RP40
MCID: RTN134
MIFTS: 33

Retinitis Pigmentosa 40 (RP40)

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

Aliases & Classifications for Retinitis Pigmentosa 40

MalaCards integrated aliases for Retinitis Pigmentosa 40:

Name: Retinitis Pigmentosa 40 57 12 72 29 6 15 70
Rp40 57 12 72
Retinitis Pigmentosa-40 57 13
Retinitis Pigmentosa, Type 40 39

Characteristics:

OMIM®:

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


HPO:

31
retinitis pigmentosa 40:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110375
OMIM® 57 613801
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3151107
SNOMED-CT via HPO 68 258211005 28835009
UMLS 70 C3151107

Summaries for Retinitis Pigmentosa 40

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 40: 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 40, also known as rp40, is related to night blindness, congenital stationary, autosomal dominant 2 and retinitis pigmentosa 31. An important gene associated with Retinitis Pigmentosa 40 is PDE6B (Phosphodiesterase 6B), and among its related pathways/superpathways is Proximal tubule bicarbonate reclamation. Affiliated tissues include eye, retina and bone, and related phenotypes are rod-cone dystrophy and abnormal light- and dark-adapted electroretinogram

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PDE6B gene on chromosome 4p16.

More information from OMIM: 613801 PS268000

Related Diseases for Retinitis Pigmentosa 40

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 40 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, autosomal dominant 2 10.2 PDE6B-AS1 PDE6B
2 retinitis pigmentosa 31 10.1 RPGR PRPF31
3 retinitis pigmentosa 13 10.1 RPGR PRPF31
4 retinitis 10.1 RPGR PRPF31 PDE6B
5 color blindness 10.0 RPGR PDE6B
6 late-onset retinal degeneration 10.0 RPGR PRPF31 PDE6B
7 eye degenerative disease 10.0 RPGR PRPF31 PDE6B
8 stargardt disease 10.0 RPGR PRPF31 PDE6B
9 night blindness 9.9 RPGR PRPF31 PDE6B-AS1 PDE6B
10 congenital stationary night blindness 9.9 RPGR PRPF31 PDE6B-AS1 PDE6B
11 retinal disease 9.9 RPGR PRPF31 PDE6B
12 leber plus disease 9.8 RPGR PRPF31 PDE6B-AS1 PDE6B
13 cone dystrophy 9.7 RPGR PRPF31 PDE6B

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 40:



Diseases related to Retinitis Pigmentosa 40

Symptoms & Phenotypes for Retinitis Pigmentosa 40

Human phenotypes related to Retinitis Pigmentosa 40:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 abnormal light- and dark-adapted electroretinogram 31 HP:0008323

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
retinitis pigmentosa
attenuated retinal vessels
intraretinal bone-spicule pigment
absent night vision
abnormal rod and cone electroretinograms

Clinical features from OMIM®:

613801 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 40

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 40

Genetic Tests for Retinitis Pigmentosa 40

Genetic tests related to Retinitis Pigmentosa 40:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 40 29 PDE6B

Anatomical Context for Retinitis Pigmentosa 40

MalaCards organs/tissues related to Retinitis Pigmentosa 40:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 40

Articles related to Retinitis Pigmentosa 40:

(show all 20)
# Title Authors PMID Year
1
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. 6 57
18854872 2009
2
A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. 57 6
10234513 1999
3
Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa. 57 6
7599633 1995
4
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. 6 57
8394174 1993
5
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 6
26872967 2016
6
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. 6
25823529 2015
7
Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene. 6
17267005 2007
8
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. 6
12525556 2003
9
Management of Retinitis Pigmentosa via Platelet-Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of 1-Year Results. 61
32303913 2020
10
Truncated recombinant puumala virus nucleocapsid proteins protect mice against challenge in vivo. 61
18355122 2008
11
Evaluation of a novel Vi conjugate vaccine in a murine model of salmonellosis. 61
16600446 2006
12
Truncated recombinant Dobrava hantavirus nucleocapsid proteins induce strong, long-lasting immune responses in mice. 61
16714853 2006
13
A molecular phylogeny of Amazona: implications for Neotropical parrot biogeography, taxonomy, and conservation. 61
14715233 2004
14
Structure, dynamics, and thermodynamics of the structural domain of troponin C in complex with the regulatory peptide 1-40 of troponin I. 61
11513585 2001
15
In synergy with various cis-acting elements, plant insterstitial telomere motifs regulate gene expression in Arabidopsis root meristems. 61
11033353 2000
16
Role of the structural domain of troponin C in muscle regulation: NMR studies of Ca2+ binding and subsequent interactions with regions 1-40 and 96-115 of troponin I. 61
10715110 2000
17
Carrier properties of a protein derived from outer membrane protein A of Klebsiella pneumoniae. 61
10531198 1999
18
Reversible injury: creatinine kinase recovery restores bioenergetics and function. 61
8606495 1996
19
Ischemic preconditioning preserves end-ischemic ATP, enhancing functional recovery and coronary flow during reperfusion. 61
8041135 1994
20
A polyadenylate binding protein localized to the granules of cytolytic lymphocytes induces DNA fragmentation in target cells. 61
1934064 1991

