RP61
MCID: RTN144
MIFTS: 34

Retinitis Pigmentosa 61 (RP61)

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

Aliases & Classifications for Retinitis Pigmentosa 61

MalaCards integrated aliases for Retinitis Pigmentosa 61:

Name: Retinitis Pigmentosa 61 56 12 73 29 13 6 15 71
Rp61 56 12 73
Retinitis Pigmentosa, Type 61 39

Characteristics:

HPO:

31
retinitis pigmentosa 61:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110373
OMIM 56 614180
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3280041
UMLS 71 C3280041

Summaries for Retinitis Pigmentosa 61

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 61: 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 61, also known as rp61, is related to rapadilino syndrome and retinitis pigmentosa 22. An important gene associated with Retinitis Pigmentosa 61 is CLRN1 (Clarin 1), and among its related pathways/superpathways are Antigen processing-Cross presentation and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. Affiliated tissues include retina, eye and bone, and related phenotypes are visual impairment and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CLRN1 gene on chromosome 3q25.

More information from OMIM: 614180 PS268000

Related Diseases for Retinitis Pigmentosa 61

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 61 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 rapadilino syndrome 10.2 UBR2 UBR1
2 retinitis pigmentosa 22 10.1 PRKG1 CDHR1
3 localized pulmonary fibrosis 9.9 PSMD5 PSMD4
4 ciliary dyskinesia, primary, 10 9.9 PSMD5 PSMD4
5 ophthalmia nodosa 9.8 PSMD5 PSMD4
6 congenital disorder of glycosylation, type il 9.8 PSMD5 PSMD4
7 myasthenic syndrome, congenital, 21, presynaptic 9.8 PSMD5 PSMD4
8 submandibular gland cancer 9.7 HSPA4 HSP90AA1
9 retinitis pigmentosa 23 9.6 PSMD5 PSMD4 PRKG1
10 cholera 9.6 SEC61A1 PSMD4 P4HB
11 kaufman oculocerebrofacial syndrome 9.6 PSMD5 PSMD4 PRKG1
12 ciliary dyskinesia, primary, 9 9.6 PSMD5 PSMD4
13 kagami-ogata syndrome 9.6 PSMD5 PSMD4 PRKG1
14 hypotrichosis 1 9.5 PSMD5 PSMD4 HSP90AA1
15 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 9.4 PSMD5 PSMD4
16 leukemia, acute myeloid 8.6 XPO1 TCHP PSMD5 PSMD4 HSP90AA1
17 retinitis pigmentosa 7.9 PSMD5 PSMD4 PRKG1 PHGDH HSPA4 HSP90AA1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 61:



Diseases related to Retinitis Pigmentosa 61

Symptoms & Phenotypes for Retinitis Pigmentosa 61

Human phenotypes related to Retinitis Pigmentosa 61:

31 (show all 6)
# 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 attenuation of retinal blood vessels 31 HP:0007843
5 bone spicule pigmentation of the retina 31 HP:0007737
6 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

Clinical features from OMIM:

614180

Drugs & Therapeutics for Retinitis Pigmentosa 61

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 61

Genetic Tests for Retinitis Pigmentosa 61

Genetic tests related to Retinitis Pigmentosa 61:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 61 29 CLRN1

Anatomical Context for Retinitis Pigmentosa 61

MalaCards organs/tissues related to Retinitis Pigmentosa 61:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 61

Articles related to Retinitis Pigmentosa 61:

# Title Authors PMID Year
1
CLRN1 mutations cause nonsyndromic retinitis pigmentosa. 56 6
21310491 2011
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000

Variations for Retinitis Pigmentosa 61

ClinVar genetic disease variations for Retinitis Pigmentosa 61:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLRN1 NM_052995.2(CLRN1):c.233T>G (p.Leu78Trp)SNV Pathogenic 30574 rs775098953 3:150645961-150645961 3:150928174-150928174
2 CLRN1 NM_001195794.1(CLRN1):c.92C>T (p.Pro31Leu)SNV Pathogenic 30575 rs374390376 3:150690404-150690404 3:150972617-150972617

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 61:

73
# Symbol AA change Variation ID SNP ID
1 CLRN1 p.Pro31Leu VAR_066673 rs374390376
2 CLRN1 p.Leu154Trp VAR_066674 rs775098953

Expression for Retinitis Pigmentosa 61

Search GEO for disease gene expression data for Retinitis Pigmentosa 61.

Pathways for Retinitis Pigmentosa 61

GO Terms for Retinitis Pigmentosa 61

Cellular components related to Retinitis Pigmentosa 61 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.5 XPO1 UBR2 UBR1 TCHP STIP1 SEC61A1
2 proteasome accessory complex GO:0022624 9.26 PSMD5 PSMD4
3 proteasome regulatory particle, base subcomplex GO:0008540 9.16 PSMD5 PSMD4
4 proteasome complex GO:0000502 9.13 UBR1 PSMD5 PSMD4

Biological processes related to Retinitis Pigmentosa 61 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of mRNA stability GO:0043488 9.58 XPO1 PSMD5 PSMD4
2 chaperone-mediated protein complex assembly GO:0051131 9.43 HSPA4 HSP90AA1
3 cellular response to interleukin-7 GO:0098761 9.37 STIP1 P4HB
4 proteasome assembly GO:0043248 9.32 PSMD5 PSMD4
5 cellular response to leucine GO:0071233 9.26 UBR2 UBR1
6 protein import into mitochondrial outer membrane GO:0045040 9.16 HSPA4 HSP90AA1
7 photoreceptor cell morphogenesis GO:0008594 8.96 CDHR1 C8orf37
8 ubiquitin-dependent protein catabolic process via the N-end rule pathway GO:0071596 8.62 UBR2 UBR1

Molecular functions related to Retinitis Pigmentosa 61 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 XPO1 UBR2 UBR1 TCHP STIP1 SF3A1
2 leucine binding GO:0070728 8.62 UBR2 UBR1

Sources for Retinitis Pigmentosa 61

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
Content
Loading form....