RP45
MCID: RTN159
MIFTS: 37

Retinitis Pigmentosa 45 (RP45)

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

Aliases & Classifications for Retinitis Pigmentosa 45

MalaCards integrated aliases for Retinitis Pigmentosa 45:

Name: Retinitis Pigmentosa 45 57 12 72 29 13 6 15 70
Rp45 57 12 72
Retinitis Pigmentosa, Type 45 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset of symptoms in early childhood


HPO:

31
retinitis pigmentosa 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110402
OMIM® 57 613767
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3151066
UMLS 70 C3151066

Summaries for Retinitis Pigmentosa 45

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 45: 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 45, also known as rp45, is related to achromatopsia 2 and retinitis pigmentosa 29. An important gene associated with Retinitis Pigmentosa 45 is CNGB1 (Cyclic Nucleotide Gated Channel Subunit Beta 1), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. Affiliated tissues include retina, eye and bone, and related phenotypes are macular degeneration and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CNGB1 gene on chromosome 16q13.

More information from OMIM: 613767 PS268000

Related Diseases for Retinitis Pigmentosa 45

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 2 10.1 CNGB1 CNGA1
2 retinitis pigmentosa 29 10.1 CNGB1 CNGA1
3 color blindness 10.0 CNGB1 CNGA1
4 retinitis pigmentosa 10.0
5 neuroretinitis 10.0
6 retinitis 10.0
7 retinitis pigmentosa 49 10.0 CNGB1 CNGA1
8 leber congenital amaurosis 1 9.9 TULP1 CNGA1
9 usher syndrome, type iiia 9.8 TULP1 CNGB1 CNGA1
10 usher syndrome 9.8 TULP1 CNGB1 CNGA1
11 eye degenerative disease 9.8 TULP1 CNGB1 CNGA1
12 achromatopsia 9.8 TULP1 CNGB1 CNGA1
13 usher syndrome type 2 9.7 TULP1 CNGB1
14 fundus albipunctatus 9.6 TULP1 RGR
15 retinal disease 9.4 TULP1 RGR CNGB1 CNGA1
16 congenital stationary night blindness 9.4 TULP1 RGR CNGB1 CNGA1
17 cone dystrophy 9.4 TULP1 RGR CNGB1 CNGA1
18 leber plus disease 9.4 TULP1 RGR CNGB1 CNGA1
19 fundus dystrophy 9.3 TULP1 RGR CNGB1 CNGA1
20 cone-rod dystrophy 2 9.3 TULP1 RGR CNGB1 CNGA1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 45:



Diseases related to Retinitis Pigmentosa 45

Symptoms & Phenotypes for Retinitis Pigmentosa 45

Human phenotypes related to Retinitis Pigmentosa 45:

31
# Description HPO Frequency HPO Source Accession
1 macular degeneration 31 occasional (7.5%) HP:0000608
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 peripheral visual field loss 31 HP:0007994
5 bone spicule pigmentation of the retina 31 HP:0007737

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
night blindness
visual field constriction
severely reduced to nonrecordable electroretinograms
macular degeneration (in some patients)
bone-spicule pigmentary deposits in fundus

Clinical features from OMIM®:

613767 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 45 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.44 CNGA1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.44 PPRC1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.44 CNGA1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.44 PPRC1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.44 PPRC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.44 CNGB1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.44 CNGB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.44 CNGA1 CNGB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.44 CNGA1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.44 CNGB1 PPRC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.44 PPRC1

Drugs & Therapeutics for Retinitis Pigmentosa 45

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 45

Genetic Tests for Retinitis Pigmentosa 45

Genetic tests related to Retinitis Pigmentosa 45:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 45 29 CNGB1

Anatomical Context for Retinitis Pigmentosa 45

MalaCards organs/tissues related to Retinitis Pigmentosa 45:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 45

Articles related to Retinitis Pigmentosa 45:

(show all 14)
# Title Authors PMID Year
1
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. 6 57
23661369 2013
2
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 57 6
15557452 2004
3
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. 6 57
11379879 2001
4
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
5
ATG3 Is Important for the Chorion Ultrastructure During Oogenesis in the Insect Vector Rhodnius prolixus. 61
33613326 2021
6
Pseudomonas aeruginosa Elastase Contributes to the Establishment of Chronic Lung Colonization and Modulates the Immune Response in a Murine Model. 61
33510733 2020
7
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. 61
26901671 2016
8
Comparative genomics and biological characterization of sequential Pseudomonas aeruginosa isolates from persistent airways infection. 61
26714629 2015
9
Plant growth-promoting traits of epiphytic and endophytic yeasts isolated from rice and sugar cane leaves in Thailand. 61
25110131 2014
10
Transcriptome and gene expression profile of ovarian follicle tissue of the triatomine bug Rhodnius prolixus. 61
21736942 2011
11
The Retina Hotline: eighteen-month results from a telephone hotline for patients with retinal diseases. 61
20394113 2010
12
Biochemical properties of the major proteins from Rhodnius prolixus eggshell. 61
17916507 2007
13
Effects of reperfusion on arrhythmias and death after coronary artery occlusion in the rat: increased electrical stability independent of myocardial salvage. 61
9669279 1998
14
Conservation of the Plasmodium falciparum sporozoite surface protein gene, STARP, in field isolates and distinct species of Plasmodium. 61
7870130 1994

