RP20
MCID: RTN050
MIFTS: 32

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 58 12 54 76 30 13 6 15 74
Rp20 58 12 76
Retinitis Pigmentosa, Type 20 41
Rp 20 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
retinitis pigmentosa 20:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110353
OMIM 58 613794
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3151086
UMLS 74 C3151086

Summaries for Retinitis Pigmentosa 20

UniProtKB/Swiss-Prot : 76 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 corneal abscess and microcephaly 5, primary, autosomal recessive. An important gene associated with Retinitis Pigmentosa 20 is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Gene Expression and Chromosome Maintenance. Affiliated tissues include eye, and related phenotypes are nystagmus and visual impairment

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

Description from OMIM: 613794

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
Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 corneal abscess 9.9 HRK PGR
2 microcephaly 5, primary, autosomal recessive 9.5 HIST2H2AA3 HIST2H2AC
3 cleft palate, isolated 9.3 HIST2H2AA3 HIST2H2AC HIST2H2BE

Symptoms & Phenotypes for Retinitis Pigmentosa 20

Human phenotypes related to Retinitis Pigmentosa 20:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 visual impairment 33 HP:0000505
3 nyctalopia 33 HP:0000662
4 rod-cone dystrophy 33 HP:0000510
5 attenuation of retinal blood vessels 33 HP:0007843
6 severely reduced visual acuity 33 HP:0001141

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
severe visual impairment
night blindness
retinitis pigmentosa
attenuated vessels of optic disc
more

Clinical features from OMIM:

613794

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 20 according to GeneCards Suite gene sharing:

27 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.21 HIST2H2AC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.21 HRK
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.21 HIST2H2AA3 HIST2H2AC SLC6A4 HRK
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.21 HIST2H2AA3 HIST2H2AC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.21 HIST2H2AC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.21 HRK
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.21 SLC6A4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.21 HIST2H2AA3 HIST2H2AC
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 10.21 HRK
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.21 HIST2H2AA3 HIST2H2AC SLC6A4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.21 SLC6A4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.21 SLC6A4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.21 SLC6A4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 HIST2H2AA3 HIST2H2AC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.55 HIST2H2AC
16 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.55 HIST2H2AA3 HIST2H2AC RPSA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.55 HIST2H2AC
18 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.55 RPSA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.55 RPSA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 HIST2H2AA3 HIST2H2AC RPSA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.55 RPSA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.55 HIST2H2AA3 HIST2H2AC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.55 HIST2H2AA3 HIST2H2AC

Drugs & Therapeutics for Retinitis Pigmentosa 20

Search Clinical Trials , 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 30 RPE65

Anatomical Context for Retinitis Pigmentosa 20

MalaCards organs/tissues related to Retinitis Pigmentosa 20:

