertain significance 307814 rs567383410 12:1901707-1901707 12:1792541-1792541
105 CACNA2D4 NM_172364.5(CACNA2D4):c.*583G>CSNV Uncertain significance 307820 rs185774215 12:1902238-1902238 12:1793072-1793072
106 CACNA2D4 NM_172364.5(CACNA2D4):c.*112C>TSNV Uncertain significance 307826 rs886049121 12:1902709-1902709 12:1793543-1793543
107 CACNA2D4 NM_172364.5(CACNA2D4):c.-141C>ASNV Uncertain significance 307877 rs886049132 12:2027780-2027780 12:1918614-1918614
108 CACNA2D4 NM_172364.5(CACNA2D4):c.2470+11G>ASNV Uncertain significance 307848 rs886049126 12:1953557-1953557 12:1844391-1844391
109 CACNA2D4 NM_172364.5(CACNA2D4):c.2184T>A (p.Phe728Leu)SNV Uncertain significance 307852 rs886049128 12:1963179-1963179 12:1854013-1854013
110 CACNA2D4 NM_172364.5(CACNA2D4):c.2868+4_2868+7deldeletion Uncertain significance 307840 rs760300917 12:1910202-1910205 12:1801036-1801039
111 CACNA2D4 NM_172364.5(CACNA2D4):c.2783T>A (p.Val928Glu)SNV Uncertain significance 307841 rs886049125 12:1910749-1910749 12:1801583-1801583
112 PDE6H NM_006205.3(PDE6H):c.*47G>CSNV Uncertain significance 307783 rs886049108 12:15134457-15134457 12:14981523-14981523
113 CACNA2D4 NM_172364.5(CACNA2D4):c.*1615G>CSNV Uncertain significance 307794 rs886049112 12:1901206-1901206 12:1792040-1792040
114 CACNA2D4 NM_172364.5(CACNA2D4):c.*1597G>CSNV Uncertain significance 307796 rs115232565 12:1901224-1901224 12:1792058-1792058
115 CACNA2D4 NM_172364.5(CACNA2D4):c.*1572G>CSNV Uncertain significance 307798 rs886049113 12:1901249-1901249 12:1792083-1792083
116 CACNA2D4 NM_172364.5(CACNA2D4):c.*1488C>TSNV Uncertain significance 307800 rs886049114 12:1901333-1901333 12:1792167-1792167
117 CACNA2D4 NM_172364.5(CACNA2D4):c.*123A>GSNV Uncertain significance 307825 rs188926382 12:1902698-1902698 12:1793532-1793532
118 CACNA2D4 NM_172364.5(CACNA2D4):c.*1360G>ASNV Likely benign 307805 rs2041139 12:1901461-1901461 12:1792295-1792295
119 CACNA2D4 NM_172364.5(CACNA2D4):c.*463G>ASNV Likely benign 307823 rs73041888 12:1902358-1902358 12:1793192-1793192
120 CACNA2D4 NM_172364.5(CACNA2D4):c.*1275T>GSNV Likely benign 307808 rs12811035 12:1901546-1901546 12:1792380-1792380
121 KCNV2 NM_133497.4(KCNV2):c.*170A>GSNV Likely benign 366481 rs10967769 9:2729897-2729897 9:2729897-2729897
122 KCNV2 NM_133497.4(KCNV2):c.*308T>GSNV Likely benign 366483 rs60723920 9:2730035-2730035 9:2730035-2730035
123 CACNA2D4 NM_172364.5(CACNA2D4):c.*1624G>CSNV Likely benign 307792 rs59734486 12:1901197-1901197 12:1792031-1792031
124 CACNA2D4 NM_172364.5(CACNA2D4):c.*1078deldeletion Likely benign 307815 rs3214264 12:1901743-1901743 12:1792577-1792577
125 KCNV2 NM_133497.4(KCNV2):c.*262T>ASNV Likely benign 366482 rs57109373 9:2729989-2729989 9:2729989-2729989
126 PDE6H NM_006205.3(PDE6H):c.*319T>CSNV Likely benign 307788 rs3748304 12:15134729-15134729 12:14981795-14981795
127 PDE6H NM_006205.3(PDE6H):c.-29G>CSNV Likely benign 307781 rs114575851 12:15130918-15130918 12:14977984-14977984
128 CACNA2D4 NM_172364.5(CACNA2D4):c.-91G>ASNV Likely benign 307876 rs76066543 12:2027730-2027730 12:1918564-1918564
129 CACNA2D4 NM_172364.5(CACNA2D4):c.*1557A>CSNV Likely benign 307799 rs58494350 12:1901264-1901264 12:1792098-1792098
130 PDE6H NM_006205.3(PDE6H):c.*301A>GSNV Likely benign 307787 rs77796036 12:15134711-15134711 12:14981777-14981777
131 CACNA2D4 NM_172364.5(CACNA2D4):c.1068+12C>TSNV Likely benign 307865 rs77282921 12:1995119-1995119 12:1885953-1885953
