RP51
MCID: RTN106
MIFTS: 36

Retinitis Pigmentosa 51 (RP51)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 51

MalaCards integrated aliases for Retinitis Pigmentosa 51:

Name: Retinitis Pigmentosa 51 56 12 73 29 13 6 15 71
Rp51 56 12 73
Retinitis Pigmentosa, Type 51 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
affected individuals do not exhibit any features of bardet-biedl syndrome (see )
one large consanguineous pakistani family has been reported (last curated may 2016)


HPO:

31
retinitis pigmentosa 51:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110398
OMIM 56 613464
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3150715
UMLS 71 C3150715

Summaries for Retinitis Pigmentosa 51

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 51: 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 51, also known as rp51, is related to bardet-biedl syndrome and retinitis pigmentosa, and has symptoms including photophobia An important gene associated with Retinitis Pigmentosa 51 is TTC8 (Tetratricopeptide Repeat Domain 8), and among its related pathways/superpathways is mRNA Splicing - Minor Pathway. Affiliated tissues include retina, eye and bone, and related phenotypes are rod-cone dystrophy and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the TTC8 gene on chromosome 14q31.

More information from OMIM: 613464 PS268000

Related Diseases for Retinitis Pigmentosa 51

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 51 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 29.5 TTC8 PRPF8 C8orf37
2 retinitis pigmentosa 28.3 TTC8 RD3 PRPF8 NMNAT1 IDH3B C8orf37
3 bardet-biedl syndrome 8 10.2
4 neuroretinitis 10.2
5 retinitis 10.2
6 nonsyndromic retinitis pigmentosa 10.2
7 pancreatic adenosquamous carcinoma 10.0 UPF3A UPF2
8 thrombocytopenia-absent radius syndrome 9.9 UPF3A UPF2
9 metaphyseal chondrodysplasia, schmid type 9.9 UPF3A UPF2
10 ullrich congenital muscular dystrophy 1 9.8 UPF3A UPF2
11 noonan syndrome 4 9.7 RD3 POLR2B
12 leber congenital amaurosis 1 9.6 RD3 NMNAT1
13 leber congenital amaurosis 12 9.6 RD3 NMNAT1
14 leber congenital amaurosis 9.1 TTC8 RD3 NMNAT1 C8orf37
15 fundus dystrophy 8.7 TTC8 RD3 PRPF8 NMNAT1 IDH3B C8orf37

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 51:



Diseases related to Retinitis Pigmentosa 51

Symptoms & Phenotypes for Retinitis Pigmentosa 51

Human phenotypes related to Retinitis Pigmentosa 51:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
3 photophobia 31 HP:0000613
4 pallor 31 HP:0000980
5 reduced visual acuity 31 HP:0007663
6 macular degeneration 31 HP:0000608
7 high myopia 31 HP:0011003
8 attenuation of retinal blood vessels 31 HP:0007843
9 abnormal light- and dark-adapted electroretinogram 31 HP:0008323
10 bone spicule pigmentation of the retina 31 HP:0007737

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
reduced visual acuity
macular degeneration
high myopia
night blindness
more

Clinical features from OMIM:

613464

UMLS symptoms related to Retinitis Pigmentosa 51:


photophobia

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 51 according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.78 NMNAT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.78 POLR2B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.78 NMNAT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.78 NMNAT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.78 IDH3B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.78 POLR2B RPAP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 NMNAT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.78 POLR2B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-170 9.78 POLR2B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.78 IDH3B NMNAT1 POLR2B RPAP1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.78 NMNAT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.78 NMNAT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.78 NMNAT1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.78 POLR2B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.78 POLR2B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.78 POLR2B RPAP1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.78 NMNAT1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.78 RPAP1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.78 NMNAT1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.78 IDH3B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.78 RPAP1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.78 IDH3B
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.78 NMNAT1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.78 RPAP1

