COD3
MCID: CND011
MIFTS: 36

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 57 74 29 6 44 72
Cone-Rod Dystrophy 14 57 12
Cone Dystrophy-3 57 13
Cod3 57 74
Dystrophy, Cone, Type 3 40
Retinal Cone Dystrophy 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
cone dystrophy 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080314
MedGen 42 C1865869
UMLS 72 C1838190 C1865869 C2677463

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-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 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 : 74 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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

41
Eye, Retina

Publications for Cone Dystrophy 3

Articles related to Cone Dystrophy 3:

(show all 18)
# Title Authors PMID Year
1
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. 8 71
28125083 2017
2
Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. 8 71
24024198 2013
3
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. 8 71
15953638 2005
4
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 8 71
15790869 2005
5
Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). 8 71
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. 8 71
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. 71
26358777 2015
8
Cone rod dystrophies. 71
17270046 2007
9
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. 8
16644365 2006
10
Local cone and rod system function in progressive cone dystrophy. 8
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. 71
11146732 2001
12
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 71
11006213 2000
13
Constitutive activation of photoreceptor guanylate cyclase by Y99C mutant of GCAP-1. Possible role in causing human autosomal dominant cone degeneration. 71
9651312 1998
14
GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. 71
9702199 1998
15
Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. 38
21464903 2011
16
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. 38
11484154 2001
17
Analysis of peripherin/RDS gene for Japanese retinal dystrophies. 38
9690896 1998
18
Simultaneous foveal and parafoveal electroretinograms in hereditary degeneration of the central retina. 38
2791851 1989

Variations for Cone Dystrophy 3

ClinVar genetic disease variations for Cone Dystrophy 3:

6 (show top 50) (show all 173)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GUCA1A NM_000409.4(GUCA1A): c.359_360delinsTT (p.Arg120Leu) indel Pathogenic rs1554186441 6:42146547-42146548 6:42178809-42178810
2 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs104893967 6:42146112-42146112 6:42178374-42178374
3 GUCA1A NM_000409.4(GUCA1A): c.451C> T (p.Leu151Phe) single nucleotide variant Pathogenic rs121434631 6:42146986-42146986 6:42179248-42179248
4 GUCA1A NM_000409.4(GUCA1A): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic rs869320709 6:42146066-42146066 6:42178328-42178328
5 GUCA1A NM_000409.4(GUCA1A): c.320T> C (p.Ile107Thr) single nucleotide variant Pathogenic rs869320710 6:42146136-42146136 6:42178398-42178398
6 CACNA2D4 NM_172364.5(CACNA2D4): c.2649C> T (p.Cys883=) single nucleotide variant Conflicting interpretations of pathogenicity rs184770223 12:1919718-1919718 12:1810552-1810552
7 CACNA2D4 NM_172364.5(CACNA2D4): c.2793-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs147575839 12:1910299-1910299 12:1801133-1801133
8 KCNV2 NM_133497.4(KCNV2): c.1083A> G (p.Gln361=) single nucleotide variant Conflicting interpretations of pathogenicity rs142744007 9:2718822-2718822 9:2718822-2718822
9 KCNV2 NM_133497.4(KCNV2): c.312T> C (p.Gly104=) single nucleotide variant Conflicting interpretations of pathogenicity rs150685794 9:2718051-2718051 9:2718051-2718051
10 CACNA2D4 NM_172364.5(CACNA2D4): c.2921+7G> C single nucleotide variant Conflicting interpretations of pathogenicity rs202022529 12:1909545-1909545 12:1800379-1800379
11 CACNA2D4 NM_172364.5(CACNA2D4): c.1359C> T (p.Tyr453=) single nucleotide variant Conflicting interpretations of pathogenicity rs573565912 12:1992159-1992159 12:1882993-1882993
12 CACNA2D4 NM_172364.5(CACNA2D4): c.3356C> T (p.Pro1119Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs145150489 12:1902879-1902879 12:1793713-1793713
13 CACNA2D4 NM_172364.5(CACNA2D4): c.2095C> T (p.Leu699Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs151121191 12:1965235-1965235 12:1856069-1856069
14 CACNA2D4 NM_172364.5(CACNA2D4): c.*123A> G single nucleotide variant Uncertain significance rs188926382 12:1902698-1902698 12:1793532-1793532
15 CACNA2D4 NM_172364.5(CACNA2D4): c.*112C> T single nucleotide variant Uncertain significance rs886049121 12:1902709-1902709 12:1793543-1793543
16 CACNA2D4 NM_172364.5(CACNA2D4): c.-141C> A single nucleotide variant Uncertain significance rs886049132 12:2027780-2027780 12:1918614-1918614
17 CACNA2D4 NM_172364.5(CACNA2D4): c.3348A> T (p.Ser1116=) single nucleotide variant Uncertain significance rs368886623 12:1902887-1902887 12:1793721-1793721
18 CACNA2D4 NM_172364.4(CACNA2D4): c.2868+4_2868+7delAGTG deletion Uncertain significance rs760300917 12:1910202-1910205 12:1801036-1801039
19 CACNA2D4 NM_172364.5(CACNA2D4): c.2783T> A (p.Val928Glu) single nucleotide variant Uncertain significance rs886049125 12:1910749-1910749 12:1801583-1801583
20 CACNA2D4 NM_172364.5(CACNA2D4): c.2588G> A (p.Arg863His) single nucleotide variant Uncertain significance rs36077411 12:1920853-1920853 12:1811687-1811687
21 CACNA2D4 NM_172364.5(CACNA2D4): c.2470+11G> A single nucleotide variant Uncertain significance rs886049126 12:1953557-1953557 12:1844391-1844391
22 CACNA2D4 NM_172364.5(CACNA2D4): c.2184T> A (p.Phe728Leu) single nucleotide variant Uncertain significance rs886049128 12:1963179-1963179 12:1854013-1854013
23 CACNA2D4 NM_172364.5(CACNA2D4): c.2913G> C (p.Glu971Asp) single nucleotide variant Uncertain significance rs886049123 12:1909560-1909560 12:1800394-1800394
24 CACNA2D4 NM_172364.5(CACNA2D4): c.2714C> T (p.Ser905Phe) single nucleotide variant Uncertain significance rs372942250 12:1919451-1919451 12:1810285-1810285
25 CACNA2D4 NM_172364.5(CACNA2D4): c.2688C> T (p.Asn896=) single nucleotide variant Uncertain significance rs755996321 12:1919477-1919477 12:1810311-1810311
26 CACNA2D4 NM_172364.5(CACNA2D4): c.*783A> G single nucleotide variant Uncertain significance rs886049118 12:1902038-1902038 12:1792872-1792872
27 CACNA2D4 NM_172364.5(CACNA2D4): c.*1596G> A single nucleotide variant Uncertain significance rs114262354 12:1901225-1901225 12:1792059-1792059
28 CACNA2D4 NM_172364.5(CACNA2D4): c.2046C> T (p.Ala682=) single nucleotide variant Uncertain significance rs116214586 12:1965358-1965358 12:1856192-1856192
29 CACNA2D4 NM_172364.5(CACNA2D4): c.1926C> T (p.Ser642=) single nucleotide variant Uncertain significance rs773736333 12:1969325-1969325 12:1860159-1860159
30 CACNA2D4 NM_172364.5(CACNA2D4): c.1272+14G> A single nucleotide variant Uncertain significance rs559637881 12:1993920-1993920 12:1884754-1884754
31 CACNA2D4 NM_172364.5(CACNA2D4): c.718A> G (p.Arg240Gly) single nucleotide variant Uncertain significance rs886049130 12:2016669-2016669 12:1907503-1907503
32 CACNA2D4 NM_172364.5(CACNA2D4): c.593T> A (p.Leu198Gln) single nucleotide variant Uncertain significance rs200563551 12:2017097-2017097 12:1907931-1907931
33 PDE6H NM_006205.3(PDE6H): c.*47G> C single nucleotide variant Uncertain significance rs886049108 12:15134457-15134457 12:14981523-14981523
34 CACNA2D4 NM_172364.5(CACNA2D4): c.*1615G> C single nucleotide variant Uncertain significance rs886049112 12:1901206-1901206 12:1792040-1792040
35 CACNA2D4 NM_172364.5(CACNA2D4): c.*1597G> C single nucleotide variant Uncertain significance rs115232565 12:1901224-1901224 12:1792058-1792058
36 CACNA2D4 NM_172364.5(CACNA2D4): c.*1572G> C single nucleotide variant Uncertain significance rs886049113 12:1901249-1901249 12:1792083-1792083
37 CACNA2D4 NM_172364.5(CACNA2D4): c.*1488C> T single nucleotide variant Uncertain significance rs886049114 12:1901333-1901333 12:1792167-1792167
38 CACNA2D4 NM_172364.5(CACNA2D4): c.*1621G> C single nucleotide variant Uncertain significance rs886049111 12:1901200-1901200 12:1792034-1792034
39 CACNA2D4 NM_172364.5(CACNA2D4): c.*1613T> C single nucleotide variant Uncertain significance rs767458623 12:1901208-1901208 12:1792042-1792042
40 CACNA2D4 NM_172364.5(CACNA2D4): c.*1403C> G single nucleotide variant Uncertain significance rs148710446 12:1901418-1901418 12:1792252-1792252
41 CACNA2D4 NM_172364.5(CACNA2D4): c.*1334A> G single nucleotide variant Uncertain significance rs574025393 12:1901487-1901487 12:1792321-1792321
42 CACNA2D4 NM_172364.5(CACNA2D4): c.837C> T (p.Arg279=) single nucleotide variant Uncertain significance rs545533620 12:1996180-1996180 12:1887014-1887014
43 CACNA2D4 NM_172364.5(CACNA2D4): c.684A> C (p.Glu228Asp) single nucleotide variant Uncertain significance rs886049131 12:2016703-2016703 12:1907537-1907537
44 CACNA2D4 NM_172364.5(CACNA2D4): c.-54G> A single nucleotide variant Uncertain significance rs184264198 12:2027693-2027693 12:1918527-1918527
45 CACNA2D4 NM_172364.5(CACNA2D4): c.-151G> T single nucleotide variant Uncertain significance rs749175092 12:2027790-2027790 12:1918624-1918624
46 PDE6H NM_006205.3(PDE6H): c.*71C> T single nucleotide variant Uncertain significance rs144778897 12:15134481-15134481 12:14981547-14981547
47 CACNA2D4 NM_172364.5(CACNA2D4): c.*1364T> C single nucleotide variant Uncertain significance rs886049115 12:1901457-1901457 12:1792291-1792291
48 CACNA2D4 NM_172364.5(CACNA2D4): c.*1271C> T single nucleotide variant Uncertain significance rs562507767 12:1901550-1901550 12:1792384-1792384
49 CACNA2D4 NM_172364.5(CACNA2D4): c.*1200C> T single nucleotide variant Uncertain significance rs527521690 12:1901621-1901621 12:1792455-1792455
50 CACNA2D4 NM_172364.5(CACNA2D4): c.*1177G> A single nucleotide variant Uncertain significance rs556623869 12:1901644-1901644 12:1792478-1792478

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

74
# 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:

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

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 KCNV2 CACNA2D4

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....