RP20
MCID: RTN050
MIFTS: 37

Retinitis Pigmentosa 20 (RP20)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 20

MalaCards integrated aliases for Retinitis Pigmentosa 20:

Name: Retinitis Pigmentosa 20 56 12 52 73 29 13 6 15 71
Rp20 56 12 73
Retinitis Pigmentosa, Type 20 39
Rp 20 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early onset (3 to 7 years of age)
severe visual impairment by adulthood


HPO:

31
retinitis pigmentosa 20:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110353
OMIM 56 613794
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3151086
UMLS 71 C3151086

Summaries for Retinitis Pigmentosa 20

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 20: 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 20, also known as rp20, is related to red-green color blindness and color blindness. An important gene associated with Retinitis Pigmentosa 20 is RPE65 (Retinoid Isomerohydrolase RPE65). The drugs Lithium carbonate and Heparin have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are nystagmus and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RPE65 gene on chromosome 1p31.

More information from OMIM: 613794 PS268000

Related Diseases for Retinitis Pigmentosa 20

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 10.3 RPGR RPE65
2 color blindness 10.3 RPGR RPE65
3 leber congenital amaurosis 10 10.3 RPGR RPE65
4 yemenite deaf-blind hypopigmentation syndrome 10.3 RPGR RPE65
5 pthirus pubis infestation 10.2 MT-TV H2AC18
6 choroid disease 10.2 RPGR RPE65
7 scotoma 10.2 RPGR RPE65
8 lice infestation 10.2 MT-TV H2AC18
9 retinitis pigmentosa 24 10.2 RPGR H2AC18
10 parasitic ectoparasitic infectious disease 10.2 MT-TV H2AC18
11 enhanced s-cone syndrome 10.1 RPGR RPE65
12 retinoschisis 1, x-linked, juvenile 10.1 RPGR RPE65
13 retinitis pigmentosa 33 10.0 RP9 MT-TV
14 retinitis pigmentosa 3 10.0 RPGR RP9
15 retinitis pigmentosa 34 10.0 RPGR RP9
16 retinitis pigmentosa 12 10.0 RP9 MT-TV
17 retinitis pigmentosa 23 10.0 RPGR H2AC18
18 retinitis pigmentosa 19 10.0 RPGR RP9
19 retinitis pigmentosa 17 10.0 RPGR RP9
20 retinitis pigmentosa 6 10.0 RPGR RP9
21 retinitis pigmentosa 4 10.0 RPGR RP9
22 retinitis pigmentosa 10 10.0 RPGR RP9
23 choroideremia 9.9 RPGR RPE65
24 retinitis pigmentosa 13 9.9 RPGR RP9
25 retinitis pigmentosa 18 9.9 RP9 H2AC18
26 retinitis pigmentosa 7 9.9 RPGR RP9
27 retinitis 9.8 RPGR RPE65 RP9
28 gyrate atrophy of choroid and retina 9.8 RPGR RPE65 RP9
29 retinitis pigmentosa 14 9.8 RPGR RP9 MT-TV
30 vitelliform macular dystrophy 9.8 RPGR RPE65
31 retinal disease 9.6 RPGR RPE65 RP9 H2AC18

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



Diseases related to Retinitis Pigmentosa 20

Symptoms & Phenotypes for Retinitis Pigmentosa 20

Human phenotypes related to Retinitis Pigmentosa 20:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 rod-cone dystrophy 31 HP:0000510
3 nyctalopia 31 HP:0000662
4 visual impairment 31 HP:0000505
5 severely reduced visual acuity 31 HP:0001141
6 attenuation of retinal blood vessels 31 HP:0007843

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
night blindness
retinitis pigmentosa
severe visual impairment
attenuated vessels of optic disc
more

Clinical features from OMIM:

613794

Drugs & Therapeutics for Retinitis Pigmentosa 20

Drugs for Retinitis Pigmentosa 20 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lithium carbonate Approved 554-13-2
2
Heparin Approved, Investigational 9005-49-6 772 46507594
3 Anti-Bacterial Agents
4 calcium heparin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Paradoxical Reactions During Anti-mycobacterial Treatment of Extrapulmonary Tuberculosis in Non Immuno-compromized Patients : Clinical, Radiological et Immunological Completed NCT01252992

Search NIH Clinical Center for Retinitis Pigmentosa 20

Genetic Tests for Retinitis Pigmentosa 20

Genetic tests related to Retinitis Pigmentosa 20:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 20 29 RPE65

Anatomical Context for Retinitis Pigmentosa 20

MalaCards organs/tissues related to Retinitis Pigmentosa 20:

