RCD3A
MCID: RTN034
MIFTS: 28

Retinal Cone Dystrophy 3a (RCD3A)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinal Cone Dystrophy 3a

MalaCards integrated aliases for Retinal Cone Dystrophy 3a:

Name: Retinal Cone Dystrophy 3a 57 20 29 6 70
Achromatopsia 6 57 29 13 6 70
Rcd3a 57 20 72
Cone Dystrophy with Night Blindness and Supernormal Rod Responses, Pde6h-Related 57
Cone Dystrophy with Night Blindness and Supernormal Rod Responses Pde6h-Related 20
Cone Dystrophy with Night Blindness and Supernormal Rod Responses 72
Cone Dystrophy with Supernormal Rod Electroretinogram 72
Dystrophy, Retinal Cone, Type 3a 39
Cone Dystrophy, Retinal 3a 72
Retinal Cone Dystrophy 3 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in first to second decade


HPO:

31
retinal cone dystrophy 3a:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 610024
MeSH 44 D058499
UMLS 70 C1864900 C3552227

Summaries for Retinal Cone Dystrophy 3a

UniProtKB/Swiss-Prot : 72 Cone dystrophy, retinal 3A: A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.

MalaCards based summary : Retinal Cone Dystrophy 3a, also known as achromatopsia 6, is related to retinal cone dystrophy 3b and cone dystrophy, and has symptoms including photophobia An important gene associated with Retinal Cone Dystrophy 3a is PDE6H (Phosphodiesterase 6H). Affiliated tissues include retina, and related phenotypes are nystagmus and photophobia

More information from OMIM: 610024

Related Diseases for Retinal Cone Dystrophy 3a

Diseases in the Retinal Cone Dystrophy 3a family:

Retinal Cone Dystrophy 1 Retinal Cone Dystrophy 3b
Retinal Cone Dystrophy 4

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 retinal cone dystrophy 3b 11.9
2 cone dystrophy 10.8
3 retinitis pigmentosa 10.4
4 microphthalmia, isolated 5 10.4
5 ifap syndrome 2 10.4
6 autosomal recessive disease 10.4
7 optic disk drusen 10.4
8 retinal degeneration 10.4
9 night blindness 10.4
10 refractive error 10.4
11 achromatopsia 9.9

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



Diseases related to Retinal Cone Dystrophy 3a

Symptoms & Phenotypes for Retinal Cone Dystrophy 3a

Human phenotypes related to Retinal Cone Dystrophy 3a:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 photophobia 31 HP:0000613
3 reduced visual acuity 31 HP:0007663
4 nyctalopia 31 HP:0000662
5 cone/cone-rod dystrophy 31 HP:0000548
6 dyschromatopsia 31 HP:0007641
7 cone dystrophy 31 HP:0008020

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
nyctalopia
dyschromatopsia
nystagmus (in some patients)
decreased central vision
more

Clinical features from OMIM®:

610024 (Updated 05-Apr-2021)

UMLS symptoms related to Retinal Cone Dystrophy 3a:


photophobia

Drugs & Therapeutics for Retinal Cone Dystrophy 3a

Search Clinical Trials , NIH Clinical Center for Retinal Cone Dystrophy 3a

Genetic Tests for Retinal Cone Dystrophy 3a

Genetic tests related to Retinal Cone Dystrophy 3a:

# Genetic test Affiliating Genes
1 Retinal Cone Dystrophy 3a 29 PDE6H
2 Achromatopsia 6 29

Anatomical Context for Retinal Cone Dystrophy 3a

MalaCards organs/tissues related to Retinal Cone Dystrophy 3a:

40
Retina

Publications for Retinal Cone Dystrophy 3a

Articles related to Retinal Cone Dystrophy 3a:

# Title Authors PMID Year
1
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. 57 6
22901948 2012
2
A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy. 57 6
15629837 2005
3
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. 57
16909397 2006
4
Sites of disease action in a retinal dystrophy with supernormal and delayed rod electroretinogram b-waves. 57
8736222 1996
5
Cone dysfunction and supernormal scotopic electroretinogram with a high-intensity stimulus. A report of three cases. 57
8223112 1993
6
Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal degeneration. Comparison with retinitis pigmentosa. 57
1700774 1990
7
Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration. 57
6601944 1983
8
[Etiology of childhood visual impairment in 1989]. 61
2930124 1989
9
[Value of electroretinograms in congenital typical achromatopsia: 6 cases]. 61
5311108 1968

