MCID: RTN062
MIFTS: 32

Retinitis Pigmentosa 33

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 33

MalaCards integrated aliases for Retinitis Pigmentosa 33:

Name: Retinitis Pigmentosa 33 53 12 49 71 28 13 14 69
Rp33 53 12 71
Rp 33 49

Characteristics:

HPO:

31
retinitis pigmentosa 33:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 610359
Disease Ontology 12 DOID:0110366
ICD10 32 H35.5
MedGen 39 C1835895
MeSH 41 D012174
UMLS 69 C1835895

Summaries for Retinitis Pigmentosa 33

UniProtKB/Swiss-Prot : 71 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 rhyns syndrome and la crosse encephalitis, and has symptoms including visual impairment, rod-cone dystrophy and optic disc pallor. An important gene associated with Retinitis Pigmentosa 33 is SNRNP200 (Small Nuclear Ribonucleoprotein U5 Subunit 200). Affiliated tissues include retina, bone and eye, and related phenotypes are integument and liver/biliary system

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 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 rhyns syndrome 10.2 MERTK SNRNP200
2 la crosse encephalitis 9.9 IRF3 MERTK
3 retinitis pigmentosa 9.9
4 leber congenital amaurosis 4 9.9
5 retinitis 9.9
6 herpes simplex encephalitis 9.8 IRF3 TBK1
7 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

Clinical features from OMIM:

610359

Human phenotypes related to Retinitis Pigmentosa 33:

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

MGI Mouse Phenotypes related to Retinitis Pigmentosa 33:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.43 BACE1 CHST14 MERTK PLIN2 SEMA4C TBK1
2 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 28 SNRNP200

Anatomical Context for Retinitis Pigmentosa 33

MalaCards organs/tissues related to Retinitis Pigmentosa 33:

38
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 33

Articles related to Retinitis Pigmentosa 33:

# Title Authors Year
1
A novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1. ( 16612614 )
2006

Variations for Retinitis Pigmentosa 33

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

71 (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
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.3269G> T (p.Arg1090Leu) single nucleotide variant Pathogenic rs397514574 GRCh37 Chromosome 2, 96953697: 96953697
3 SNRNP200 NM_014014.4(SNRNP200): c.2653C> G (p.Gln885Glu) single nucleotide variant Pathogenic rs397514575 GRCh37 Chromosome 2, 96956153: 96956153

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 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.32 IRF3 TBK1
4 positive regulation of interferon-beta production GO:0032728 9.26 IRF3 TBK1
5 regulation of type I interferon production GO:0032479 9.16 IRF3 TBK1
6 positive regulation of interferon-alpha production GO:0032727 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 8.62 CHST10 CHST14

Sources for Retinitis Pigmentosa 33

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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