MCID: RTN034
MIFTS: 26

Retinal Cone Dystrophy 3a

Categories: 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 53 29 6 73
Achromatopsia 6 57 29 13 6 73
Rcd3a 57 53 75
Cone Dystrophy with Night Blindness and Supernormal Rod Responses, Pde6h-Related 57
Cone Dystrophy with Night Blindness and Supernormal Rod Responses Pde6h-Related 53
Cone Dystrophy with Night Blindness and Supernormal Rod Responses 75
Cone Dystrophy with Supernormal Rod Electroretinogram 75
Dystrophy, Retinal Cone, Type 3a 40
Cone Dystrophy, Retinal 3a 75
Retinal Cone Dystrophy 3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in first to second decade


HPO:

32
retinal cone dystrophy 3a:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Retinal Cone Dystrophy 3a

UniProtKB/Swiss-Prot : 75 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 3, 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

Description from OMIM: 610024

Related Diseases for Retinal Cone Dystrophy 3a

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

# Related Disease Score Top Affiliating Genes
1 retinal cone dystrophy 3b 11.8
2 cone dystrophy 3 9.2 LOC105369670 PDE6H
3 achromatopsia 9.0 LOC105369670 PDE6H

Symptoms & Phenotypes for Retinal Cone Dystrophy 3a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
nyctalopia
dyschromatopsia
nystagmus (in some patients)
decreased central vision
more

Clinical features from OMIM:

610024

Human phenotypes related to Retinal Cone Dystrophy 3a:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 photophobia 32 HP:0000613
3 reduced visual acuity 32 HP:0007663
4 nyctalopia 32 HP:0000662
5 cone/cone-rod dystrophy 32 HP:0000548
6 dyschromatopsia 32 HP:0007641
7 progressive cone degeneration 32 HP:0008020

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:

41
Retina

Publications for Retinal Cone Dystrophy 3a

Articles related to Retinal Cone Dystrophy 3a:

# Title Authors Year
1
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. ( 23143909 )
2013
2
Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. ( 23115240 )
2012
3
Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. ( 18400204 )
2008
4
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans. ( 16909397 )
2006

Variations for Retinal Cone Dystrophy 3a

ClinVar genetic disease variations for Retinal Cone Dystrophy 3a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE6H PDE6H, -29G-C, 5-PRIME UTR single nucleotide variant Pathogenic
2 PDE6H NM_006205.2(PDE6H): c.35C> G (p.Ser12Ter) single nucleotide variant Pathogenic rs200311463 GRCh37 Chromosome 12, 15130981: 15130981
3 PDE6H NM_006205.2(PDE6H): c.35C> G (p.Ser12Ter) single nucleotide variant Pathogenic rs200311463 GRCh38 Chromosome 12, 14978047: 14978047

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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