RP43
MCID: RTN133
MIFTS: 32

Retinitis Pigmentosa 43 (RP43)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 43

MalaCards integrated aliases for Retinitis Pigmentosa 43:

Name: Retinitis Pigmentosa 43 58 12 76 30 13 6 15 74
Rp43 58 12 76
Retinitis Pigmentosa, Type 43 41

Characteristics:

HPO:

33
retinitis pigmentosa 43:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110379
OMIM 58 613810
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3151139
UMLS 74 C3151139

Summaries for Retinitis Pigmentosa 43

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 43: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 43, also known as rp43, is related to autosomal dominant congenital stationary night blindness and congenital stationary night blindness. An important gene associated with Retinitis Pigmentosa 43 is PDE6A (Phosphodiesterase 6A), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, and related phenotypes are abnormal electroretinogram and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PDE6A gene on chromosome 5q31-q33.

Description from OMIM: 613810

Related Diseases for Retinitis Pigmentosa 43

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 43 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant congenital stationary night blindness 9.9 PDE6B RHO
2 congenital stationary night blindness 9.9 PDE6B RHO
3 night blindness 9.9 PDE6B RHO
4 retinitis pigmentosa 19 9.8 PDE6B RHO
5 usher syndrome, type iic 9.8 PDE6A PDE6B
6 oguchi disease 9.8 PDE6B RHO
7 retinal disease 9.6 PDE6A PDE6B RHO
8 fundus albipunctatus 9.6 PDE6B RHO
9 retinitis pigmentosa 9.5 LOC644762 PDE6A PDE6B RHO
10 leber congenital amaurosis 9.4 HSPA4 PDE6A PDE6B RHO

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 43:



Diseases related to Retinitis Pigmentosa 43

Symptoms & Phenotypes for Retinitis Pigmentosa 43

Human phenotypes related to Retinitis Pigmentosa 43:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 33 HP:0000512
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 optic disc pallor 33 HP:0000543
5 pigmentary retinopathy 33 HP:0000580
6 peripheral visual field loss 33 HP:0007994
7 attenuation of retinal blood vessels 33 HP:0007843

Clinical features from OMIM:

613810

Drugs & Therapeutics for Retinitis Pigmentosa 43

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 43

Genetic Tests for Retinitis Pigmentosa 43

Genetic tests related to Retinitis Pigmentosa 43:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 43 30 PDE6A

Anatomical Context for Retinitis Pigmentosa 43

MalaCards organs/tissues related to Retinitis Pigmentosa 43:

42
Eye

Publications for Retinitis Pigmentosa 43

Articles related to Retinitis Pigmentosa 43:

# Title Authors Year
1
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. ( 26321862 )
2015
2
Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model. ( 21039428 )
2010
3
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene. ( 18849587 )
2009
4
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. ( 17110911 )
2006
5
Characterization of a cDNA encoding RP43, a CUB-domain-containing protein from the tube of Riftia pachyptila (Vestimentifera), and distribution of its transcript. ( 10947956 )
2000
6
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. ( 7493036 )
1995

Variations for Retinitis Pigmentosa 43

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 43:

76
# Symbol AA change Variation ID SNP ID
1 PDE6A p.Ser344Arg VAR_006049 rs121918577
2 PDE6A p.Arg102His VAR_025460 rs750539462
3 PDE6A p.Arg102Ser VAR_025461 rs141252097
4 PDE6A p.Gln569Lys VAR_025466 rs139444207
5 PDE6A p.Ser573Pro VAR_025467 rs755527251

ClinVar genetic disease variations for Retinitis Pigmentosa 43:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE6A NM_000440.2(PDE6A): c.1749C> G (p.Tyr583Ter) single nucleotide variant Pathogenic rs121918576 GRCh37 Chromosome 5, 149265917: 149265917
2 PDE6A NM_000440.2(PDE6A): c.1749C> G (p.Tyr583Ter) single nucleotide variant Pathogenic rs121918576 GRCh38 Chromosome 5, 149886354: 149886354
3 PDE6A NM_000440.2(PDE6A): c.1032C> A (p.Ser344Arg) single nucleotide variant Pathogenic rs121918577 GRCh37 Chromosome 5, 149286908: 149286908
4 PDE6A NM_000440.2(PDE6A): c.1032C> A (p.Ser344Arg) single nucleotide variant Pathogenic rs121918577 GRCh38 Chromosome 5, 149907345: 149907345
5 PDE6A NM_000440.2(PDE6A): c.1683G> A (p.Trp561Ter) single nucleotide variant Pathogenic rs121918578 GRCh37 Chromosome 5, 149274791: 149274791
6 PDE6A NM_000440.2(PDE6A): c.1683G> A (p.Trp561Ter) single nucleotide variant Pathogenic rs121918578 GRCh38 Chromosome 5, 149895228: 149895228
7 PDE6A NM_000440.2(PDE6A): c.2053G> A (p.Val685Met) single nucleotide variant Pathogenic rs121909835 GRCh37 Chromosome 5, 149263074: 149263074
8 PDE6A NM_000440.2(PDE6A): c.2053G> A (p.Val685Met) single nucleotide variant Pathogenic rs121909835 GRCh38 Chromosome 5, 149883511: 149883511
9 PDE6A NM_000440.2(PDE6A): c.1408-2A> G single nucleotide variant Pathogenic rs1060499536 GRCh38 Chromosome 5, 149896778: 149896778
10 PDE6A NM_000440.2(PDE6A): c.1408-2A> G single nucleotide variant Pathogenic rs1060499536 GRCh37 Chromosome 5, 149276341: 149276341
11 PDE6A NM_000440.2(PDE6A): c.784G> A (p.Ala262Thr) single nucleotide variant Uncertain significance rs148938083 GRCh37 Chromosome 5, 149310665: 149310665
12 PDE6A NM_000440.2(PDE6A): c.784G> A (p.Ala262Thr) single nucleotide variant Uncertain significance rs148938083 GRCh38 Chromosome 5, 149931102: 149931102

Expression for Retinitis Pigmentosa 43

Search GEO for disease gene expression data for Retinitis Pigmentosa 43.

Pathways for Retinitis Pigmentosa 43

GO Terms for Retinitis Pigmentosa 43

Cellular components related to Retinitis Pigmentosa 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.8 PDE6A PDE6B RHO

Biological processes related to Retinitis Pigmentosa 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.61 PDE6A PDE6B RHO
2 visual perception GO:0007601 9.54 PDE6A PDE6B RHO
3 retina development in camera-type eye GO:0060041 9.43 PDE6A PDE6B RHO
4 regulation of cytosolic calcium ion concentration GO:0051480 9.4 PDE6A PDE6B
5 phototransduction, visible light GO:0007603 9.32 PDE6B RHO
6 detection of light stimulus GO:0009583 9.16 PDE6B RHO
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.13 PDE6A PDE6B RHO
8 rhodopsin mediated signaling pathway GO:0016056 8.8 PDE6A PDE6B RHO

Molecular functions related to Retinitis Pigmentosa 43 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoric diester hydrolase activity GO:0008081 8.96 PDE6A PDE6B
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.62 PDE6A PDE6B

Sources for Retinitis Pigmentosa 43

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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