Variations for Retinitis Pigmentosa 40

ClinVar genetic disease variations for Retinitis Pigmentosa 40:

6 (show all 38)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE6B NM_000283.3(PDE6B):c.1591C>T (p.Arg531Ter) SNV Pathogenic 13104 rs121918580 GRCh37: 4:654379-654379
GRCh38: 4:660590-660590
2 PDE6B NM_000283.3(PDE6B):c.1488del (p.Thr497fs) Deletion Pathogenic 13105 rs730880317 GRCh37: 4:654274-654274
GRCh38: 4:660485-660485
3 PDE6B NM_000283.3(PDE6B):c.1669C>T (p.His557Tyr) SNV Pathogenic 13106 rs121918581 GRCh37: 4:655977-655977
GRCh38: 4:662188-662188
4 PDE6B NM_000283.3(PDE6B):c.169_239dup (p.Leu83fs) Duplication Pathogenic 13108 rs1553801591 GRCh37: 4:619583-619584
GRCh38: 4:625794-625795
5 PDE6B NM_001145291.1(PDE6B):c.2419T>A (p.Trp807Arg) SNV Pathogenic 13109 rs121918583 GRCh37: 4:661711-661711
GRCh38: 4:667922-667922
6 PDE6B NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) SNV Pathogenic 217798 rs201541131 GRCh37: 4:655986-655986
GRCh38: 4:662197-662197
7 PDE6B-AS1 , PDE6B NM_000283.3(PDE6B):c.1041_1042dup (p.Val348fs) Duplication Pathogenic 560477 rs1560121685 GRCh37: 4:649776-649777
GRCh38: 4:655987-655988
8 PDE6B NM_000283.3(PDE6B):c.1107+2dup Duplication Pathogenic 560478 rs1560122302 GRCh37: 4:650082-650083
GRCh38: 4:656293-656294
9 PDE6B NM_001145291.1(PDE6B):c.1923_1971delinsTCTGGGTA (p.Asn643fs) Indel Pathogenic 560479 rs1560134806 GRCh37: 4:657561-657609
GRCh38: 4:663772-663820
10 PDE6B NM_000283.3(PDE6B):c.583A>T (p.Lys195Ter) SNV Pathogenic 560481 rs1212998897 GRCh37: 4:628580-628580
GRCh38: 4:634791-634791
11 PDE6B-AS1 , PDE6B NM_000283.3(PDE6B):c.837del (p.Asp279fs) Deletion Pathogenic 560482 rs746141070 GRCh37: 4:647766-647766
GRCh38: 4:653977-653977
12 PDE6B NM_000283.3(PDE6B):c.177_248dup (p.Leu60_Leu83dup) Duplication Pathogenic 813064 GRCh37: 4:619589-619590
GRCh38: 4:625800-625801
13 PDE6B NM_000283.3(PDE6B):c.1401+2T>G SNV Pathogenic 813068 GRCh37: 4:651285-651285
GRCh38: 4:657496-657496
14 PDE6B-AS1 , PDE6B NM_000283.3(PDE6B):c.892C>T (p.Gln298Ter) SNV Pathogenic 13103 rs121918579 GRCh37: 4:647908-647908
GRCh38: 4:654119-654119
15 PDE6B NM_000283.3(PDE6B):c.2193+1G>A SNV Pathogenic 167440 rs727504075 GRCh37: 4:658734-658734
GRCh38: 4:664945-664945
16 PDE6B NM_000283.3(PDE6B):c.1832+1G>T SNV Pathogenic/Likely pathogenic 522405 rs370758397 GRCh37: 4:656408-656408
GRCh38: 4:662619-662619
17 PDE6B NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) Indel Pathogenic/Likely pathogenic 224742 rs869312177 GRCh37: 4:657561-657607
GRCh38: 4:663772-663818
18 PDE6B NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) SNV Likely pathogenic 378339 rs760766981 GRCh37: 4:654368-654368
GRCh38: 4:660579-660579
19 PDE6B NM_000283.3(PDE6B):c.1876G>T (p.Glu626Ter) SNV Likely pathogenic 224741 rs758052437 GRCh37: 4:656932-656932
GRCh38: 4:663143-663143
20 PDE6B NM_000283.3(PDE6B):c.2326G>A (p.Asp776Asn) SNV Likely pathogenic 349392 rs141563823 GRCh37: 4:660377-660377
GRCh38: 4:666588-666588
21 PDE6B-AS1 , PDE6B NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) SNV Likely pathogenic 425324 rs1064797304 GRCh37: 4:647902-647902
GRCh38: 4:654113-654113
22 PDE6B NM_000283.4(PDE6B):c.221dup (p.Val75fs) Duplication Likely pathogenic 997841 GRCh37: 4:619635-619636
GRCh38: 4:625846-625847
23 PDE6B NM_000283.4(PDE6B):c.1258-2A>G SNV Likely pathogenic 997842 GRCh37: 4:651138-651138
GRCh38: 4:657349-657349
24 PDE6B NM_000283.3(PDE6B):c.1390C>T (p.Gln464Ter) SNV Likely pathogenic 813062 GRCh37: 4:651272-651272
GRCh38: 4:657483-657483
25 PDE6B NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) Deletion Likely pathogenic 986375 GRCh37: 4:657565-657586
GRCh38: 4:663776-663797
26 PDE6B NM_000283.4(PDE6B):c.1667A>G (p.Tyr556Cys) SNV Uncertain significance 997843 GRCh37: 4:655975-655975
GRCh38: 4:662186-662186
27 PDE6B NM_000283.3(PDE6B):c.1744T>C (p.Tyr582His) SNV Uncertain significance 813063 GRCh37: 4:656319-656319
GRCh38: 4:662530-662530
28 PDE6B NM_000283.3(PDE6B):c.2003A>G (p.Asp668Gly) SNV Uncertain significance 813066 GRCh37: 4:657641-657641
GRCh38: 4:663852-663852
29 PDE6B NM_000283.3(PDE6B):c.1811C>T (p.Thr604Ile) SNV Uncertain significance 225435 rs752738349 GRCh37: 4:656386-656386
GRCh38: 4:662597-662597
30 PDE6B NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys) SNV Uncertain significance 986369 GRCh37: 4:656317-656317
GRCh38: 4:662528-662528
31 PDE6B NM_000283.3(PDE6B):c.1107+3A>G SNV Uncertain significance 438188 rs370898371 GRCh37: 4:650084-650084
GRCh38: 4:656295-656295
32 PDE6B NM_000283.3(PDE6B):c.2407A>G (p.Asn803Asp) SNV Uncertain significance 560480 rs771338607 GRCh37: 4:661699-661699
GRCh38: 4:667910-667910
33 PDE6B NM_000283.4(PDE6B):c.559G>A (p.Val187Met) SNV Uncertain significance 930976 GRCh37: 4:628556-628556
GRCh38: 4:634767-634767
34 PDE6B NM_000283.3(PDE6B):c.546T>A (p.Asn182Lys) SNV Uncertain significance 523351 rs368094720 GRCh37: 4:628543-628543
GRCh38: 4:634754-634754
35 PDE6B NM_000283.4(PDE6B):c.1859A>G (p.His620Arg) SNV Uncertain significance 931852 GRCh37: 4:656915-656915
GRCh38: 4:663126-663126
36 PDE6B NM_000283.4(PDE6B):c.2353-7_2353-3del Deletion Uncertain significance 931878 GRCh37: 4:661635-661639
GRCh38: 4:667846-667850
37 PDE6B NM_000283.3(PDE6B):c.385G>A (p.Glu129Lys) SNV Uncertain significance 636062 rs749657417 GRCh37: 4:619800-619800
GRCh38: 4:626011-626011
38 PDE6B NM_000283.3(PDE6B):c.2140A>T (p.Met714Leu) SNV not provided 684509 rs751413984 GRCh37: 4:658680-658680
GRCh38: 4:664891-664891

