RP51
MCID: RTN106
MIFTS: 36

Retinitis Pigmentosa 51 (RP51)

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

Aliases & Classifications for Retinitis Pigmentosa 51

MalaCards integrated aliases for Retinitis Pigmentosa 51:

Name: Retinitis Pigmentosa 51 57 12 72 29 13 6 15 70
Rp51 57 12 72
Retinitis Pigmentosa, Type 51 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 613464
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3150715
UMLS 70 C3150715

Summaries for Retinitis Pigmentosa 51

UniProtKB/Swiss-Prot : 72 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 retinitis and bardet-biedl syndrome, and has symptoms including photophobia An important gene associated with Retinitis Pigmentosa 51 is TTC8 (Tetratricopeptide Repeat Domain 8). Affiliated tissues include retina, eye and bone, and related phenotypes are photophobia and pallor

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 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 retinitis 29.4 TOPORS RP1L1 PRPF8 FAM161A
2 bardet-biedl syndrome 29.3 TTC8 PRPF8 PCARE IFT140 C8orf37
3 retinitis pigmentosa 26.8 TTC8 TOPORS RP1L1 PRPF8 PCARE KCNJ13
4 chronic interstitial cystitis 10.2 FAM161A C8orf37
5 pigmented paravenous chorioretinal atrophy 10.2 TTC8 C8orf37
6 retinitis pigmentosa 67 10.2 PCARE C8orf37
7 retinitis pigmentosa 71 10.2 PCARE C8orf37
8 bardet-biedl syndrome 18 10.2 TTC8 C8orf37
9 bardet-biedl syndrome 19 10.1 TTC8 C8orf37
10 occult macular dystrophy 10.1 RP1L1 PCARE
11 bardet-biedl syndrome 11 10.1 TTC8 C8orf37
12 retinitis pigmentosa 60 10.1 IFT140 C8orf37
13 retinitis pigmentosa 63 10.0 TOPORS C8orf37
14 bardet-biedl syndrome 14 10.0 TTC8 C8orf37
15 bardet-biedl syndrome 8 9.9
16 neuroretinitis 9.9
17 nonsyndromic retinitis pigmentosa 9.9
18 retinitis pigmentosa 1 9.9 RP1L1 IFT140
19 stargardt disease 9.8 RP1L1 PRPF8 PCARE FAM161A
20 retinitis pigmentosa 28 9.7 TOPORS PCARE FAM161A C8orf37
21 retinitis pigmentosa 55 9.7 TTC8 RP1L1 PCARE FAM161A C8orf37
22 choroidal dystrophy, central areolar, 1 9.7 TOPORS PCARE
23 joubert syndrome 1 9.6 PCARE IFT140 FAM161A C8orf37
24 cone-rod dystrophy 16 9.6 RP1L1 PCARE IFT140 FAM161A C8orf37
25 retinal degeneration 9.5 TOPORS PCARE IFT140 FAM161A
26 usher syndrome 9.3 TTC8 TOPORS RP1L1 PRPF8 PCARE FAM161A
27 retinitis pigmentosa 31 9.2 TTC8 TOPORS RP1L1 PRPF8 PCARE FAM161A
28 retinitis pigmentosa 74 9.0 TTC8 TOPORS RP1L1 PCARE FAM161A C8orf37
29 retinitis pigmentosa 62 8.7 TTC8 TOPORS RP1L1 PCARE IFT140 FAM161A
30 retinitis pigmentosa 54 8.7 TTC8 TOPORS RP1L1 PCARE IFT140 FAM161A
31 leber plus disease 8.6 TTC8 TOPORS RP1L1 PRPF8 PCARE KCNJ13
32 cone-rod dystrophy 2 8.6 TOPORS RP1L1 PRPF8 PCARE IFT140 FAM161A
33 fundus dystrophy 7.9 TTC8 TOPORS RP1L1 PRPF8 PCARE KCNJ13

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
reduced visual acuity
macular degeneration
high myopia
night blindness
more

Clinical features from OMIM®:

613464 (Updated 05-Apr-2021)

UMLS symptoms related to Retinitis Pigmentosa 51:


photophobia

MGI Mouse Phenotypes related to Retinitis Pigmentosa 51:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 ARL2BP C8orf37 FAM161A IDH3B IFT140 PCARE