Variations for Retinitis Pigmentosa 45

ClinVar genetic disease variations for Retinitis Pigmentosa 45:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNGB1 NM_001297.5(CNGB1):c.2978G>T (p.Gly993Val) SNV Pathogenic 8897 rs121918532 GRCh37: 16:57931817-57931817
GRCh38: 16:57897913-57897913
2 CNGB1 NM_001297.5(CNGB1):c.3462+1G>A SNV Pathogenic 8898 rs1567360969 GRCh37: 16:57921758-57921758
GRCh38: 16:57887854-57887854
3 CNGB1 NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) SNV Pathogenic 209979 rs201553871 GRCh37: 16:57957231-57957231
GRCh38: 16:57923327-57923327
4 CNGB1 NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter) SNV Pathogenic 420589 rs1064794573 GRCh37: 16:57938764-57938764
GRCh38: 16:57904860-57904860
5 CNGB1 NM_001297.5(CNGB1):c.413-1G>A SNV Pathogenic 437976 rs189234741 GRCh37: 16:57996515-57996515
GRCh38: 16:57962611-57962611
6 CNGB1 NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) SNV Pathogenic 166891 rs201162411 GRCh37: 16:57935275-57935275
GRCh38: 16:57901371-57901371
7 CNGB1 NM_001297.5(CNGB1):c.1122-2A>G SNV Pathogenic 1031962 GRCh37: 16:57974227-57974227
GRCh38: 16:57940323-57940323
8 CNGB1 NM_001297.5(CNGB1):c.1217G>A (p.Trp406Ter) SNV Pathogenic 1031963 GRCh37: 16:57973489-57973489
GRCh38: 16:57939585-57939585
9 CNGB1 NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) SNV Pathogenic 866772 GRCh37: 16:58001180-58001180
GRCh38: 16:57967276-57967276
10 CNGB1 NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu) SNV Likely pathogenic 1048155 GRCh37: 16:57954434-57954434
GRCh38: 16:57920530-57920530
11 CNGB1 NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr) SNV Likely pathogenic 843111 GRCh37: 16:57937858-57937858
GRCh38: 16:57903954-57903954
12 CNGB1 NM_001297.5(CNGB1):c.2977-2del Deletion Likely pathogenic 916719 GRCh37: 16:57931820-57931820
GRCh38: 16:57897916-57897916
13 CNGB1 NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter) SNV Likely pathogenic 916718 GRCh37: 16:57984346-57984346
GRCh38: 16:57950442-57950442
14 CNGB1 NM_001297.5(CNGB1):c.1881C>A (p.Cys627Ter) SNV Likely pathogenic 983084 GRCh37: 16:57953079-57953079
GRCh38: 16:57919175-57919175
15 CNGB1 NM_001297.5(CNGB1):c.2893-7G>A SNV Likely pathogenic 369953 rs749199721 GRCh37: 16:57935346-57935346
GRCh38: 16:57901442-57901442
16 CNGB1 NM_001297.5(CNGB1):c.2543G>T (p.Gly848Val) SNV Uncertain significance 1029308 GRCh37: 16:57938729-57938729
GRCh38: 16:57904825-57904825
17 CNGB1 NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) SNV Uncertain significance 320080 rs181974243 GRCh37: 16:57951240-57951240
GRCh38: 16:57917336-57917336
18 CNGB1 NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) SNV Uncertain significance 320112 rs201407276 GRCh37: 16:57998092-57998092
GRCh38: 16:57964188-57964188
19 CNGB1 NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) SNV Uncertain significance 320057 rs201186180 GRCh37: 16:57918240-57918240
GRCh38: 16:57884336-57884336
20 CNGB1 NM_001297.5(CNGB1):c.832G>C (p.Glu278Gln) SNV Uncertain significance 811726 rs1263336688 GRCh37: 16:57992319-57992319
GRCh38: 16:57958415-57958415
21 CNGB1 NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly) SNV Uncertain significance 930498 GRCh37: 16:57965737-57965737
GRCh38: 16:57931833-57931833
22 CNGB1 NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu) SNV Uncertain significance 930651 GRCh37: 16:57954351-57954351
GRCh38: 16:57920447-57920447
23 CNGB1 NM_001297.5(CNGB1):c.1122-15C>T SNV Likely benign 194492 rs2303778 GRCh37: 16:57974240-57974240
GRCh38: 16:57940336-57940336
24 CNGB1 NM_001297.5(CNGB1):c.2370-9C>T SNV Likely benign 195865 rs374373659 GRCh37: 16:57945788-57945788
GRCh38: 16:57911884-57911884
25 CNGB1 NM_001297.5(CNGB1):c.412+8C>A SNV Likely benign 320108 rs185727761 GRCh37: 16:57996738-57996738
GRCh38: 16:57962834-57962834
26 CNGB1 NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) SNV Likely benign 810950 rs543509332 GRCh37: 16:57935274-57935274
GRCh38: 16:57901370-57901370
27 CNGB1 NM_001297.5(CNGB1):c.838-4G>T SNV Likely benign 493186 rs375539469 GRCh37: 16:57991285-57991285
GRCh38: 16:57957381-57957381
28 CNGB1 NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) SNV Benign 93698 rs10459809 GRCh37: 16:57949224-57949224
GRCh38: 16:57915320-57915320
29 CNGB1 NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) SNV Benign 166894 rs413562 GRCh37: 16:57937856-57937856
GRCh38: 16:57903952-57903952
30 CNGB1 NM_001297.5(CNGB1):c.3462+7T>C SNV Benign 320059 rs11076207 GRCh37: 16:57921752-57921752
GRCh38: 16:57887848-57887848
31 CNGB1 NM_001297.5(CNGB1):c.299G>A (p.Arg100His) SNV Benign 320110 rs13336595 GRCh37: 16:57996960-57996960
GRCh38: 16:57963056-57963056
32 CNGB1 NM_001297.5(CNGB1):c.327C>T (p.Gly109=) SNV Benign 320109 rs17821448 GRCh37: 16:57996932-57996932
GRCh38: 16:57963028-57963028
33 CNGB1 NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) SNV Benign 93696 rs1052029 GRCh37: 16:57965676-57965676
GRCh38: 16:57931772-57931772
34 CNGB1 NM_001297.5(CNGB1):c.1122-18C>T SNV Benign 811057 rs79540781 GRCh37: 16:57974243-57974243
GRCh38: 16:57940339-57940339
35 CNGB1 NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) SNV Benign 320073 rs72782250 GRCh37: 16:57937820-57937820
GRCh38: 16:57903916-57903916
36 CNGB1 NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) SNV Benign 235409 rs79889567 GRCh37: 16:57935470-57935470
GRCh38: 16:57901566-57901566
37 CNGB1 NM_001297.5(CNGB1):c.159+14C>T SNV Benign 257959 rs199591689 GRCh37: 16:58001018-58001018
GRCh38: 16:57967114-57967114

