RP43
MCID: RTN133
MIFTS: 29

Retinitis Pigmentosa 43 (RP43)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 43

MalaCards integrated aliases for Retinitis Pigmentosa 43:

Name: Retinitis Pigmentosa 43 57 12 72 29 13 6 15 70
Rp43 57 12 72
Retinitis Pigmentosa, Type 43 39

Characteristics:

HPO:

31
retinitis pigmentosa 43:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110379
OMIM® 57 613810
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3151139
UMLS 70 C3151139

Summaries for Retinitis Pigmentosa 43

UniProtKB/Swiss-Prot : 72 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 retinitis pigmentosa and neuroretinitis. An important gene associated with Retinitis Pigmentosa 43 is PDE6A (Phosphodiesterase 6A). Affiliated tissues include retina, eye and bone, and related phenotypes are nyctalopia and optic disc pallor

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

More information from OMIM: 613810 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
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 retinitis pigmentosa 9.9
2 neuroretinitis 9.9
3 retinitis 9.9

Symptoms & Phenotypes for Retinitis Pigmentosa 43

Human phenotypes related to Retinitis Pigmentosa 43:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 very rare (1%) HP:0000662
2 optic disc pallor 31 very rare (1%) HP:0000543
3 peripheral visual field loss 31 very rare (1%) HP:0007994
4 attenuation of retinal blood vessels 31 very rare (1%) HP:0007843
5 posterior subcapsular cataract 31 very rare (1%) HP:0007787
6 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
7 abnormal electroretinogram 31 HP:0000512
8 rod-cone dystrophy 31 HP:0000510

Clinical features from OMIM®:

613810 (Updated 05-Apr-2021)

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:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 43

Articles related to Retinitis Pigmentosa 43:

(show all 12)
# Title Authors PMID Year
1
Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model. 6 57
21039428 2010
2
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene. 57 6
18849587 2009
3
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. 6 57
7493036 1995
4
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. 6
26321862 2015
5
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. 6
17110911 2006
6
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). 61
31456290 2020
7
Gene Supplementation Rescues Rod Function and Preserves Photoreceptor and Retinal Morphology in Dogs, Leading the Way Toward Treating Human PDE6A-Retinitis Pigmentosa. 61
29212382 2017
8
Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43). 61
29212391 2017
9
Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa. 61
29118501 2017
10
The ATPase domain of hsp70 possesses a unique binding specificity for 3'-sulfogalactolipids. 61
11024054 2001
11
Immunodiagnosis of Ehrlichia canis infection with recombinant proteins. 61
11136790 2001
12
Characterization of a cDNA encoding RP43, a CUB-domain-containing protein from the tube of Riftia pachyptila (Vestimentifera), and distribution of its transcript. 61
10947956 2000

Variations for Retinitis Pigmentosa 43

ClinVar genetic disease variations for Retinitis Pigmentosa 43:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE6A NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) SNV Pathogenic 13110 rs121918576 GRCh37: 5:149265917-149265917
GRCh38: 5:149886354-149886354
2 PDE6A NM_000440.3(PDE6A):c.1032C>A (p.Ser344Arg) SNV Pathogenic 13111 rs121918577 GRCh37: 5:149286908-149286908
GRCh38: 5:149907345-149907345
3 PDE6A NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter) SNV Pathogenic 13112 rs121918578 GRCh37: 5:149274791-149274791
GRCh38: 5:149895228-149895228
4 PDE6A NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) SNV Pathogenic 29874 rs121909835 GRCh37: 5:149263074-149263074
GRCh38: 5:149883511-149883511
5 PDE6A NM_000440.3(PDE6A):c.1408-2A>G SNV Pathogenic 225119 rs1060499536 GRCh37: 5:149276341-149276341
GRCh38: 5:149896778-149896778
6 PDE6A NM_000440.3(PDE6A):c.2027+2T>G SNV Pathogenic 930770 GRCh37: 5:149264040-149264040
GRCh38: 5:149884477-149884477
7 PDE6A NM_000440.3(PDE6A):c.2549dup (p.Ala851fs) Duplication Pathogenic 1028754 GRCh37: 5:149240491-149240492
GRCh38: 5:149860928-149860929
8 PDE6A NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter) SNV Pathogenic 865985 GRCh37: 5:149245789-149245789
GRCh38: 5:149866226-149866226
9 PDE6A NM_000440.3(PDE6A):c.2098T>C (p.Tyr700His) SNV Uncertain significance 811895 rs1581164903 GRCh37: 5:149263029-149263029
GRCh38: 5:149883466-149883466
10 PDE6A NM_000440.3(PDE6A):c.2369G>A (p.Arg790His) SNV Uncertain significance 812056 rs375516599 GRCh37: 5:149242819-149242819
GRCh38: 5:149863256-149863256
11 PDE6A NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) SNV Uncertain significance 285044 rs148938083 GRCh37: 5:149310665-149310665
GRCh38: 5:149931102-149931102
12 PDE6A NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) SNV Likely benign 100556 rs61733362 GRCh37: 5:149275993-149275993
GRCh38: 5:149896430-149896430
13 PDE6A NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) SNV Benign 138633 rs142259966 GRCh37: 5:149283238-149283238
GRCh38: 5:149903675-149903675
14 PDE6A NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) SNV Benign 93010 rs78775072 GRCh37: 5:149264106-149264106
GRCh38: 5:149884543-149884543
15 PDE6A NM_000440.3(PDE6A):c.498G>A (p.Val166=) SNV Benign 351999 rs138274547 GRCh37: 5:149314258-149314258
GRCh38: 5:149934695-149934695
16 PDE6A NM_000440.3(PDE6A):c.1171G>A (p.Val391Met) SNV Benign 440030 rs61732059 GRCh37: 5:149279030-149279030
GRCh38: 5:149899467-149899467
17 PDE6A NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) SNV Benign 352008 rs34230349 GRCh37: 5:149324153-149324153
GRCh38: 5:149944590-149944590
18 PDE6A NM_000440.3(PDE6A):c.1927-21C>G SNV Benign 811606 rs75282782 GRCh37: 5:149264163-149264163
GRCh38: 5:149884600-149884600

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

72
# 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

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

Sources for Retinitis Pigmentosa 43

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
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