RP33
MCID: RTN062
MIFTS: 32

Retinitis Pigmentosa 33 (RP33)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 33

MalaCards integrated aliases for Retinitis Pigmentosa 33:

Name: Retinitis Pigmentosa 33 58 12 54 76 30 13 6 15 74
Rp33 58 12 76
Retinitis Pigmentosa, Type 33 41
Rp 33 54

Characteristics:

HPO:

33
retinitis pigmentosa 33:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110366
OMIM 58 610359
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1835895
UMLS 74 C1835895

Summaries for Retinitis Pigmentosa 33

UniProtKB/Swiss-Prot : 76 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 pigmentosa and leber congenital amaurosis 4. An important gene associated with Retinitis Pigmentosa 33 is SNRNP200 (Small Nuclear Ribonucleoprotein U5 Subunit 200). Affiliated tissues include bone, eye and retina, 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.

Description from OMIM: 610359

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 33 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.1
2 leber congenital amaurosis 4 10.1
3 retinitis 10.1
4 cone-rod dystrophy 9 10.0 CNGA3 PLIN2
5 la crosse encephalitis 10.0 IRF3 MERTK
6 noonan syndrome 9 9.9 BACE1 IRF3
7 herpes simplex encephalitis 9.9 IRF3 TBK1
8 achromatopsia 3 9.7 BACE1 CNGA3

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 optic disc pallor 33 HP:0000543
5 attenuation of retinal blood vessels 33 HP:0007843
6 bone spicule pigmentation of the retina 33 HP:0007737
7 retinal pigment epithelial atrophy 33 HP:0007722

Clinical features from OMIM:

610359

MGI Mouse Phenotypes related to Retinitis Pigmentosa 33:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 BACE1 CHST10 CHST14 IRF3 MERTK PLIN2
2 integument MP:0010771 9.43 BACE1 CHST14 MERTK PLIN2 SEMA4C TBK1
3 liver/biliary system MP:0005370 9.02 CHST14 MERTK PLIN2 SEC63 TBK1

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 30 SNRNP200

Anatomical Context for Retinitis Pigmentosa 33

MalaCards organs/tissues related to Retinitis Pigmentosa 33:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 33

Articles related to Retinitis Pigmentosa 33:

# Title Authors Year
1
Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition. ( 24302620 )
2014
2
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. ( 23029027 )
2012
3
Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. ( 19710410 )
2010
4
Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. ( 19878916 )
2009
5
A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. ( 16612614 )
2006
6
rP33 activates bacterial killing by chicken peripheral blood heterophils. ( 12747686 )
2003

Variations for Retinitis Pigmentosa 33

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

76 (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

ClinVar genetic disease variations for Retinitis Pigmentosa 33:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SNRNP200 NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu) single nucleotide variant Pathogenic/Likely pathogenic rs267607077 GRCh37 Chromosome 2, 96953706: 96953706
2 SNRNP200 NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu) single nucleotide variant Pathogenic/Likely pathogenic rs267607077 GRCh38 Chromosome 2, 96287968: 96287968
3 SNRNP200 NM_014014.4(SNRNP200): c.3269G> T (p.Arg1090Leu) single nucleotide variant Pathogenic rs397514574 GRCh37 Chromosome 2, 96953697: 96953697
4 SNRNP200 NM_014014.4(SNRNP200): c.3269G> T (p.Arg1090Leu) single nucleotide variant Pathogenic rs397514574 GRCh38 Chromosome 2, 96287959: 96287959
5 SNRNP200 NM_014014.4(SNRNP200): c.2653C> G (p.Gln885Glu) single nucleotide variant Pathogenic rs397514575 GRCh37 Chromosome 2, 96956153: 96956153
6 SNRNP200 NM_014014.4(SNRNP200): c.2653C> G (p.Gln885Glu) single nucleotide variant Pathogenic rs397514575 GRCh38 Chromosome 2, 96290415: 96290415

Expression for Retinitis Pigmentosa 33

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

Pathways for Retinitis Pigmentosa 33

GO Terms for Retinitis Pigmentosa 33

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of type I interferon production GO:0032481 9.4 IRF3 TBK1
2 negative regulation of type I interferon production GO:0032480 9.37 IRF3 TBK1
3 positive regulation of interferon-beta production GO:0032728 9.32 IRF3 TBK1
4 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.26 IRF3 TBK1
5 positive regulation of interferon-alpha production GO:0032727 9.16 IRF3 TBK1
6 regulation of type I interferon production GO:0032479 8.96 IRF3 TBK1
7 carbohydrate biosynthetic process GO:0016051 8.62 CHST10 CHST14

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

# Name GO ID Score Top Affiliating Genes
1 sulfotransferase activity GO:0008146 8.96 CHST10 CHST14
2 ATP-dependent RNA helicase activity GO:0004004 8.62 SKIV2L SNRNP200

Sources for Retinitis Pigmentosa 33

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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