132 CACNA2D4 NM_172364.5(CACNA2D4):c.*467A>GSNV Likely benign 307822 rs73041886 12:1902354-1902354 12:1793188-1793188
133 CACNA2D4 NM_172364.5(CACNA2D4):c.-72C>TSNV Likely benign 307875 rs73595529 12:2027711-2027711 12:1918545-1918545
134 KCNV2 NM_133497.4(KCNV2):c.1616T>C (p.Leu539Pro)SNV Benign/Likely benign 366479 rs112673841 9:2729705-2729705 9:2729705-2729705
135 CACNA2D4 NM_172364.5(CACNA2D4):c.1068+13G>ASNV Benign/Likely benign 262808 rs61386831 12:1995118-1995118 12:1885952-1885952
136 CACNA2D4 NM_172364.5(CACNA2D4):c.487-4C>TSNV Benign/Likely benign 262819 rs60194757 12:2017207-2017207 12:1908041-1908041
137 CACNA2D4 NM_172364.5(CACNA2D4):c.237A>G (p.Leu79=)SNV Benign/Likely benign 262815 rs73038195 12:2024092-2024092 12:1914926-1914926
138 CACNA2D4 NM_172364.5(CACNA2D4):c.2746G>A (p.Asp916Asn)SNV Benign/Likely benign 262816 rs62621429 12:1910786-1910786 12:1801620-1801620
139 KCNV2 NM_133497.4(KCNV2):c.*6T>CSNV Benign/Likely benign 262358 rs41306094 9:2729733-2729733 9:2729733-2729733
140 CACNA2D4 NM_172364.5(CACNA2D4):c.3310-4G>ASNV Benign/Likely benign 262818 rs80092457 12:1902929-1902929 12:1793763-1793763
141 CACNA2D4 NM_172364.5(CACNA2D4):c.2087A>G (p.His696Arg)SNV Benign/Likely benign 262813 rs115228472 12:1965243-1965243 12:1856077-1856077
142 CACNA2D4 NM_172364.5(CACNA2D4):c.1866G>A (p.Pro622=)SNV Benign/Likely benign 262811 rs758160 12:1983782-1983782 12:1874616-1874616
143 KCNV2 NM_133497.4(KCNV2):c.915G>A (p.Val305=)SNV Benign/Likely benign 262363 rs7859993 9:2718654-2718654 9:2718654-2718654
144 KCNV2 NM_133497.4(KCNV2):c.978C>T (p.Asp326=)SNV Benign/Likely benign 262364 rs7860945 9:2718717-2718717 9:2718717-2718717
145 KCNV2 NM_133497.4(KCNV2):c.1386C>T (p.Asp462=)SNV Benign/Likely benign 262359 rs41312842 9:2729475-2729475 9:2729475-2729475
146 CACNA2D4 NM_172364.5(CACNA2D4):c.3310-8G>ASNV Benign/Likely benign 96536 rs186998620 12:1902933-1902933 12:1793767-1793767
147 CACNA2D4 NM_172364.5(CACNA2D4):c.2065A>G (p.Ile689Val)SNV Benign/Likely benign 100606 rs76224631 12:1965265-1965265 12:1856099-1856099
148 CACNA2D4 NM_172364.5(CACNA2D4):c.2189C>T (p.Ala730Val)SNV Benign/Likely benign 195785 rs181994120 12:1963174-1963174 12:1854008-1854008
149 CACNA2D4 NM_172364.5(CACNA2D4):c.2187C>T (p.Asp729=)SNV Benign/Likely benign 166782 rs78335326 12:1963176-1963176 12:1854010-1854010
150 CACNA2D4 NM_172364.5(CACNA2D4):c.2046C>G (p.Ala682=)SNV Benign/Likely benign 166783 rs116214586 12:1965358-1965358 12:1856192-1856192
151 KCNV2 NM_133497.4(KCNV2):c.612G>A (p.Glu204=)SNV Benign/Likely benign 167209 rs186159326 9:2718351-2718351 9:2718351-2718351
152 KCNV2 NM_133497.4(KCNV2):c.676G>A (p.Val226Ile)SNV Benign/Likely benign 96360 rs74587818 9:2718415-2718415 9:2718415-2718415
153 KCNV2 NM_133497.4(KCNV2):c.759A>G (p.Pro253=)SNV Benign/Likely benign 96361 rs10967709 9:2718498-2718498 9:2718498-2718498
154 CACNA2D4 NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu)SNV Benign/Likely benign 196962 rs61741336 12:1906632-1906632 12:1797466-1797466
155 CACNA2D4 NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=)SNV Benign/Likely benign 197051 rs33912216 12:1902905-1902905 12:1793739-1793739
156 CACNA2D4 NM_172364.5(CACNA2D4):c.1508G>A (p.Ser503Asn)SNV Benign/Likely benign 307860 rs77736644 12:1989025-1989025 12:1879859-1879859
157 CACNA2D4 NM_172364.5(CACNA2D4):c.*1336C>ASNV Benign 307806 rs1044825 12:1901485-1901485 12:1792319-1792319
