RP33
MCID: RTN062
MIFTS: 39

Retinitis Pigmentosa 33 (RP33)

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

Aliases & Classifications for Retinitis Pigmentosa 33

MalaCards integrated aliases for Retinitis Pigmentosa 33:

Name: Retinitis Pigmentosa 33 57 12 20 72 29 13 6 15 70
Rp33 57 12 72
Retinitis Pigmentosa, Type 33 39
Rp 33 20

Characteristics:

HPO:

31
retinitis pigmentosa 33:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110366
OMIM® 57 610359
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1835895
UMLS 70 C1835895

Summaries for Retinitis Pigmentosa 33

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 33: 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 33, also known as rp33, is related to retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 33 is SNRNP200 (Small Nuclear Ribonucleoprotein U5 Subunit 200), and among its related pathways/superpathways are Gene Expression and mRNA Splicing - Major Pathway. Affiliated tissues include eye, retina and bone, and related phenotypes are visual impairment and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the SNRNP200 gene on chromosome 2q11.

More information from OMIM: 610359 PS268000

Related Diseases for Retinitis Pigmentosa 33

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 retinitis 29.0 SNRNP200 RP9 PRPF8 PRPF31 PRPF3
2 retinitis pigmentosa 27.8 SNRNP200 SEC63 RP9 PRPF8 PRPF6 PRPF4
3 retinitis pigmentosa 4 10.1 SNRNP200 RP9
4 retinitis pigmentosa 63 9.9 SNRNP200 PRPF6 PRPF31
5 retinitis pigmentosa 20 9.9 RP9 MT-TV
6 yemenite deaf-blind hypopigmentation syndrome 9.9
7 neuroretinitis 9.9
8 night blindness 9.9
9 retinitis pigmentosa 12 9.9 RP9 MT-TV
10 retinitis pigmentosa 7 9.9 SNRNP200 RP9
11 burn-mckeown syndrome 9.9 PRPF6 PRPF4
12 pseudoretinitis pigmentosa 9.8 PRPF31 PRPF3
13 retinitis pigmentosa 14 9.8 RP9 PRPF8 MT-TV
14 isolated growth hormone deficiency 9.6 PRPF4 PRPF31 PRPF3
15 retinitis pigmentosa 31 9.5 RP9 PRPF8 PRPF31 PRPF3
16 usher syndrome, type iiia 9.5 RP9 PRPF8 PRPF31 PRPF3
17 stargardt disease 9.5 SNRNP200 PRPF8 PRPF31 PRPF3
18 usher syndrome 9.5 RP9 PRPF8 PRPF31 PRPF3
19 retinal disease 9.5 RP9 PRPF8 PRPF31 PRPF3
20 congenital stationary night blindness 9.5 PRPF8 PRPF31 PRPF3
21 leber plus disease 9.5 RP9 PRPF8 PRPF31 PRPF3
22 eye degenerative disease 9.4 SNRNP200 RP9 PRPF8 PRPF31 PRPF3
23 retinitis pigmentosa 11 9.3 RP9 PRPF8 PRPF6 PRPF31 PRPF3
24 microcephalic osteodysplastic primordial dwarfism, type i 9.3 SNRNP200 PRPF8 PRPF4 PRPF31 PRPF3
25 isolated growth hormone deficiency, type ia 9.3 SNRNP200 PRPF8 PRPF4 PRPF31 PRPF3
26 mandibulofacial dysostosis, guion-almeida type 9.3 SNRNP200 PRPF8 PRPF6 PRPF4 PRPF3
27 cone-rod dystrophy 2 9.2 SNRNP200 PRPF8 PRPF6 PRPF31 PRPF3
28 retinitis pigmentosa 13 9.2 SNRNP200 RP9 PRPF8 PRPF6 PRPF31 PRPF3
29 retinitis pigmentosa 18 9.0 RP9 PRPF8 PRPF6 PRPF4 PRPF31 PRPF3
30 fundus dystrophy 8.9 SNRNP200 RP9 PRPF8 PRPF6 PRPF4 PRPF31

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 33:



Diseases related to Retinitis Pigmentosa 33

Symptoms & Phenotypes for Retinitis Pigmentosa 33

Human phenotypes related to Retinitis Pigmentosa 33:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 optic disc pallor 31 HP:0000543
5 attenuation of retinal blood vessels 31 HP:0007843
6 retinal pigment epithelial atrophy 31 HP:0007722
7 bone spicule pigmentation of the retina 31 HP:0007737

