MCID: RTN050
MIFTS: 35

Retinitis Pigmentosa 20

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 20

MalaCards integrated aliases for Retinitis Pigmentosa 20:

Name: Retinitis Pigmentosa 20 53 12 49 71 28 13 14 69
Rp20 53 12 71
Rp 20 49

Characteristics:

OMIM:

53
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:

OMIM 53 613794
Disease Ontology 12 DOID:0110353
ICD10 32 H35.5
MedGen 39 C3151086
MeSH 41 D012174
UMLS 69 C3151086

Summaries for Retinitis Pigmentosa 20

UniProtKB/Swiss-Prot : 71 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 vulvar syringoma and vestibular gland benign neoplasm, and has symptoms including nystagmus, nyctalopia and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 20 is RPE65 (RPE65, Retinoid Isomerohydrolase), and among its related pathways/superpathways are Gene Expression and Deubiquitination. Affiliated tissues include eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 vulvar syringoma 10.3 ESR1 PGR
2 vestibular gland benign neoplasm 10.3 ESR1 PGR
3 lung leiomyoma 10.3 ESR1 PGR
4 bartholin's gland adenoma 10.3 ESR1 PGR
5 glassy cell carcinoma of the cervix 10.3 ESR1 PGR
6 vulvar benign neoplasm 10.3 ESR1 PGR
7 trigonitis 10.3 ESR1 PGR
8 vulvar leiomyoma 10.3 ESR1 PGR
9 predominantly cortical thymoma 10.3 ESR1 PGR
10 breast medullary carcinoma 10.3 ESR1 PGR
11 breast scirrhous carcinoma 10.3 ESR1 PGR
12 progesterone resistance 10.3 ESR1 PGR
13 progesterone-receptor positive breast cancer 10.3 ESR1 PGR
14 cribriform carcinoma 10.3 ESR1 PGR
15 oncocytic breast carcinoma 10.3 ESR1 PGR
16 bartholin's gland benign neoplasm 10.3 ESR1 PGR
17 endometrial squamous cell carcinoma 10.3 ESR1 PGR
18 gastric signet ring cell adenocarcinoma 10.3 ESR1 PGR
19 endometrial mucinous adenocarcinoma 10.3 ESR1 PGR
20 adenoid basal cell carcinoma 10.3 ESR1 PGR
21 deep angioma 10.3 ESR1 PGR
22 apocrine adenocarcinoma 10.3 ESR1 PGR
23 gender identity disorder 10.3 ESR1 PGR
24 cervical carcinosarcoma 10.3 ESR1 PGR
25 synchronous bilateral breast carcinoma 10.3 ESR1 PGR
26 breast adenoid cystic carcinoma 10.3 ESR1 PGR
27 intramuscular hemangioma 10.3 ESR1 PGR
28 trigeminal neuralgia 10.3 ESR1 SLC6A4
29 estrogen excess 10.3 ESR1 PGR
30 glycogen-rich clear cell breast carcinoma 10.3 ESR1 PGR
31 mammographic density 10.3 ESR1 PGR
32 retinitis pigmentosa 47 10.3 ESR1 PGR
33 adenomyosis 10.3 ESR1 PGR
34 luminal breast carcinoma 10.3 ESR1 PGR
35 breast benign neoplasm 10.3 ESR1 PGR
36 thoracic benign neoplasm 10.2 ESR1 PGR
37 adenosarcoma 10.2 ESR1 PGR
38 cervical clear cell adenocarcinoma 10.2 ESR1 PGR
39 uterine corpus cancer 10.2 ESR1 PGR
40 endometriosis of ovary 10.2 ESR1 PGR
41 inflammatory breast carcinoma 10.2 ESR1 PGR
42 mixed cell type cancer 10.2 ESR1 PGR
43 lipid-rich carcinoma 10.2 ESR1 PGR
44 corneal abscess 10.2 HRK PGR
45 reproductive organ benign neoplasm 10.2 ESR1 PGR
46 uterine benign neoplasm 10.2 ESR1 PGR
47 peritoneal mesothelioma 10.2 ESR1 PGR
48 smooth muscle tumor 10.2 ESR1 PGR
49 pancreatic mucinous cystadenoma 10.2 ESR1 PGR
50 endometritis 10.2 ESR1 PGR

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



Diseases related to Retinitis Pigmentosa 20

Symptoms & Phenotypes for Retinitis Pigmentosa 20

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
nystagmus
night blindness
severe visual impairment
attenuated vessels of optic disc
atrophy of optic disc
more

Clinical features from OMIM:

613794

Human phenotypes related to Retinitis Pigmentosa 20:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 severe visual impairment 31 HP:0001141
5 attenuation of retinal blood vessels 31 HP:0007843

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

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.96 HIST2H2AC
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.96 HRK
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.96 HIST2H2AA3 HIST2H2AC HRK SLC6A4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.96 HIST2H2AA3 HIST2H2AC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.96 HIST2H2AC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.96 HRK
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.96 SLC6A4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.96 HIST2H2AA3 HIST2H2AC
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.96 HRK
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.96 HIST2H2AA3 HIST2H2AC SLC6A4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.96 SLC6A4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.96 SLC6A4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.96 SLC6A4
14 Decreased viability in esophageal squamous lineage GR00235-A 9.17 ESR1 GLS HIST2H2AA3 HIST2H2AC PGR RPE65

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 28 RPE65

Anatomical Context for Retinitis Pigmentosa 20

MalaCards organs/tissues related to Retinitis Pigmentosa 20:

38
Eye

Publications for Retinitis Pigmentosa 20

Variations for Retinitis Pigmentosa 20

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

71 (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
15 RPE65 p.Phe70Val VAR_067160
16 RPE65 p.Leu60Pro VAR_071672

ClinVar genetic disease variations for Retinitis Pigmentosa 20:

6
# 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.1355T> G (p.Val452Gly) single nucleotide variant Pathogenic rs62637004 GRCh37 Chromosome 1, 68896843: 68896843
3 RPE65 NM_000329.2(RPE65): c.1087C> A (p.Pro363Thr) single nucleotide variant Pathogenic rs121917744 GRCh37 Chromosome 1, 68903911: 68903911
4 RPE65 NM_000329.2(RPE65): c.1022T> C (p.Leu341Ser) single nucleotide variant Pathogenic rs61752909 GRCh37 Chromosome 1, 68903976: 68903976
5 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh37 Chromosome 1, 68895518: 68895518
6 RPE65 NM_000329.2(RPE65): c.1102T> C (p.Tyr368His) single nucleotide variant Pathogenic rs62653011 GRCh37 Chromosome 1, 68903896: 68903896
7 RPE65 RPE65, IVS1, G-A, +5 single nucleotide variant Pathogenic
8 RPE65 NM_000329.2(RPE65): c.11+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs61751276 GRCh37 Chromosome 1, 68915573: 68915573
9 RPE65 NM_000329.2(RPE65): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs61752877 GRCh37 Chromosome 1, 68910339: 68910339
10 RPE65 NM_000329.2(RPE65): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs368088025 GRCh37 Chromosome 1, 68912508: 68912508

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 nuclear chromatin GO:0000790 9.33 ESR1 HIST2H2AA3 HIST2H2AC
2 small ribosomal subunit GO:0015935 8.96 RPS23 RPSA
3 nucleosome GO:0000786 8.8 HIST2H2AA3 HIST2H2AC HIST2H2BE

Molecular functions related to Retinitis Pigmentosa 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity GO:0004879 8.96 ESR1 PGR
2 steroid binding GO:0005496 8.62 ESR1 PGR

Sources for Retinitis Pigmentosa 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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