RP45
MCID: RTN159
MIFTS: 25

Retinitis Pigmentosa 45 (RP45)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 45

MalaCards integrated aliases for Retinitis Pigmentosa 45:

Name: Retinitis Pigmentosa 45 58 12 76 30 13 6 15 74
Rp45 58 12 76
Retinitis Pigmentosa, Type 45 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood


HPO:

33
retinitis pigmentosa 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110402
OMIM 58 613767
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3151066
UMLS 74 C3151066

Summaries for Retinitis Pigmentosa 45

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 45: 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 45, also known as rp45, is related to retinitis pigmentosa and leber congenital amaurosis 4. An important gene associated with Retinitis Pigmentosa 45 is CNGB1 (Cyclic Nucleotide Gated Channel Beta 1). Affiliated tissues include bone, eye and retina, and related phenotypes are macular degeneration and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CNGB1 gene on chromosome 16q13.

Description from OMIM: 613767

Related Diseases for Retinitis Pigmentosa 45

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 45 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.0
2 leber congenital amaurosis 4 10.0
3 retinitis 10.0

Symptoms & Phenotypes for Retinitis Pigmentosa 45

Human phenotypes related to Retinitis Pigmentosa 45:

33
# Description HPO Frequency HPO Source Accession
1 macular degeneration 33 occasional (7.5%) HP:0000608
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 peripheral visual field loss 33 HP:0007994
5 bone spicule pigmentation of the retina 33 HP:0007737

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
night blindness
visual field constriction
severely reduced to nonrecordable electroretinograms
macular degeneration (in some patients)
bone-spicule pigmentary deposits in fundus

Clinical features from OMIM:

613767

Drugs & Therapeutics for Retinitis Pigmentosa 45

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 45

Genetic Tests for Retinitis Pigmentosa 45

Genetic tests related to Retinitis Pigmentosa 45:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 45 30 CNGB1

Anatomical Context for Retinitis Pigmentosa 45

MalaCards organs/tissues related to Retinitis Pigmentosa 45:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 45

Articles related to Retinitis Pigmentosa 45:

# Title Authors Year
1
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. ( 26901671 )
2016
2
Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. ( 23661369 )
2013
3
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. ( 15557452 )
2004
4
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. ( 11379879 )
2001

Variations for Retinitis Pigmentosa 45

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 45:

76
# Symbol AA change Variation ID SNP ID
1 CNGB1 p.Gly993Val VAR_060491 rs121918532

ClinVar genetic disease variations for Retinitis Pigmentosa 45:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGB1 NM_001297.4(CNGB1): c.2978G> T (p.Gly993Val) single nucleotide variant Pathogenic rs121918532 GRCh37 Chromosome 16, 57931817: 57931817
2 CNGB1 NM_001297.4(CNGB1): c.2978G> T (p.Gly993Val) single nucleotide variant Pathogenic rs121918532 GRCh38 Chromosome 16, 57897913: 57897913
3 CNGB1 NM_001297.4(CNGB1): c.3462+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 57887854: 57887854
4 CNGB1 NM_001297.4(CNGB1): c.3462+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 57921758: 57921758
5 CNGB1 NM_001297.4(CNGB1): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic rs372504780 GRCh37 Chromosome 16, 57984367: 57984367
6 CNGB1 NM_001297.4(CNGB1): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic rs372504780 GRCh38 Chromosome 16, 57950463: 57950463
7 CNGB1 NM_001297.4(CNGB1): c.1122-15C> T single nucleotide variant Benign/Likely benign rs2303778 GRCh37 Chromosome 16, 57974240: 57974240
8 CNGB1 NM_001297.4(CNGB1): c.1122-15C> T single nucleotide variant Benign/Likely benign rs2303778 GRCh38 Chromosome 16, 57940336: 57940336
9 CNGB1 NM_001297.4(CNGB1): c.2370-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374373659 GRCh37 Chromosome 16, 57945788: 57945788
10 CNGB1 NM_001297.4(CNGB1): c.2370-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374373659 GRCh38 Chromosome 16, 57911884: 57911884
11 CNGB1 NM_001297.4(CNGB1): c.2556dupC (p.Lys853Glnfs) duplication Pathogenic rs797044693 GRCh37 Chromosome 16, 57938716: 57938716
12 CNGB1 NM_001297.4(CNGB1): c.2556dupC (p.Lys853Glnfs) duplication Pathogenic rs797044693 GRCh38 Chromosome 16, 57904812: 57904812
13 CNGB1 NM_001297.4(CNGB1): c.1589C> G (p.Pro530Arg) single nucleotide variant Uncertain significance rs201553871 GRCh38 Chromosome 16, 57923327: 57923327
14 CNGB1 NM_001297.4(CNGB1): c.1589C> G (p.Pro530Arg) single nucleotide variant Uncertain significance rs201553871 GRCh37 Chromosome 16, 57957231: 57957231
15 CNGB1 NM_001297.4(CNGB1): c.412+8C> A single nucleotide variant Conflicting interpretations of pathogenicity rs185727761 GRCh38 Chromosome 16, 57962834: 57962834
16 CNGB1 NM_001297.4(CNGB1): c.412+8C> A single nucleotide variant Conflicting interpretations of pathogenicity rs185727761 GRCh37 Chromosome 16, 57996738: 57996738
17 CNGB1 NM_001297.4(CNGB1): c.2893-7G> A single nucleotide variant Uncertain significance rs749199721 GRCh38 Chromosome 16, 57901442: 57901442
18 CNGB1 NM_001297.4(CNGB1): c.2893-7G> A single nucleotide variant Uncertain significance rs749199721 GRCh37 Chromosome 16, 57935346: 57935346
19 CNGB1 NM_001297.4(CNGB1): c.413-1G> A single nucleotide variant Pathogenic rs189234741 GRCh37 Chromosome 16, 57996515: 57996515
20 CNGB1 NM_001297.4(CNGB1): c.413-1G> A single nucleotide variant Pathogenic rs189234741 GRCh38 Chromosome 16, 57962611: 57962611
21 CNGB1 NM_001297.4(CNGB1): c.838-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs375539469 GRCh37 Chromosome 16, 57991285: 57991285
22 CNGB1 NM_001297.4(CNGB1): c.838-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs375539469 GRCh38 Chromosome 16, 57957381: 57957381

Expression for Retinitis Pigmentosa 45

Search GEO for disease gene expression data for Retinitis Pigmentosa 45.

Pathways for Retinitis Pigmentosa 45

GO Terms for Retinitis Pigmentosa 45

Sources for Retinitis Pigmentosa 45

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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