RP49
MCID: RTN129
MIFTS: 38

Retinitis Pigmentosa 49 (RP49)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 49

MalaCards integrated aliases for Retinitis Pigmentosa 49:

Name: Retinitis Pigmentosa 49 57 12 72 29 13 6 15 70
Rp49 57 12 72
Retinitis Pigmentosa, Type 49 39

Characteristics:

HPO:

31
retinitis pigmentosa 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110377
OMIM® 57 613756
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3151059
UMLS 70 C3151059

Summaries for Retinitis Pigmentosa 49

UniProtKB/Swiss-Prot : 72 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 retinitis pigmentosa 45 and atrial septal defect 1. An important gene associated with Retinitis Pigmentosa 49 is CNGA1 (Cyclic Nucleotide Gated Channel Subunit Alpha 1), and among its related pathways/superpathways is PIWI-interacting RNA (piRNA) biogenesis. Affiliated tissues include retina, eye and bone, and related phenotypes are reduced visual acuity and nyctalopia

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

More information from OMIM: 613756 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 49 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 45 10.4 CNGB1 CNGA1
2 atrial septal defect 1 10.4 ELAVL4 ELAVL3 ELAVL2
3 achromatopsia 2 10.4 CNGB1 CNGA1
4 spermatogenic failure 11 10.4 ZBTB22 LGALS4
5 retinitis pigmentosa 29 10.4 CNGB1 CNGA1
6 dermatopathia pigmentosa reticularis 10.4 ZBTB22 LGALS4 H2AC18
7 eye degenerative disease 10.3 LGALS4 H2AC18 CNGB1 CNGA1
8 hyperinsulinemic hypoglycemia, familial, 4 10.3 TMEM97 LGALS4 ELAVL4 ELAVL2
9 hyperoxaluria, primary, type i 10.3 PIWIL4 PIWIL1 H2AC18
10 cartilage-hair hypoplasia 10.3 PIWIL4 PIWIL1 H2AC18
11 parasitic ectoparasitic infectious disease 10.3 PGLYRP1 HSPA4 H2AC18
12 wilson-turner x-linked mental retardation syndrome 10.3 TMEM97 LGALS4 H2AC18 CSF2RA
13 hypotrichosis 1 10.3 LGALS4 HSPA4 H2AC18
14 carbohydrate metabolic disorder 10.3 PIWIL4 PIWIL1 H2AC18
15 pontocerebellar hypoplasia, type 7 10.3 ELAVL4 ELAVL3
16 mucocutaneous leishmaniasis 10.3 HSPA4 H2AC18
17 primary hyperoxaluria 10.3 PIWIL4 PIWIL1 LGALS4 H2AC18
18 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.3 RPL32 LGALS4
19 actinomycosis 10.3 LGALS4 H2AC18
20 scalp-ear-nipple syndrome 10.2 LGALS4 ELAVL4 ELAVL3 ELAVL2 ELAVL1 CSF2RA
21 cone-rod dystrophy 6 10.2 ZBTB22 LGALS4 ELAVL4 ELAVL3 ELAVL2 CNGB1
22 pthirus pubis infestation 10.2 HSPA4 H2AC18
23 lice infestation 10.1 HSPA4 H2AC18
24 malaria 10.0
25 disease of mental health 9.9 TIMELESS PIWIL4 PIWIL1 LGALS4 HSPA4 H2AC18
26 retinitis pigmentosa 9.3 ZBTB22 TREH TMEM97 TIMELESS SHKBP1 RPL32

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 49:



Diseases related to Retinitis Pigmentosa 49

Symptoms & Phenotypes for Retinitis Pigmentosa 49

Human phenotypes related to Retinitis Pigmentosa 49:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 very rare (1%) HP:0007663
2 nyctalopia 31 very rare (1%) HP:0000662
3 optic disc pallor 31 very rare (1%) HP:0000543
4 peripheral visual field loss 31 very rare (1%) HP:0007994
5 attenuation of retinal blood vessels 31 very rare (1%) HP:0007843
6 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
7 rod-cone dystrophy 31 HP:0000510

Clinical features from OMIM®:

613756 (Updated 05-Apr-2021)

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 29 CNGA1

Anatomical Context for Retinitis Pigmentosa 49

MalaCards organs/tissues related to Retinitis Pigmentosa 49:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 49

Articles related to Retinitis Pigmentosa 49:

(show all 42)
# Title Authors PMID Year
1
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. 6 57
7479749 1995
2
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. 6
25268133 2014
3
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. 6
23462753 2013
4
Evaluation of Reference Genes and Age Estimation of Forensically Useful Aldrichina grahami (Diptera: Calliphoridae) During Intrapuparial Period. 61
32700732 2021
5
Gene expression as age estimation marker in the larval stages of the forensic blowfly, Chrysomya albiceps, at different temperatures. 61
33302096 2021
6
Sexual-biased gene expression of olfactory-related genes in the antennae of Conogethes pinicolalis (Lepidoptera: Crambidae). 61
32188403 2020
7
Evaluation of Appropriate Reference Genes For Investigating Gene Expression in Chlorops oryzae (Diptera: Chloropidae). 61
31145453 2019
8
Reference gene selection for quantitative gene expression analysis in black soldier fly (Hermetia illucens). 61
31419256 2019
9
Reference gene selection for RT-qPCR analysis in Harmonia axyridis, a global invasive lady beetle. 61
29426915 2018
10
Validation of quantitative real-time PCR reference genes for the determination of seasonal and labor-specific gene expression profiles in the head of Western honey bee, Apis mellifera. 61
29985960 2018
11
The lysosomal membrane protein LAMP2A promotes autophagic flux and prevents SNCA-induced Parkinson disease-like symptoms in the Drosophila brain. 61
29989488 2018
12
Selection of Reference Genes for Expression Studies of Xenobiotic Adaptation in Tetranychus urticae. 61
27570487 2016
13
Stably expressed housekeeping genes across developmental stages in the two-spotted spider mite, Tetranychus urticae. 61
25822495 2015
14
Selection of Reference Genes for RT-qPCR Analysis in the Monarch Butterfly, Danaus plexippus (L.), a Migrating Bio-Indicator. 61
26030778 2015
15
Selection and assessment of reference genes for quantitative PCR normalization in migratory locust Locusta migratoria (Orthoptera: Acrididae). 61
24887329 2014
16
Selection and validation of reference genes for functional studies in the Calliphoridae family. 61
25373149 2014
17
Validation of reference genes for quantitative expression analysis by real-time rt-PCR in four lepidopteran insects. 61
22938136 2012
18
Trehalase-2 protein contributes to trehalase activity enhanced by diapause hormone in developing ovaries of the silkworm, Bombyx mori. 61
20965194 2011
19
Microarray analysis of juvenile hormone response in Drosophila melanogaster S2 cells. 61
20672983 2010
20
Cell cycle arrest as a hallmark of insect diapause: changes in gene transcription during diapause induction in the drosophilid fly, Chymomyza costata. 61
19879357 2009
21
Identification and validation of housekeeping genes in brains of the desert locust Schistocerca gregaria under different developmental conditions. 61
19508726 2009
22
Isolation of a fragment homologous to the rp49 constitutive gene of Drosophila in the Neotropical malaria vector Anopheles aquasalis (Diptera: Culicidae). 61
16302065 2005
23
DNA variation at the rp49 gene region of Drosophila simulans: evolutionary inferences from an unusual haplotype structure. 61
11454763 2001
24
Nucleotide variation at the yellow gene region is not reduced in Drosophila subobscura: a study in relation to chromosomal polymorphism. 61
11110911 2000
25
Increased hsp22 RNA levels in Drosophila lines genetically selected for increased longevity. 61
11078089 2000
26
A long-term study on seasonal changes of gametic disequilibrium between allozymes and inversions in Drosophila subobscura. 61
11108594 2000
27
Molecular population genetics of the rp49 gene region in different chromosomal inversions of Drosophila subobscura. 61
9872959 1999
28
Molecular and chromosomal phylogeny in the obscura group of Drosophila inferred from sequences of the rp49 gene region. 61
9479691 1998
29
The estimation of the number and the length distribution of gene conversion tracts from population DNA sequence data. 61
9136003 1997
30
Control of Drosophila opsin gene expression by carotenoids and retinoic acid: northern and western analyses. 61
8994352 1996
31
Differentiation of Muller's chromosomal elements D and E in the obscura group of Drosophila. 61
8878680 1996
32
Gene conversion is involved in the transfer of genetic information between naturally occurring inversions of Drosophila. 61
7972094 1994
33
The Drosophila stubarista phenotype is associated with a dosage effect of the putative ribosome-associated protein D-p40 on spineless. 61
7916731 1993
34
Transfer of genetic information in the rp49 region of Drosophila subobscura between different chromosomal gene arrangements. 61
8367467 1993
35
Nucleotide divergence of the rp49 gene region between Drosophila melanogaster and two species of the Obscura group of Drosophila. 61
8483162 1993
36
Generation of Minute phenotypes by a transformed antisense ribosomal protein gene. 61
1291154 1992
37
Evidence of extensive genetic exchange in the rp49 region among polymorphic chromosome inversions in Drosophila subobscura. 61
2123162 1990
38
Overproduction and translational regulation of rp49 ribosomal protein mRNA in transgenic Drosophila carrying extra copies of the gene. 61
2370846 1990
39
Nucleotide sequence comparison of the rp49 gene region between Drosophila subobscura and D. melanogaster. 61
3136296 1988
40
A Drosophila Minute gene encodes a ribosomal protein. 61
4047173 1985
41
Sequence, structure, and codon preference of the Drosophila ribosomal protein 49 gene. 61
6087289 1984
42
Drosophila maternal and embryo mRNAs transcribed from a single transcription unit use alternate combinations of exons. 61
6329730 1984

