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
# 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:

(show all 18)
# 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 (show top 50) (show all 175) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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

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

73
# 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

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

# 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:

# 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:

# 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
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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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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