Variations for Retinal Cone Dystrophy 3a

ClinVar genetic disease variations for Retinal Cone Dystrophy 3a:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE6H PDE6H, -29G-C, 5-PRIME UTR SNV Pathogenic 8362 GRCh37:
GRCh38:
2 PDE6H NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) SNV Pathogenic 37245 rs200311463 GRCh37: 12:15130981-15130981
GRCh38: 12:14978047-14978047
3 PDE6H NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) SNV Conflicting interpretations of pathogenicity 37245 rs200311463 GRCh37: 12:15130981-15130981
GRCh38: 12:14978047-14978047
4 PDE6H NM_006205.3(PDE6H):c.-42C>T SNV Uncertain significance 883445 GRCh37: 12:15126020-15126020
GRCh38: 12:14973086-14973086
5 PDE6H NM_006205.3(PDE6H):c.59G>A (p.Arg20His) SNV Uncertain significance 883446 GRCh37: 12:15131005-15131005
GRCh38: 12:14978071-14978071
6 PDE6H NM_006205.3(PDE6H):c.*77C>G SNV Uncertain significance 307785 rs886049109 GRCh37: 12:15134487-15134487
GRCh38: 12:14981553-14981553
7 PDE6H NM_006205.3(PDE6H):c.*47G>C SNV Uncertain significance 307783 rs886049108 GRCh37: 12:15134457-15134457
GRCh38: 12:14981523-14981523
8 PDE6H NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser) SNV Uncertain significance 881091 GRCh37: 12:15134390-15134390
GRCh38: 12:14981456-14981456
9 PDE6H NM_006205.3(PDE6H):c.*358T>G SNV Uncertain significance 307789 rs558075003 GRCh37: 12:15134768-15134768
GRCh38: 12:14981834-14981834
10 PDE6H NM_006205.3(PDE6H):c.*134G>A SNV Uncertain significance 307786 rs886049110 GRCh37: 12:15134544-15134544
GRCh38: 12:14981610-14981610
11 PDE6H NM_006205.3(PDE6H):c.*71C>T SNV Uncertain significance 307784 rs144778897 GRCh37: 12:15134481-15134481
GRCh38: 12:14981547-14981547
12 PDE6H NM_006205.3(PDE6H):c.*369A>G SNV Uncertain significance 307790 rs571862339 GRCh37: 12:15134779-15134779
GRCh38: 12:14981845-14981845
13 PDE6H NM_006205.3(PDE6H):c.-29G>C SNV Likely benign 307781 rs114575851 GRCh37: 12:15130918-15130918
GRCh38: 12:14977984-14977984
14 PDE6H NM_006205.3(PDE6H):c.*301A>G SNV Benign 307787 rs77796036 GRCh37: 12:15134711-15134711
GRCh38: 12:14981777-14981777
15 PDE6H NM_006205.3(PDE6H):c.195A>G (p.Pro65=) SNV Benign 307782 rs2230872 GRCh37: 12:15134353-15134353
GRCh38: 12:14981419-14981419
16 PDE6H NM_006205.3(PDE6H):c.*319T>C SNV Benign 307788 rs3748304 GRCh37: 12:15134729-15134729
GRCh38: 12:14981795-14981795
17 PDE6H NM_006205.3(PDE6H):c.-73C>A SNV Benign 883444 GRCh37: 12:15125989-15125989
GRCh38: 12:14973055-14973055
18 PDE6H NM_006205.3(PDE6H):c.-59G>C SNV Benign 307780 rs11056264 GRCh37: 12:15126003-15126003
GRCh38: 12:14973069-14973069

Expression for Retinal Cone Dystrophy 3a

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

Pathways for Retinal Cone Dystrophy 3a

GO Terms for Retinal Cone Dystrophy 3a

Sources for Retinal Cone Dystrophy 3a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....