Clinical features from OMIM®:

610359 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 33 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.32 SNRNP200
2 Decreased homologous recombination repair frequency GR00151-A-2 9.32 SNRNP200
3 Decreased homologous recombination repair frequency GR00236-A-1 9.32 PRPF6 SNRNP200
4 Decreased homologous recombination repair frequency GR00236-A-2 9.32 PRPF31 PRPF6 SNRNP200
5 Decreased homologous recombination repair frequency GR00236-A-3 9.32 PRPF31 PRPF6 SNRNP200

Drugs & Therapeutics for Retinitis Pigmentosa 33

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 33

Genetic Tests for Retinitis Pigmentosa 33

Genetic tests related to Retinitis Pigmentosa 33:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 33 29 SNRNP200

Anatomical Context for Retinitis Pigmentosa 33

MalaCards organs/tissues related to Retinitis Pigmentosa 33:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 33

Articles related to Retinitis Pigmentosa 33:

(show all 13)
# Title Authors PMID Year
1
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. 57 6 61
19878916 2009
2
A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. 61 6 57
16612614 2006
3
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. 57 6
23029027 2012
4
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. 6 57
19710410 2010
5
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
6
Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition. 6
24302620 2014
7
Charge Trapping in a Low-Crystalline High-Mobility Conjugated Polymer and Its Effects on the Operational Stability of Organic Field-Effect Transistors. 61
33543611 2021
8
Role of Disorder in the Extent of Interchain Delocalization and Polaron Generation in Polythiophene Crystalline Domains. 61
29799759 2018
9
Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response. 61
27454487 2016
10
The C-terminal end of the capsid protein of Avian Nephritis Virus is antigenic and induces broadly cross-reactive antibodies. 61
25934419 2015
11
An indirect ELISA for detection of Theileria sergenti antibodies in water buffalo using a recombinant major piroplasm surface protein. 61
20207484 2010
12
rP33 activates bacterial killing by chicken peripheral blood heterophils. 61
12747686 2003
13
Staphylococcus equorum subsp. linens, subsp. nov., a starter culture component for surface ripened semi-hard cheeses. 61
12747407 2003

Variations for Retinitis Pigmentosa 33

ClinVar genetic disease variations for Retinitis Pigmentosa 33:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNRNP200 NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) SNV Pathogenic 7928 rs267607077 GRCh37: 2:96953706-96953706
GRCh38: 2:96287968-96287968
2 SNRNP200 NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu) SNV Pathogenic 39746 rs397514574 GRCh37: 2:96953697-96953697
GRCh38: 2:96287959-96287959
3 SNRNP200 NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu) SNV Pathogenic 39747 rs397514575 GRCh37: 2:96956153-96956153
GRCh38: 2:96290415-96290415
4 SNRNP200 NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) SNV Likely pathogenic 636112 rs959069360 GRCh37: 2:96958829-96958829
GRCh38: 2:96293091-96293091
5 SNRNP200 NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val) SNV Likely pathogenic 813998 rs1470798497 GRCh37: 2:96956537-96956537
GRCh38: 2:96290799-96290799
6 SNRNP200 NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His) SNV Likely pathogenic 839537 GRCh37: 2:96962311-96962311
GRCh38: 2:96296573-96296573
7 SNRNP200 NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val) SNV Uncertain significance 930353 GRCh37: 2:96961282-96961282
GRCh38: 2:96295544-96295544
8 SNRNP200 NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly) SNV Uncertain significance 930975 GRCh37: 2:96966737-96966737
GRCh38: 2:96300999-96300999
9 SNRNP200 NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln) SNV Uncertain significance 931912 GRCh37: 2:96947633-96947633
GRCh38: 2:96281895-96281895
10 SNRNP200 NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg) SNV Uncertain significance 932139 GRCh37: 2:96967279-96967279
GRCh38: 2:96301541-96301541
11 SNRNP200 NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met) SNV Uncertain significance 811347 rs779054512 GRCh37: 2:96951046-96951046
GRCh38: 2:96285308-96285308
12 SNRNP200 NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) SNV Likely benign 197443 rs147427344 GRCh37: 2:96943442-96943442
GRCh38: 2:96277704-96277704
13 SNRNP200 NM_014014.5(SNRNP200):c.382-13T>C SNV Likely benign 811882 rs759075763 GRCh37: 2:96967467-96967467
GRCh38: 2:96301729-96301729
14 SNRNP200 NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) SNV Likely benign 337531 rs72825880 GRCh37: 2:96943433-96943433
GRCh38: 2:96277695-96277695
15 SNRNP200 NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) SNV Likely benign 167714 rs149616320 GRCh37: 2:96955677-96955677
GRCh38: 2:96289939-96289939
16 SNRNP200 NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) SNV Benign 774164 rs151063400 GRCh37: 2:96953651-96953651
GRCh38: 2:96287913-96287913
17 SNRNP200 NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) SNV Benign 195686 rs143529458 GRCh37: 2:96955053-96955053
GRCh38: 2:96289315-96289315
18 SNRNP200 NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) SNV Benign 337562 rs2276647 GRCh37: 2:96965073-96965073
GRCh38: 2:96299335-96299335