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 45:

72
# Symbol AA change Variation ID SNP ID
1 CNGB1 p.Gly993Val VAR_060491 rs121918532

Expression for Retinitis Pigmentosa 45

Search GEO for disease gene expression data for Retinitis Pigmentosa 45.

Pathways for Retinitis Pigmentosa 45

Pathways related to Retinitis Pigmentosa 45 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 CNGB1 CNGA1

GO Terms for Retinitis Pigmentosa 45

Cellular components related to Retinitis Pigmentosa 45 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.92 TULP1 RGR CNGB1 CNGA1

Biological processes related to Retinitis Pigmentosa 45 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation transmembrane transport GO:0098655 9.46 CNGB1 CNGA1
2 response to stimulus GO:0050896 9.46 TULP1 RGR CNGB1 CNGA1
3 photoreceptor cell maintenance GO:0045494 9.43 TULP1 CNGB1
4 retina homeostasis GO:0001895 9.4 TULP1 CNGB1
5 phototransduction GO:0007602 9.37 RGR CNGB1
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.32 CNGB1 CNGA1
7 detection of light stimulus involved in visual perception GO:0050908 9.26 TULP1 CNGB1
8 rhodopsin mediated signaling pathway GO:0016056 8.96 CNGB1 CNGA1
9 visual perception GO:0007601 8.92 TULP1 RGR CNGB1 CNGA1

Molecular functions related to Retinitis Pigmentosa 45 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.26 CNGB1 CNGA1
2 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB1 CNGA1
3 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB1 CNGA1
4 intracellular cyclic nucleotide activated cation channel activity GO:0005221 8.62 CNGB1 CNGA1

Sources for Retinitis Pigmentosa 45

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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