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 12)
# Title Authors PMID Year
1
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51). 6 57 61
26195043 2016
2
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 57 6
20451172 2010
3
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. 6
25776555 2015
4
Functional Analysis and Genome Mining Reveal High Potential of Biocontrol and Plant Growth Promotion in Nodule-Inhabiting Bacteria Within Paenibacillus polymyxa Complex. 61
33537018 2020
5
Cloning and expression of 51-kDa antigenic protein of Neorickettsia risticii NR-JA1. 61
16481521 2005
6
Recombinant p51 as antigen in an immune complex transfer enzyme immunoassay of immunoglobulin G antibody to human immunodeficiency virus type 1. 61
11063508 2000
7
Coordinate expression of ribosomal protein genes in Neurospora crassa and identification of conserved upstream sequences. 61
1836561 1991
8
Effect of RP51 gene dosage alterations on ribosome synthesis in Saccharomyces cerevisiae. 61
3915776 1985
9
Posttranscriptional regulation and assembly into ribosomes of a Saccharomyces cerevisiae ribosomal protein-beta-galactosidase fusion. 61
3939318 1985
10
Two genes for ribosomal protein 51 of Saccharomyces cerevisiae complement and contribute to the ribosomes. 61
6092944 1984
11
Expression of a beta-galactosidase gene containing the ribosomal protein 51 intron is sensitive to the rna2 mutation of yeast. 61
6308621 1983
12
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 Position
1 TTC8 NM_144596.3(TTC8):c.115-2A>G SNV Pathogenic 2532 rs587777809 GRCh37: 14:89300035-89300035
GRCh38: 14:88833691-88833691
2 TTC8 NM_144596.4(TTC8):c.1347G>C (p.Gln449His) SNV Pathogenic 235131 rs876661403 GRCh37: 14:89338796-89338796
GRCh38: 14:88872452-88872452
3 TTC8 NM_144596.4(TTC8):c.489G>A (p.Thr163=) SNV Pathogenic 2530 rs119103286 GRCh37: 14:89307540-89307540
GRCh38: 14:88841196-88841196
4 TTC8 NM_144596.3(TTC8):c.265+1_265+2del Deletion Likely pathogenic 804470 rs1595939517 GRCh37: 14:89305917-89305918
GRCh38: 14:88839573-88839574
5 TTC8 NM_144596.4(TTC8):c.915del (p.Met305fs) Deletion Likely pathogenic 930561 GRCh37: 14:89336408-89336408
GRCh38: 14:88870064-88870064
6 TTC8 NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) SNV Uncertain significance 531831 rs140698625 GRCh37: 14:89338776-89338776
GRCh38: 14:88872432-88872432
7 TTC8 NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) SNV Uncertain significance 423070 rs755412340 GRCh37: 14:89337894-89337894
GRCh38: 14:88871550-88871550

Expression for Retinitis Pigmentosa 51

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

Pathways for Retinitis Pigmentosa 51

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 cytoskeleton GO:0005856 9.85 TTC8 RP1L1 IFT140 FAM161A ARL2BP
2 cell projection GO:0042995 9.8 TTC8 RP1L1 PCARE IFT140 FAM161A ARL2BP
3 centrosome GO:0005813 9.71 TTC8 IFT140 FAM161A ARL2BP
4 photoreceptor outer segment GO:0001750 9.54 RP1L1 PCARE IFT140
5 ciliary basal body GO:0036064 9.46 TTC8 TOPORS IFT140 FAM161A
6 non-motile cilium GO:0097730 9.43 TTC8 IFT140
7 photoreceptor inner segment GO:0001917 9.43 PCARE FAM161A C8orf37
8 cilium GO:0005929 9.43 TTC8 RP1L1 PCARE IFT140 FAM161A ARL2BP
9 photoreceptor connecting cilium GO:0032391 9.02 TTC8 TOPORS RP1L1 IFT140 FAM161A

Biological processes related to Retinitis Pigmentosa 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.5 TTC8 IFT140 FAM161A
2 visual perception GO:0007601 9.43 RP1L1 PCARE FAM161A
3 non-motile cilium assembly GO:1905515 9.37 TTC8 IFT140
4 cell projection organization GO:0030030 9.26 TTC8 RP1L1 IFT140 FAM161A
5 maintenance of protein location in nucleus GO:0051457 9.16 TOPORS ARL2BP
6 photoreceptor cell outer segment organization GO:0035845 8.8 TOPORS PCARE IFT140

Sources for Retinitis Pigmentosa 51

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