42
Eye

Publications for Retinitis Pigmentosa 20

Variations for Retinitis Pigmentosa 20

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

76 (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

ClinVar genetic disease variations for Retinitis Pigmentosa 20:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPE65 NM_000329.2(RPE65): c.271C> T (p.Arg91Trp) single nucleotide variant Pathogenic rs61752871 GRCh37 Chromosome 1, 68910541: 68910541
2 RPE65 NM_000329.2(RPE65): c.271C> T (p.Arg91Trp) single nucleotide variant Pathogenic rs61752871 GRCh38 Chromosome 1, 68444858: 68444858
3 RPE65 NM_000329.2(RPE65): c.1355T> G (p.Val452Gly) single nucleotide variant Pathogenic rs62637004 GRCh37 Chromosome 1, 68896843: 68896843
4 RPE65 NM_000329.2(RPE65): c.1355T> G (p.Val452Gly) single nucleotide variant Pathogenic rs62637004 GRCh38 Chromosome 1, 68431160: 68431160
5 RPE65 NM_000329.2(RPE65): c.1087C> A (p.Pro363Thr) single nucleotide variant Pathogenic rs121917744 GRCh37 Chromosome 1, 68903911: 68903911
6 RPE65 NM_000329.2(RPE65): c.1087C> A (p.Pro363Thr) single nucleotide variant Pathogenic rs121917744 GRCh38 Chromosome 1, 68438228: 68438228
7 RPE65 NM_000329.2(RPE65): c.1022T> C (p.Leu341Ser) single nucleotide variant Pathogenic rs61752909 GRCh37 Chromosome 1, 68903976: 68903976
8 RPE65 NM_000329.2(RPE65): c.1022T> C (p.Leu341Ser) single nucleotide variant Pathogenic rs61752909 GRCh38 Chromosome 1, 68438293: 68438293
9 RPE65 NM_000329.2(RPE65): c.394G> A (p.Ala132Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61752878 GRCh37 Chromosome 1, 68910315: 68910315
10 RPE65 NM_000329.2(RPE65): c.394G> A (p.Ala132Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs61752878 GRCh38 Chromosome 1, 68444632: 68444632
11 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh37 Chromosome 1, 68895518: 68895518
12 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh38 Chromosome 1, 68429835: 68429835
13 RPE65 NM_000329.2(RPE65): c.1102T> C (p.Tyr368His) single nucleotide variant Pathogenic rs62653011 GRCh37 Chromosome 1, 68903896: 68903896
14 RPE65 NM_000329.2(RPE65): c.1102T> C (p.Tyr368His) single nucleotide variant Pathogenic rs62653011 GRCh38 Chromosome 1, 68438213: 68438213
15 RPE65 NM_000329.2(RPE65): c.881A> C (p.Lys294Thr) single nucleotide variant Benign/Likely benign rs61752901 GRCh37 Chromosome 1, 68904742: 68904742
16 RPE65 NM_000329.2(RPE65): c.881A> C (p.Lys294Thr) single nucleotide variant Benign/Likely benign rs61752901 GRCh38 Chromosome 1, 68439059: 68439059
17 RPE65 NM_000329.2(RPE65): c.11+5G> A single nucleotide variant Pathogenic rs61751276 GRCh37 Chromosome 1, 68915573: 68915573
18 RPE65 NM_000329.2(RPE65): c.11+5G> A single nucleotide variant Pathogenic rs61751276 GRCh38 Chromosome 1, 68449890: 68449890
19 RPE65 NM_000329.2(RPE65): c.1155G> A (p.Thr385=) single nucleotide variant Likely benign rs62653014 GRCh37 Chromosome 1, 68897242: 68897242
20 RPE65 NM_000329.2(RPE65): c.1155G> A (p.Thr385=) single nucleotide variant Likely benign rs62653014 GRCh38 Chromosome 1, 68431559: 68431559
21 RPE65 NM_000329.2(RPE65): c.1301C> T (p.Ala434Val) single nucleotide variant Benign rs34627040 GRCh37 Chromosome 1, 68897002: 68897002
22 RPE65 NM_000329.2(RPE65): c.1301C> T (p.Ala434Val) single nucleotide variant Benign rs34627040 GRCh38 Chromosome 1, 68431319: 68431319
23 RPE65 NM_000329.2(RPE65): c.1302G> C (p.Ala434=) single nucleotide variant Likely benign rs62636301 GRCh37 Chromosome 1, 68897001: 68897001
24 RPE65 NM_000329.2(RPE65): c.1302G> C (p.Ala434=) single nucleotide variant Likely benign rs62636301 GRCh38 Chromosome 1, 68431318: 68431318
25 RPE65 NM_000329.2(RPE65): c.131G> A (p.Arg44Gln) single nucleotide variant Likely pathogenic rs61751282 GRCh37 Chromosome 1, 68912507: 68912507
26 RPE65 NM_000329.2(RPE65): c.131G> A (p.Arg44Gln) single nucleotide variant Likely pathogenic rs61751282 GRCh38 Chromosome 1, 68446824: 68446824