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 33:

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 SNRNP200 p.Ser1087Leu VAR_063539 rs267607077
2 SNRNP200 p.Arg1090Leu VAR_063540 rs397514574
3 SNRNP200 p.Arg681Cys VAR_065587 rs959069360
4 SNRNP200 p.Arg681His VAR_065588 rs527236113
5 SNRNP200 p.Tyr689Cys VAR_065590
6 SNRNP200 p.Cys502Arg VAR_071689
7 SNRNP200 p.Ala542Val VAR_071690
8 SNRNP200 p.Pro682Ser VAR_071691
9 SNRNP200 p.Ile698Val VAR_071692 rs145742868
10 SNRNP200 p.Gln885Glu VAR_071693 rs397514575
11 SNRNP200 p.Arg1779His VAR_071694 rs749546665

Expression for Retinitis Pigmentosa 33

Search GEO for disease gene expression data for Retinitis Pigmentosa 33.

Pathways for Retinitis Pigmentosa 33

Pathways related to Retinitis Pigmentosa 33 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.07 SNRNP200 PRPF8 PRPF6 PRPF4 PRPF31 PRPF3
2
Show member pathways
12.13 SNRNP200 RP9 PRPF8 PRPF6 PRPF4 PRPF31
3 10.86 SNRNP200 PRPF8 PRPF6

GO Terms for Retinitis Pigmentosa 33

Cellular components related to Retinitis Pigmentosa 33 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear speck GO:0016607 9.72 PRPF8 PRPF6 PRPF4 PRPF31 PRPF3
2 spliceosomal complex GO:0005681 9.63 SNRNP200 PRPF8 PRPF6 PRPF4 PRPF31 PRPF3
3 catalytic step 2 spliceosome GO:0071013 9.58 SNRNP200 PRPF8 PRPF6
4 Cajal body GO:0015030 9.54 PRPF4 PRPF31 PRPF3
5 U2-type catalytic step 1 spliceosome GO:0071006 9.43 SNRNP200 PRPF8
6 U5 snRNP GO:0005682 9.43 SNRNP200 PRPF8 PRPF6
7 U2-type precatalytic spliceosome GO:0071005 9.43 SNRNP200 PRPF8 PRPF6 PRPF4 PRPF31 PRPF3
8 U4/U6 x U5 tri-snRNP complex GO:0046540 9.1 SNRNP200 PRPF8 PRPF6 PRPF4 PRPF31 PRPF3

Biological processes related to Retinitis Pigmentosa 33 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.8 SNRNP200 PRPF8 PRPF6 PRPF4 PRPF31 PRPF3
2 mRNA splicing, via spliceosome GO:0000398 9.73 SNRNP200 PRPF8 PRPF6 PRPF4 PRPF31 PRPF3
3 RNA splicing, via transesterification reactions GO:0000375 9.46 PRPF8 PRPF6 PRPF4 PRPF3
4 spliceosomal tri-snRNP complex assembly GO:0000244 9.26 PRPF8 PRPF6 PRPF31 PRPF3
5 RNA splicing GO:0008380 9.17 SNRNP200 RP9 PRPF8 PRPF6 PRPF4 PRPF31

Molecular functions related to Retinitis Pigmentosa 33 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonucleoprotein complex binding GO:0043021 9.26 PRPF6 PRPF31
2 RNA binding GO:0003723 9.17 SNRNP200 SEC63 RP9 PRPF8 PRPF6 PRPF31
3 U6 snRNA binding GO:0017070 9.16 PRPF8 PRPF4
4 U4 snRNA binding GO:0030621 8.96 PRPF4 PRPF31

Sources for Retinitis Pigmentosa 33

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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