MCID: RTN133
MIFTS: 33

Retinitis Pigmentosa 43

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 43

MalaCards integrated aliases for Retinitis Pigmentosa 43:

Name: Retinitis Pigmentosa 43 57 12 75 29 13 6 15 73
Rp43 57 12 75
Retinitis Pigmentosa, Type 43 40

Characteristics:

HPO:

32
retinitis pigmentosa 43:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613810
Disease Ontology 12 DOID:0110379
ICD10 33 H35.5
MedGen 42 C3151139
MeSH 44 D012174
UMLS 73 C3151139

Summaries for Retinitis Pigmentosa 43

UniProtKB/Swiss-Prot : 75 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 periodontal ehlers-danlos syndrome and immunodeficiency due to a classical component pathway complement deficiency. 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 visual impairment and rod-cone dystrophy

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 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 periodontal ehlers-danlos syndrome 10.2 C1R C1S
2 immunodeficiency due to a classical component pathway complement deficiency 10.1 C1R C1S
3 ehlers-danlos syndrome, periodontal type, 1 10.0 C1R C1S
4 autosomal dominant congenital stationary night blindness 10.0 PDE6B RHO
5 gingival recession 10.0 C1R C1S
6 usher syndrome, type iic 9.8 PDE6A PDE6B
7 fundus albipunctatus 9.5 PDE6B RHO
8 leber congenital amaurosis 9.0 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

Clinical features from OMIM:

613810

Human phenotypes related to Retinitis Pigmentosa 43:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 abnormal electroretinogram 32 HP:0000512
4 optic disc pallor 32 HP:0000543
5 pigmentary retinopathy 32 HP:0000580
6 nyctalopia 32 HP:0000662
7 attenuation of retinal blood vessels 32 HP:0007843
8 peripheral visual field loss 32 HP:0007994

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 29 PDE6A

Anatomical Context for Retinitis Pigmentosa 43

MalaCards organs/tissues related to Retinitis Pigmentosa 43:

41
Eye

Publications for Retinitis Pigmentosa 43

Variations for Retinitis Pigmentosa 43

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

75
# 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 16)
# 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.1926+1G> A single nucleotide variant Pathogenic rs794727139 GRCh37 Chromosome 5, 149264342: 149264342
10 PDE6A NM_000440.2(PDE6A): c.1926+1G> A single nucleotide variant Pathogenic rs794727139 GRCh38 Chromosome 5, 149884779: 149884779
11 PDE6A NM_000440.2(PDE6A): c.2332_2335delGACT (p.Asp778Leufs) deletion Pathogenic rs754012367 GRCh37 Chromosome 5, 149245756: 149245759
12 PDE6A NM_000440.2(PDE6A): c.2332_2335delGACT (p.Asp778Leufs) deletion Pathogenic rs754012367 GRCh38 Chromosome 5, 149866193: 149866196
13 PDE6A NM_000440.2(PDE6A): c.1408-2A> G single nucleotide variant Pathogenic rs1060499536 GRCh38 Chromosome 5, 149896778: 149896778
14 PDE6A NM_000440.2(PDE6A): c.1408-2A> G single nucleotide variant Pathogenic rs1060499536 GRCh37 Chromosome 5, 149276341: 149276341
15 PDE6A NM_000440.2(PDE6A): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs146591309 GRCh37 Chromosome 5, 149310680: 149310680
16 PDE6A NM_000440.2(PDE6A): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs146591309 GRCh38 Chromosome 5, 149931117: 149931117

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 visual perception GO:0007601 9.54 PDE6A PDE6B RHO
2 retina development in camera-type eye GO:0060041 9.46 PDE6B RHO
3 regulation of cytosolic calcium ion concentration GO:0051480 9.43 PDE6A PDE6B
4 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.4 PDE6A PDE6B
5 GMP metabolic process GO:0046037 9.32 PDE6A PDE6B
6 phototransduction, visible light GO:0007603 9.26 PDE6B RHO
7 detection of light stimulus GO:0009583 9.16 PDE6B RHO
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.13 PDE6A PDE6B RHO
9 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 hydrolase activity GO:0016787 9.65 BMP1 C1R C1S PDE6A PDE6B
2 serine-type endopeptidase activity GO:0004252 9.33 BMP1 C1R C1S
3 phosphoric diester hydrolase activity GO:0008081 9.32 PDE6A PDE6B
4 calcium ion binding GO:0005509 9.26 BMP1 C1R C1S EGF
5 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 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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