27 RPE65 NM_000329.2(RPE65): c.1338+20A> C single nucleotide variant Benign rs12564647 GRCh37 Chromosome 1, 68896945: 68896945
28 RPE65 NM_000329.2(RPE65): c.1338+20A> C single nucleotide variant Benign rs12564647 GRCh38 Chromosome 1, 68431262: 68431262
29 RPE65 NM_000329.2(RPE65): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs61752877 GRCh37 Chromosome 1, 68910339: 68910339
30 RPE65 NM_000329.2(RPE65): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs61752877 GRCh38 Chromosome 1, 68444656: 68444656
31 RPE65 NM_000329.2(RPE65): c.48T> C (p.Phe16=) single nucleotide variant Conflicting interpretations of pathogenicity rs62642581 GRCh37 Chromosome 1, 68914353: 68914353
32 RPE65 NM_000329.2(RPE65): c.48T> C (p.Phe16=) single nucleotide variant Conflicting interpretations of pathogenicity rs62642581 GRCh38 Chromosome 1, 68448670: 68448670
33 RPE65 NM_000329.2(RPE65): c.499G> T (p.Asp167Tyr) single nucleotide variant Likely pathogenic rs61752883 GRCh37 Chromosome 1, 68906680: 68906680
34 RPE65 NM_000329.2(RPE65): c.499G> T (p.Asp167Tyr) single nucleotide variant Likely pathogenic rs61752883 GRCh38 Chromosome 1, 68440997: 68440997
35 RPE65 NM_000329.2(RPE65): c.644-42delT deletion Likely benign rs61752893 GRCh37 Chromosome 1, 68905367: 68905367
36 RPE65 NM_000329.2(RPE65): c.644-42delT deletion Likely benign rs61752893 GRCh38 Chromosome 1, 68439684: 68439684
37 RPE65 NM_000329.2(RPE65): c.644-43delA deletion Likely benign rs61752894 GRCh37 Chromosome 1, 68905368: 68905368
38 RPE65 NM_000329.2(RPE65): c.644-43delA deletion Likely benign rs61752894 GRCh38 Chromosome 1, 68439685: 68439685
39 RPE65 NM_000329.2(RPE65): c.95-2A> T single nucleotide variant Pathogenic rs61751279 GRCh37 Chromosome 1, 68912545: 68912545
40 RPE65 NM_000329.2(RPE65): c.95-2A> T single nucleotide variant Pathogenic rs61751279 GRCh38 Chromosome 1, 68446862: 68446862
41 RPE65 NM_000329.2(RPE65): c.978G> T (p.Val326=) single nucleotide variant Likely benign rs61752907 GRCh37 Chromosome 1, 68904645: 68904645
42 RPE65 NM_000329.2(RPE65): c.978G> T (p.Val326=) single nucleotide variant Likely benign rs61752907 GRCh38 Chromosome 1, 68438962: 68438962
43 RPE65 NM_000329.2(RPE65): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368088025 GRCh37 Chromosome 1, 68912508: 68912508
44 RPE65 NM_000329.2(RPE65): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368088025 GRCh38 Chromosome 1, 68446825: 68446825
45 RPE65 NM_000329.2(RPE65): c.1302G> A (p.Ala434=) single nucleotide variant Benign/Likely benign rs62636301 GRCh37 Chromosome 1, 68897001: 68897001
46 RPE65 NM_000329.2(RPE65): c.1302G> A (p.Ala434=) single nucleotide variant Benign/Likely benign rs62636301 GRCh38 Chromosome 1, 68431318: 68431318
47 RPE65 NM_000329.2(RPE65): c.419G> A (p.Gly140Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1191496583 GRCh38 Chromosome 1, 68444607: 68444607
48 RPE65 NM_000329.2(RPE65): c.419G> A (p.Gly140Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs1191496583 GRCh37 Chromosome 1, 68910290: 68910290
49 RPE65 NM_000329.2(RPE65): c.215T> C (p.Phe72Ser) single nucleotide variant Uncertain significance rs1553153597 GRCh38 Chromosome 1, 68446740: 68446740
50 RPE65 NM_000329.2(RPE65): c.215T> C (p.Phe72Ser) single nucleotide variant Uncertain significance rs1553153597 GRCh37 Chromosome 1, 68912423: 68912423

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

Cellular components related to Retinitis Pigmentosa 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosolic small ribosomal subunit GO:0022627 9.16 RPS23 RPSA
2 small ribosomal subunit GO:0015935 8.96 RPS23 RPSA
3 nucleosome GO:0000786 8.8 HIST2H2AA3 HIST2H2AC HIST2H2BE

Biological processes related to Retinitis Pigmentosa 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 8.8 BAZ2A HIST2H2AA3 HIST2H2AC

Sources for Retinitis Pigmentosa 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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