40
Eye, Retina, Testes, Lung

Publications for Retinitis Pigmentosa 20

Articles related to Retinitis Pigmentosa 20:

(show all 23)
# Title Authors PMID Year
1
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 56 6
15557452 2004
2
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. 56 6
9501220 1998
3
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 56 6
9326941 1997
4
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
5
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
6
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
7
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. 6
12960219 2003
8
Clinical course and visual function in a family with mutations in the RPE65 gene. 6
11786058 2002
9
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
10
Amaurosis congenita (Leber). 6
13616783 1959
11
Gene therapy for RPE65-related retinal disease. 61
30335549 2018
12
Quantitative Analysis of Airway Tree in Low-dose Chest CT with a New Model-based Iterative Reconstruction Algorithm: Comparison to Adaptive Statistical Iterative Reconstruction in Routine-dose CT. 61
30017502 2018
13
A phantom study of the performance of model-based iterative reconstruction in low-dose chest and abdominal CT: When are benefits maximized? 61
30292504 2018
14
Evaluation of Abdominal Computed Tomography Image Quality Using a New Version of Vendor-Specific Model-Based Iterative Reconstruction. 61
27529683 2017
15
Minute Ventilation Limitations of Two Field Transport Ventilators. 61
28051989 2017
16
Submillisievert CT using model-based iterative reconstruction with lung-specific setting: An initial phantom study. 61
26988356 2016
17
High-performance supercapacitor electrode materials prepared from various pollens. 61
23494916 2013
18
Phosphorylation of bamboo mosaic virus satellite RNA (satBaMV)-encoded protein P20 downregulates the formation of satBaMV-P20 ribonucleoprotein complex. 61
21965537 2012
19
A convenient immunochromatographic test strip for rapid diagnosis of yellow head virus infection in shrimp. 61
17188759 2007
20
PCR typing of Corynebacterium diphtheriae by random amplification of polymorphic DNA. 61
10509474 1999
21
A comparison of the CPAP performance characteristics of the Puritan-Bennett 7200a and a prototype continuous pressure-regulating ventilator. 61
10145988 1994
22
Hyperosmolarity response of ocular standing potential as a clinical test for retinal pigment epithelium activity chorioretinal dystrophies. 61
28063024 1984
23
Hyperosmolarity response of ocular standing potential as a clinical test for retinal pigment epithelium activity. Chorioretinal dystrophies. 61
6432505 1984

Variations for Retinitis Pigmentosa 20

ClinVar genetic disease variations for Retinitis Pigmentosa 20:

