MCID: RTN159
MIFTS: 24

Retinitis Pigmentosa 45

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 45

MalaCards integrated aliases for Retinitis Pigmentosa 45:

Name: Retinitis Pigmentosa 45 57 12 75 29 13 6 15 73
Rp45 57 12 75
Retinitis Pigmentosa, Type 45 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood


HPO:

32
retinitis pigmentosa 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613767
Disease Ontology 12 DOID:0110402
ICD10 33 H35.5
MedGen 42 C3151066
MeSH 44 D012174
UMLS 73 C3151066

Summaries for Retinitis Pigmentosa 45

UniProtKB/Swiss-Prot : 75 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, retina and eye, and related phenotypes are rod-cone dystrophy and macular degeneration

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 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 9.9
2 leber congenital amaurosis 4 9.9
3 retinitis 9.9

Symptoms & Phenotypes for Retinitis Pigmentosa 45

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
night blindness
visual field constriction
bone-spicule pigmentary deposits in fundus
macular degeneration (in some patients)
severely reduced to nonrecordable electroretinograms


Clinical features from OMIM:

613767

Human phenotypes related to Retinitis Pigmentosa 45:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 macular degeneration 32 occasional (7.5%) HP:0000608
3 nyctalopia 32 HP:0000662
4 bone spicule pigmentation of the retina 32 HP:0007737
5 peripheral visual field loss 32 HP:0007994

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 29 CNGB1

Anatomical Context for Retinitis Pigmentosa 45

MalaCards organs/tissues related to Retinitis Pigmentosa 45:

41
Bone, Retina, Eye

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

Variations for Retinitis Pigmentosa 45

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

75
# 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 21)
# 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 CNGB1, IVS32DS, G-A, +1 single nucleotide variant Pathogenic
4 CNGB1 NM_001297.4(CNGB1): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic rs372504780 GRCh37 Chromosome 16, 57984367: 57984367
5 CNGB1 NM_001297.4(CNGB1): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic rs372504780 GRCh38 Chromosome 16, 57950463: 57950463
6 CNGB1 NM_001297.4(CNGB1): c.1122-15C> T single nucleotide variant Benign/Likely benign rs2303778 GRCh37 Chromosome 16, 57974240: 57974240
7 CNGB1 NM_001297.4(CNGB1): c.1122-15C> T single nucleotide variant Benign/Likely benign rs2303778 GRCh38 Chromosome 16, 57940336: 57940336
8 CNGB1 NM_001297.4(CNGB1): c.2370-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374373659 GRCh37 Chromosome 16, 57945788: 57945788
9 CNGB1 NM_001297.4(CNGB1): c.2370-9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs374373659 GRCh38 Chromosome 16, 57911884: 57911884
10 CNGB1 NM_001297.4(CNGB1): c.2556dupC (p.Lys853Glnfs) duplication Pathogenic rs797044693 GRCh37 Chromosome 16, 57938716: 57938716
11 CNGB1 NM_001297.4(CNGB1): c.2556dupC (p.Lys853Glnfs) duplication Pathogenic rs797044693 GRCh38 Chromosome 16, 57904812: 57904812
12 CNGB1 NM_001297.4(CNGB1): c.1589C> G (p.Pro530Arg) single nucleotide variant Uncertain significance rs201553871 GRCh38 Chromosome 16, 57923327: 57923327
13 CNGB1 NM_001297.4(CNGB1): c.1589C> G (p.Pro530Arg) single nucleotide variant Uncertain significance rs201553871 GRCh37 Chromosome 16, 57957231: 57957231
14 CNGB1 NM_001297.4(CNGB1): c.2128C> T (p.Gln710Ter) single nucleotide variant Pathogenic rs754786301 GRCh37 Chromosome 16, 57951210: 57951210
15 CNGB1 NM_001297.4(CNGB1): c.2128C> T (p.Gln710Ter) single nucleotide variant Pathogenic rs754786301 GRCh38 Chromosome 16, 57917306: 57917306
16 CNGB1 NM_001297.4(CNGB1): c.412+8C> A single nucleotide variant Conflicting interpretations of pathogenicity rs185727761 GRCh38 Chromosome 16, 57962834: 57962834
17 CNGB1 NM_001297.4(CNGB1): c.412+8C> A single nucleotide variant Conflicting interpretations of pathogenicity rs185727761 GRCh37 Chromosome 16, 57996738: 57996738
18 CNGB1 NM_001297.4(CNGB1): c.2893-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs749199721 GRCh38 Chromosome 16, 57901442: 57901442
19 CNGB1 NM_001297.4(CNGB1): c.2893-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs749199721 GRCh37 Chromosome 16, 57935346: 57935346
20 CNGB1 NM_001297.4(CNGB1): c.838-4G> T single nucleotide variant Conflicting interpretations of pathogenicity rs375539469 GRCh37 Chromosome 16, 57991285: 57991285
21 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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