MCID: RTN129
MIFTS: 24

Retinitis Pigmentosa 49

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 49

MalaCards integrated aliases for Retinitis Pigmentosa 49:

Name: Retinitis Pigmentosa 49 53 12 71 28 13 14 69
Rp49 53 12 71

Characteristics:

HPO:

31
retinitis pigmentosa 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613756
Disease Ontology 12 DOID:0110377
ICD10 32 H35.5
MedGen 39 C3151059
MeSH 41 D012174
SNOMED-CT via HPO 65 258211005 28835009
UMLS 69 C3151059

Summaries for Retinitis Pigmentosa 49

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 49: 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 49, also known as rp49, is related to legionellosis, and has symptoms including rod-cone dystrophy An important gene associated with Retinitis Pigmentosa 49 is CNGA1 (Cyclic Nucleotide Gated Channel Alpha 1), and among its related pathways/superpathways is Legionellosis. Affiliated tissues include eye, and related phenotype is Increased viability.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CNGA1 gene on chromosome 4p12.

Description from OMIM: 613756

Related Diseases for Retinitis Pigmentosa 49

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

# Related Disease Score Top Affiliating Genes
1 legionellosis 9.4 EEF1A2 HBS1L

Symptoms & Phenotypes for Retinitis Pigmentosa 49

Clinical features from OMIM:

613756

Human phenotypes related to Retinitis Pigmentosa 49:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 49 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 9.02 ATP6V1A CNGA1 HBS1L RPS17 TREH

Drugs & Therapeutics for Retinitis Pigmentosa 49

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 49

Genetic Tests for Retinitis Pigmentosa 49

Genetic tests related to Retinitis Pigmentosa 49:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 49 28 CNGA1

Anatomical Context for Retinitis Pigmentosa 49

MalaCards organs/tissues related to Retinitis Pigmentosa 49:

38
Eye

Publications for Retinitis Pigmentosa 49

Variations for Retinitis Pigmentosa 49

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 49:

71
# Symbol AA change Variation ID SNP ID
1 CNGA1 p.Ser320Phe VAR_009297 rs62625014

ClinVar genetic disease variations for Retinitis Pigmentosa 49:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGA1 NM_001142564.1(CNGA1): c.445G> T (p.Glu149Ter) single nucleotide variant Pathogenic rs121909599 GRCh37 Chromosome 4, 47951911: 47951911
2 CNGA1 NM_001142564.1(CNGA1): c.634A> T (p.Lys212Ter) single nucleotide variant Pathogenic rs121909600 GRCh37 Chromosome 4, 47945220: 47945220
3 CNGA1 NM_000087.3(CNGA1): c.959C> T (p.Ser320Phe) single nucleotide variant Pathogenic rs62625014 GRCh37 Chromosome 4, 47939552: 47939552
4 CNGA1 CNGA1, 1-BP DEL, FS655TER deletion Pathogenic
5 CNGA1 NM_001142564.1(CNGA1): c.398delG (p.Gly133Valfs) deletion Pathogenic/Likely pathogenic rs527236058 GRCh37 Chromosome 4, 47953415: 47953415
6 CNGA1 NM_000087.3(CNGA1): c.265delC (p.Leu89Phefs) deletion Pathogenic rs749012133 GRCh38 Chromosome 4, 47949867: 47949867

Expression for Retinitis Pigmentosa 49

Search GEO for disease gene expression data for Retinitis Pigmentosa 49.

Pathways for Retinitis Pigmentosa 49

Pathways related to Retinitis Pigmentosa 49 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.36 EEF1A2 HBS1L

GO Terms for Retinitis Pigmentosa 49

Cellular components related to Retinitis Pigmentosa 49 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelin sheath GO:0043209 8.62 ATP6V1A EEF1A2

Biological processes related to Retinitis Pigmentosa 49 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.13 EEF1A2 HBS1L RPS17
2 translational elongation GO:0006414 8.62 EEF1A2 HBS1L

Molecular functions related to Retinitis Pigmentosa 49 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation elongation factor activity GO:0003746 8.62 EEF1A2 HBS1L

Sources for Retinitis Pigmentosa 49

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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