6 (show all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPE65 NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)SNV Pathogenic 13115 rs61752871 1:68910541-68910541 1:68444858-68444858
2 RPE65 NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)SNV Pathogenic 13116 rs62637004 1:68896843-68896843 1:68431160-68431160
3 RPE65 NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)SNV Pathogenic 13117 rs121917744 1:68903911-68903911 1:68438228-68438228
4 RPE65 NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)SNV Pathogenic 13118 rs61752909 1:68903976-68903976 1:68438293-68438293
5 RPE65 NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)SNV Pathogenic 29870 rs62653011 1:68903896-68903896 1:68438213-68438213
6 RPE65 NM_000329.3(RPE65):c.11+5G>ASNV Pathogenic 98825 rs61751276 1:68915573-68915573 1:68449890-68449890
7 RPE65 NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)deletion Pathogenic 98860 rs62642583 1:68910501-68910520 1:68444818-68444837
8 RPE65 NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)SNV Pathogenic 98866 rs61752877 1:68910339-68910339 1:68444656-68444656
9 RPE65 NM_000329.3(RPE65):c.95-2A>TSNV Pathogenic 98899 rs61751279 1:68912545-68912545 1:68446862-68446862
10 RPE65 NM_000329.3(RPE65):c.10del (p.Gln4fs)deletion Pathogenic 569113 rs747393487 1:68915579-68915579 1:68449896-68449896
11 RPE65 NM_000329.3(RPE65):c.1067dup (p.Asn356fs)duplication Pathogenic 596673 rs281865520 1:68903930-68903931 1:68438247-68438248
12 RPE65 NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)SNV Pathogenic 660359 1:68897192-68897192 1:68431509-68431509
13 RPE65 NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)SNV Pathogenic/Likely pathogenic 374497 rs368088025 1:68912508-68912508 1:68446825-68446825
14 RPE65 NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)SNV Pathogenic/Likely pathogenic 98863 rs62642584 1:68910508-68910508 1:68444825-68444825
15 RPE65 NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)SNV Likely pathogenic 13120 rs121917745 1:68895518-68895518 1:68429835-68429835
16 RPE65 NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)SNV Likely pathogenic 98840 rs61751282 1:68912507-68912507 1:68446824-68446824
17 RPE65 NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)duplication Likely pathogenic 658837 1:68904629-68904630 1:68438946-68438947
18 RPE65 NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)SNV Likely pathogenic 98904 rs61752908 1:68904634-68904634 1:68438951-68438951
19 RPE65 NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)SNV Likely pathogenic 98873 rs61752883 1:68906680-68906680 1:68440997-68440997
20 RPE65 NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)SNV Conflicting interpretations of pathogenicity 467827 rs1191496583 1:68910290-68910290 1:68444607-68444607
21 RPE65 NM_000329.3(RPE65):c.48T>C (p.Phe16=)SNV Conflicting interpretations of pathogenicity 98871 rs62642581 1:68914353-68914353 1:68448670-68448670
22 RPE65 NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)SNV Conflicting interpretations of pathogenicity 13119 rs61752878 1:68910315-68910315 1:68444632-68444632
23 RPE65 NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)SNV Uncertain significance 467826 rs1553153597 1:68912423-68912423 1:68446740-68446740
24 RPE65 NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)SNV Uncertain significance 556178 rs1169420841 1:68904641-68904641 1:68438958-68438958
25 RPE65 NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)SNV Uncertain significance 556104 rs1553153135 1:68904977-68904977 1:68439294-68439294
26 RPE65 NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)SNV Uncertain significance 647699 1:68897160-68897160 1:68431477-68431477
27 RPE65 NM_000329.3(RPE65):c.644-42deldeletion Likely benign 98885 rs61752893 1:68905367-68905367 1:68439684-68439684
28 RPE65 NM_000329.3(RPE65):c.644-43deldeletion Likely benign 98886 rs61752894 1:68905368-68905368 1:68439685-68439685
29 RPE65 NM_000329.3(RPE65):c.978G>T (p.Val326=)SNV Benign/Likely benign 98903 rs61752907 1:68904645-68904645 1:68438962-68438962
30 RPE65 NM_000329.3(RPE65):c.1302G>A (p.Ala434=)SNV Benign/Likely benign 467825 rs62636301 1:68897001-68897001 1:68431318-68431318
31 RPE65 NM_000329.3(RPE65):c.1155G>A (p.Thr385=)SNV Benign/Likely benign 98828 rs62653014 1:68897242-68897242 1:68431559-68431559
32 RPE65 NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)SNV Benign/Likely benign 92859 rs61752901 1:68904742-68904742 1:68439059-68439059
33 RPE65 NM_000329.3(RPE65):c.1302G>C (p.Ala434=)SNV Benign/Likely benign 98837 rs62636301 1:68897001-68897001 1:68431318-68431318
34 RPE65 NM_000329.3(RPE65):c.1338+20A>CSNV Benign 98841 rs12564647 1:68896945-68896945 1:68431262-68431262
35 RPE65 NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)SNV Benign 98836 rs34627040 1:68897002-68897002 1:68431319-68431319

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 20:

73 (show all 16)
# Symbol AA change Variation ID SNP ID
1 RPE65 p.Arg91Trp VAR_017130 rs61752871
2 RPE65 p.Leu341Ser VAR_017137 rs61752909
3 RPE65 p.Tyr368His VAR_017139 rs62653011
4 RPE65 p.Val452Gly VAR_017142 rs62637004
5 RPE65 p.Arg515Trp VAR_037619 rs121917745
6 RPE65 p.Tyr79His VAR_060809 rs61752869
7 RPE65 p.Glu95Gln VAR_060811 rs61752874
8 RPE65 p.Glu102Lys VAR_060812 rs62642584
9 RPE65 p.Asp167Tyr VAR_060814 rs61752883
10 RPE65 p.Tyr239Asp VAR_060816 rs61752896
11 RPE65 p.Lys294Thr VAR_060817 rs61752901
12 RPE65 p.Gly436Val VAR_060821 rs62637002
13 RPE65 p.Val473Asp VAR_060823 rs62637007
14 RPE65 p.Gly528Val VAR_060824 rs119363122
15 RPE65 p.Phe70Val VAR_067160
16 RPE65 p.Leu60Pro VAR_071672 rs126621791

Expression for Retinitis Pigmentosa 20

Search GEO for disease gene expression data for Retinitis Pigmentosa 20.

Pathways for Retinitis Pigmentosa 20

GO Terms for Retinitis Pigmentosa 20

Sources for Retinitis Pigmentosa 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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