MCID: RTN159
MIFTS: 24

Retinitis Pigmentosa 45

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 45

MalaCards integrated aliases for Retinitis Pigmentosa 45:

Name: Retinitis Pigmentosa 45 53 12 71 28 13 14 69
Rp45 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in early childhood


HPO:

31
retinitis pigmentosa 45:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613767
Disease Ontology 12 DOID:0110402
ICD10 32 H35.5
MedGen 39 C3151066
MeSH 41 D012174
UMLS 69 C3151066

Summaries for Retinitis Pigmentosa 45

UniProtKB/Swiss-Prot : 71 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, and has symptoms including nyctalopia, macular degeneration and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 45 is CNGB1 (Cyclic Nucleotide Gated Channel Beta 1). Affiliated tissues include bone, eye and retina.

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 macular degeneration 31 occasional (7.5%) HP:0000608
3 rod-cone dystrophy 31 HP:0000510
4 peripheral visual field loss 31 HP:0007994
5 bone spicule pigmentation of the retina 31 HP:0007737

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 28 CNGB1

Anatomical Context for Retinitis Pigmentosa 45

MalaCards organs/tissues related to Retinitis Pigmentosa 45:

38
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

Variations for Retinitis Pigmentosa 45

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

71
# Symbol AA change Variation ID SNP ID
1 CNGB1 p.Gly993Val VAR_060491 rs121918532

ClinVar genetic disease variations for Retinitis Pigmentosa 45:

6
# 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 CNGB1, IVS32DS, G-A, +1 single nucleotide variant Pathogenic
3 CNGB1 NM_001297.4(CNGB1): c.952C> T (p.Gln318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs372504780 GRCh37 Chromosome 16, 57984367: 57984367
4 CNGB1 NM_001297.4(CNGB1): c.2556dupC (p.Lys853Glnfs) duplication Pathogenic rs797044693 GRCh37 Chromosome 16, 57938716: 57938716
5 CNGB1 NM_001297.4(CNGB1): c.2128C> T (p.Gln710Ter) single nucleotide variant Pathogenic rs754786301 GRCh37 Chromosome 16, 57951210: 57951210

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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