Variations for Retinitis Pigmentosa 49

ClinVar genetic disease variations for Retinitis Pigmentosa 49:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.238G>T (p.Glu80Ter) SNV Pathogenic 16930 rs121909599 GRCh37: 4:47951911-47951911
GRCh38: 4:47949894-47949894
2 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.427A>T (p.Lys143Ter) SNV Pathogenic 16931 rs121909600 GRCh37: 4:47945220-47945220
GRCh38: 4:47943203-47943203
3 CNGA1 CNGA1, 1-BP DEL, FS655TER Deletion Pathogenic 16933 GRCh37:
GRCh38:
4 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.191del (p.Gly64fs) Deletion Pathogenic 143099 rs527236058 GRCh37: 4:47953415-47953415
GRCh38: 4:47951398-47951398
5 CNGA1 , LOC101927157 NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs) Duplication Pathogenic 850020 GRCh37: 4:47939171-47939172
GRCh38: 4:47937154-47937155
6 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.959C>T (p.Ser320Phe) SNV Pathogenic 16932 rs62625014 GRCh37: 4:47939552-47939552
GRCh38: 4:47937535-47937535
7 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.959C>T (p.Ser320Phe) SNV Pathogenic 16932 rs62625014 GRCh37: 4:47939552-47939552
GRCh38: 4:47937535-47937535
8 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.265del (p.Leu89fs) Deletion Pathogenic 225315 rs749012133 GRCh37: 4:47951884-47951884
GRCh38: 4:47949867-47949867
9 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.94C>T (p.Arg32Ter) SNV Pathogenic 548707 rs199636364 GRCh37: 4:47954625-47954625
GRCh38: 4:47952608-47952608
10 CNGA1 , LOC101927157 NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter) SNV Pathogenic 972420 GRCh37: 4:47938626-47938626
GRCh38: 4:47936609-47936609
11 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.1271G>A (p.Arg424Gln) SNV Uncertain significance 225316 rs192912733 GRCh37: 4:47939240-47939240
GRCh38: 4:47937223-47937223
12 CNGB1 NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) SNV Uncertain significance 209979 rs201553871 GRCh37: 16:57957231-57957231
GRCh38: 16:57923327-57923327
13 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.774G>A (p.Leu258=) SNV Likely benign 811596 rs374697239 GRCh37: 4:47939737-47939737
GRCh38: 4:47937720-47937720
14 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.870A>G (p.Thr290=) SNV Likely benign 811597 rs533594644 GRCh37: 4:47939641-47939641
GRCh38: 4:47937624-47937624
15 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.312A>G (p.Glu104=) SNV Benign 198390 rs76061451 GRCh37: 4:47945417-47945417
GRCh38: 4:47943400-47943400

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

72
# Symbol AA change Variation ID SNP ID
1 CNGA1 p.Ser320Phe VAR_009297 rs62625014

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 10.09 PIWIL4 PIWIL1

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 P granule GO:0043186 8.96 PIWIL4 PIWIL1
2 ribonucleoprotein complex GO:1990904 8.92 ELAVL4 ELAVL3 ELAVL2 ELAVL1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of rhodopsin mediated signaling pathway GO:0022400 9.32 CNGB1 CNGA1
2 negative regulation of transposition GO:0010529 9.26 PIWIL4 PIWIL1
3 3'-UTR-mediated mRNA stabilization GO:0070935 9.16 ELAVL4 ELAVL1
4 piRNA metabolic process GO:0034587 8.96 PIWIL4 PIWIL1
5 rhodopsin mediated signaling pathway GO:0016056 8.62 CNGB1 CNGA1

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.98 RPL32 PIWIL4 PIWIL1 ELAVL4 ELAVL3 ELAVL2
2 nucleic acid binding GO:0003676 9.88 PIWIL4 PIWIL1 ELAVL4 ELAVL3 ELAVL2 ELAVL1
3 cGMP binding GO:0030553 9.37 CNGB1 CNGA1
4 intracellular cAMP-activated cation channel activity GO:0005222 9.32 CNGB1 CNGA1
5 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGB1 CNGA1
6 piRNA binding GO:0034584 9.16 PIWIL4 PIWIL1
7 intracellular cyclic nucleotide activated cation channel activity GO:0005221 8.96 CNGB1 CNGA1
8 mRNA 3'-UTR AU-rich region binding GO:0035925 8.8 ELAVL4 ELAVL3 ELAVL1

Sources for Retinitis Pigmentosa 49

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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