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 40:

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 PDE6B p.His557Tyr VAR_006050 rs121918581
2 PDE6B p.Gly576Asp VAR_006051
3 PDE6B p.Leu699Arg VAR_006052
4 PDE6B p.Arg74Cys VAR_009283 rs144590560
5 PDE6B p.Tyr219His VAR_009286 rs62295357
6 PDE6B p.Leu228His VAR_009287
7 PDE6B p.Leu527Pro VAR_009290 rs760766981
8 PDE6B p.Ile535Asn VAR_009291 rs527236088
9 PDE6B p.Arg552Gln VAR_009292 rs751859807
10 PDE6B p.Leu854Arg VAR_009293
11 PDE6B p.Arg100His VAR_068361 rs555600300
12 PDE6B p.Asp776Asn VAR_068362 rs141563823

Expression for Retinitis Pigmentosa 40

Search GEO for disease gene expression data for Retinitis Pigmentosa 40.

Pathways for Retinitis Pigmentosa 40

Pathways related to Retinitis Pigmentosa 40 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 CA2 ATP1A1

GO Terms for Retinitis Pigmentosa 40

Molecular functions related to Retinitis Pigmentosa 40 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.1 RTCA RPL13 RPGR PRPF31 KPNA2 EEF1A1

Sources for Retinitis Pigmentosa 40

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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