RP49
MCID: RTN129
MIFTS: 31

Retinitis Pigmentosa 49 (RP49)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 49

MalaCards integrated aliases for Retinitis Pigmentosa 49:

Name: Retinitis Pigmentosa 49 58 12 76 30 13 6 15 74
Rp49 58 12 76
Retinitis Pigmentosa, Type 49 41

Characteristics:

HPO:

33
retinitis pigmentosa 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110377
OMIM 58 613756
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3151059
SNOMED-CT via HPO 70 258211005 28835009
UMLS 74 C3151059

Summaries for Retinitis Pigmentosa 49

UniProtKB/Swiss-Prot : 76 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 malaria and undetermined early-onset epileptic encephalopathy. An important gene associated with Retinitis Pigmentosa 49 is CNGA1 (Cyclic Nucleotide Gated Channel Alpha 1), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include eye, and related phenotype is rod-cone dystrophy.

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
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 malaria 10.1
2 undetermined early-onset epileptic encephalopathy 9.7 ATP6V1A EEF1A2
3 baylisascariasis 9.7 ATP6V1A GAPDH
4 legionellosis 9.7 EEF1A2 HBS1L

Symptoms & Phenotypes for Retinitis Pigmentosa 49

Human phenotypes related to Retinitis Pigmentosa 49:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510

Clinical features from OMIM:

613756

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 30 CNGA1

Anatomical Context for Retinitis Pigmentosa 49

MalaCards organs/tissues related to Retinitis Pigmentosa 49:

42
Eye

Publications for Retinitis Pigmentosa 49

Articles related to Retinitis Pigmentosa 49:

# Title Authors Year
1
Isolation of a fragment homologous to the rp49 constitutive gene of Drosophila in the Neotropical malaria vector Anopheles aquasalis (Diptera: Culicidae). ( 16302065 )
2005
2
DNA variation at the rp49 gene region of Drosophila simulans: evolutionary inferences from an unusual haplotype structure. ( 11454763 )
2001
3
Molecular population genetics of the rp49 gene region in different chromosomal inversions of Drosophila subobscura. ( 9872959 )
1999
4
Molecular and chromosomal phylogeny in the obscura group of Drosophila inferred from sequences of the rp49 gene region. ( 9479691 )
1998
5
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. ( 7479749 )
1995
6
Transfer of genetic information in the rp49 region of Drosophila subobscura between different chromosomal gene arrangements. ( 8367467 )
1993
7
Nucleotide divergence of the rp49 gene region between Drosophila melanogaster and two species of the Obscura group of Drosophila. ( 8483162 )
1993
8
Evidence of extensive genetic exchange in the rp49 region among polymorphic chromosome inversions in Drosophila subobscura. ( 2123162 )
1990
9
Overproduction and translational regulation of rp49 ribosomal protein mRNA in transgenic Drosophila carrying extra copies of the gene. ( 2370846 )
1990
10
Nucleotide sequence comparison of the rp49 gene region between Drosophila subobscura and D. melanogaster. ( 3136296 )
1988

Variations for Retinitis Pigmentosa 49

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

76
# Symbol AA change Variation ID SNP ID
1 CNGA1 p.Ser320Phe VAR_009297 rs62625014

ClinVar genetic disease variations for Retinitis Pigmentosa 49:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGA1 NM_001142564.1(CNGA1): c.445G> T (p.Glu149Ter) single nucleotide variant Pathogenic rs121909599 GRCh38 Chromosome 4, 47949894: 47949894
2 CNGA1 NM_001142564.1(CNGA1): c.634A> T (p.Lys212Ter) single nucleotide variant Pathogenic rs121909600 GRCh37 Chromosome 4, 47945220: 47945220
3 CNGA1 NM_001142564.1(CNGA1): c.634A> T (p.Lys212Ter) single nucleotide variant Pathogenic rs121909600 GRCh38 Chromosome 4, 47943203: 47943203
4 CNGA1 NM_001142564.1(CNGA1): c.445G> T (p.Glu149Ter) single nucleotide variant Pathogenic rs121909599 GRCh37 Chromosome 4, 47951911: 47951911
5 CNGA1 NM_000087.3(CNGA1): c.959C> T (p.Ser320Phe) single nucleotide variant Pathogenic rs62625014 GRCh37 Chromosome 4, 47939552: 47939552
6 CNGA1 NM_000087.3(CNGA1): c.959C> T (p.Ser320Phe) single nucleotide variant Pathogenic rs62625014 GRCh38 Chromosome 4, 47937535: 47937535
7 CNGA1 CNGA1, 1-BP DEL, FS655TER deletion Pathogenic
8 CNGA1 NM_001142564.1(CNGA1): c.398delG (p.Gly133Valfs) deletion Pathogenic rs527236058 GRCh37 Chromosome 4, 47953415: 47953415
9 CNGA1 NM_001142564.1(CNGA1): c.398delG (p.Gly133Valfs) deletion Pathogenic rs527236058 GRCh38 Chromosome 4, 47951398: 47951398
10 CNGB1 NM_001297.4(CNGB1): c.1589C> G (p.Pro530Arg) single nucleotide variant Uncertain significance rs201553871 GRCh38 Chromosome 16, 57923327: 57923327
11 CNGB1 NM_001297.4(CNGB1): c.1589C> G (p.Pro530Arg) single nucleotide variant Uncertain significance rs201553871 GRCh37 Chromosome 16, 57957231: 57957231
12 CNGA1 NM_000087.3(CNGA1): c.1271G> A (p.Arg424Gln) single nucleotide variant Uncertain significance rs192912733 GRCh37 Chromosome 4, 47939240: 47939240
13 CNGA1 NM_000087.3(CNGA1): c.1271G> A (p.Arg424Gln) single nucleotide variant Uncertain significance rs192912733 GRCh38 Chromosome 4, 47937223: 47937223
14 CNGA1 NM_000087.3(CNGA1): c.265delC (p.Leu89Phefs) deletion Pathogenic rs749012133 GRCh38 Chromosome 4, 47949867: 47949867
15 CNGA1 NM_000087.3(CNGA1): c.265delC (p.Leu89Phefs) deletion Pathogenic rs749012133 GRCh37 Chromosome 4, 47951884: 47951884
16 CNGA1 NM_001142564.1(CNGA1): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs199636364 GRCh37 Chromosome 4, 47954625: 47954625
17 CNGA1 NM_001142564.1(CNGA1): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs199636364 GRCh38 Chromosome 4, 47952608: 47952608

Expression for Retinitis Pigmentosa 49

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

Pathways for Retinitis Pigmentosa 49

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 photoreceptor outer segment GO:0001750 8.62 CNGA1 CNGB1

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.54 ATP6V1A CNGA1 CNGB1
2 regulation of macroautophagy GO:0016241 9.32 ATP6V1A GAPDH
3 cation transmembrane transport GO:0098655 9.26 CNGA1 CNGB1
4 translational elongation GO:0006414 9.16 EEF1A2 HBS1L
5 regulation of rhodopsin mediated signaling pathway GO:0022400 8.96 CNGA1 CNGB1
6 rhodopsin mediated signaling pathway GO:0016056 8.62 CNGA1 CNGB1

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 9.32 EEF1A2 HBS1L
2 cGMP binding GO:0030553 9.26 CNGA1 CNGB1
3 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGA1 CNGB1
4 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGA1 CNGB1
5 intracellular cyclic nucleotide activated cation channel activity GO:0005221 8.62 CNGA1 CNGB1

Sources for Retinitis Pigmentosa 49

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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