MGI Mouse Phenotypes related to Retinitis Pigmentosa 51:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 C8orf37 IDH3B NMNAT1 PRPF8 RD3 TTC8

Drugs & Therapeutics for Retinitis Pigmentosa 51

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 51

Genetic Tests for Retinitis Pigmentosa 51

Genetic tests related to Retinitis Pigmentosa 51:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 51 29 TTC8

Anatomical Context for Retinitis Pigmentosa 51

MalaCards organs/tissues related to Retinitis Pigmentosa 51:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 51

Articles related to Retinitis Pigmentosa 51:

(show all 14)
# Title Authors PMID Year
1
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51). 61 56 6
26195043 2016
2
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 56 6
20451172 2010
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
4
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. 6
25776555 2015
5
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
6
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
7
Cloning and expression of 51-kDa antigenic protein of Neorickettsia risticii NR-JA1. 61
16481521 2005
8
Recombinant p51 as antigen in an immune complex transfer enzyme immunoassay of immunoglobulin G antibody to human immunodeficiency virus type 1. 61
11063508 2000
9
Coordinate expression of ribosomal protein genes in Neurospora crassa and identification of conserved upstream sequences. 61
1836561 1991
10
Posttranscriptional regulation and assembly into ribosomes of a Saccharomyces cerevisiae ribosomal protein-beta-galactosidase fusion. 61
3939318 1985
11
Effect of RP51 gene dosage alterations on ribosome synthesis in Saccharomyces cerevisiae. 61
3915776 1985
12
Two genes for ribosomal protein 51 of Saccharomyces cerevisiae complement and contribute to the ribosomes. 61
6092944 1984
13
Expression of a beta-galactosidase gene containing the ribosomal protein 51 intron is sensitive to the rna2 mutation of yeast. 61
6308621 1983
14
Further evidence that the rna2 mutation of Saccharomyces cerevisiae affects mRNA processing. 61
6757717 1982

Variations for Retinitis Pigmentosa 51

ClinVar genetic disease variations for Retinitis Pigmentosa 51:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTC8 NM_144596.3(TTC8):c.1347G>C (p.Gln449His)SNV Pathogenic 235131 rs876661403 14:89338796-89338796 14:88872452-88872452
2 TTC8 NM_144596.3(TTC8):c.115-2A>GSNV Pathogenic 2532 rs587777809 14:89300035-89300035 14:88833691-88833691
3 TTC8 NM_144596.3(TTC8):c.265+1_265+2deldeletion Likely pathogenic 804470 14:89305917-89305918 14:88839573-88839574
4 TTC8 NM_198309.3(TTC8):c.1021C>T (p.Arg341Trp)SNV Uncertain significance 423070 rs755412340 14:89337894-89337894 14:88871550-88871550
5 TTC8 NM_198309.3(TTC8):c.1297C>T (p.Arg433Trp)SNV Uncertain significance 531831 rs140698625 14:89338776-89338776 14:88872432-88872432

Expression for Retinitis Pigmentosa 51

Search GEO for disease gene expression data for Retinitis Pigmentosa 51.

Pathways for Retinitis Pigmentosa 51

Pathways related to Retinitis Pigmentosa 51 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.35 PRPF8 POLR2B

GO Terms for Retinitis Pigmentosa 51

Cellular components related to Retinitis Pigmentosa 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.61 UPF3A UPF2 RPAP1 RD3 PRPF8 POLR2B
2 photoreceptor inner segment GO:0001917 9.16 RD3 C8orf37
3 exon-exon junction complex GO:0035145 8.62 UPF3A UPF2

Molecular functions related to Retinitis Pigmentosa 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.65 UPF3A UPF2 PRPF8 POLR2B APOBEC3C
2 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.16 RPAP1 POLR2B
3 telomeric DNA binding GO:0042162 8.96 UPF3A UPF2
4 nucleotidyltransferase activity GO:0016779 8.8 RPAP1 POLR2B NMNAT1

Sources for Retinitis Pigmentosa 51

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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