158 CACNA2D4 NM_172364.5(CACNA2D4):c.*1202deldeletion Benign 307811 rs57667551 12:1901619-1901619 12:1792453-1792453
159 CACNA2D4 NM_172364.5(CACNA2D4):c.*55A>CSNV Benign 307828 rs2058111 12:1902766-1902766 12:1793600-1793600
160 CACNA2D4 NM_172364.5(CACNA2D4):c.*1428_*1429insGAGinsertion Benign 307801 rs77487055 12:1901392-1901393 12:1792226-1792227
161 KCNV2 NM_133497.4(KCNV2):c.183C>G (p.Gly61=)SNV Benign 96357 rs10967705 9:2717922-2717922 9:2717922-2717922
162 KCNV2 NM_133497.4(KCNV2):c.795C>G (p.Ala265=)SNV Benign 96362 rs12237048 9:2718534-2718534 9:2718534-2718534
163 CACNA2D4 NM_172364.5(CACNA2D4):c.2517G>A (p.Ala839=)SNV Benign 100607 rs33972365 12:1949939-1949939 12:1840773-1840773
164 KCNV2 NM_133497.4(KCNV2):c.1597C>G (p.Leu533Val)SNV Benign 262361 rs12352254 9:2729686-2729686 9:2729686-2729686
165 CACNA2D4 NM_172364.5(CACNA2D4):c.1599A>G (p.Ser533=)SNV Benign 262810 rs7966806 12:1988167-1988167 12:1879001-1879001
166 CACNA2D4 NM_172364.5(CACNA2D4):c.1515A>G (p.Thr505=)SNV Benign 262809 rs60945277 12:1989018-1989018 12:1879852-1879852
167 CACNA2D4 NM_172364.5(CACNA2D4):c.2035C>T (p.Leu679=)SNV Benign 262812 rs2286372 12:1965369-1965369 12:1856203-1856203
168 CACNA2D4 NM_172364.5(CACNA2D4):c.2316C>T (p.Phe772=)SNV Benign 262814 rs11836202 12:1955786-1955786 12:1846620-1846620
169 CACNA2D4 NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val)SNV Benign 262820 rs10735005 12:1995403-1995403 12:1886237-1886237
170 PDE6H NM_006205.3(PDE6H):c.-59G>CSNV Benign 307780 rs11056264 12:15126003-15126003 12:14973069-14973069
171 KCNV2 NM_133497.4(KCNV2):c.-42C>GSNV Benign 366403 rs7029012 9:2717698-2717698 9:2717698-2717698
172 CACNA2D4 NM_172364.5(CACNA2D4):c.*1387G>ASNV Benign 307803 rs13219 12:1901434-1901434 12:1792268-1792268
173 KCNV2 NM_133497.4(KCNV2):c.-64T>GSNV Benign 366402 rs11793555 9:2717676-2717676 9:2717676-2717676
174 PDE6H NM_006205.3(PDE6H):c.195A>G (p.Pro65=)SNV Benign 307782 rs2230872 12:15134353-15134353 12:14981419-14981419
175 CACNA2D4 NM_172364.5(CACNA2D4):c.*657G>ASNV Benign 307819 rs2286379 12:1902164-1902164 12:1792998-1792998

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

73 (showing 7, show less)
# 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

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:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.82 PDE6H GUCA1A

GO Terms for Cone Dystrophy 3

Cellular components related to Cone Dystrophy 3 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.62 GUCA1A ENSG00000287363

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

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 PDE6H GUCA1A ENSG00000287363
2 regulation of ion transmembrane transport GO:0034765 9.37 KCNV2 CACNA2D4
3 cellular response to calcium ion GO:0071277 9.26 GUCA1A ENSG00000287363
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 GUCA1A ENSG00000287363
5 visual perception GO:0007601 9.13 PDE6H GUCA1A ENSG00000287363
6 positive regulation of guanylate cyclase activity GO:0031284 8.62 GUCA1A ENSG00000287363

Molecular functions related to Cone Dystrophy 3 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 GUCA1A ENSG00000287363
2 guanylate cyclase regulator activity GO:0030249 8.62 GUCA1A ENSG00000287363

Sources for Cone Dystrophy 3

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
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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