MCID: RTN129
MIFTS: 27

Retinitis Pigmentosa 49

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 49

MalaCards integrated aliases for Retinitis Pigmentosa 49:

Name: Retinitis Pigmentosa 49 57 12 75 29 13 6 15 73
Rp49 57 12 75
Retinitis Pigmentosa, Type 49 40

Characteristics:

HPO:

32
retinitis pigmentosa 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613756
Disease Ontology 12 DOID:0110377
ICD10 33 H35.5
MedGen 42 C3151059
MeSH 44 D012174
SNOMED-CT via HPO 69 258211005 28835009
UMLS 73 C3151059

Summaries for Retinitis Pigmentosa 49

UniProtKB/Swiss-Prot : 75 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. 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 phenotypes are rod-cone dystrophy and Mildly decreased CFP-tsO45G cell surface transport

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 9.2 EEF1A2 HBS1L

Symptoms & Phenotypes for Retinitis Pigmentosa 49

Clinical features from OMIM:

613756

Human phenotypes related to Retinitis Pigmentosa 49:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.02 CNGA1 CNGB1 EEF1A2 HBS1L RPS17

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:

41
Eye

Publications for Retinitis Pigmentosa 49

Variations for Retinitis Pigmentosa 49

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

75
# 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 CNGA1, 1-BP DEL, FS655TER deletion Pathogenic
2 CNGA1 NM_001142564.1(CNGA1): c.445G> T (p.Glu149Ter) single nucleotide variant Pathogenic rs121909599 GRCh37 Chromosome 4, 47951911: 47951911
3 CNGA1 NM_001142564.1(CNGA1): c.445G> T (p.Glu149Ter) single nucleotide variant Pathogenic rs121909599 GRCh38 Chromosome 4, 47949894: 47949894
4 CNGA1 NM_001142564.1(CNGA1): c.634A> T (p.Lys212Ter) single nucleotide variant Pathogenic rs121909600 GRCh37 Chromosome 4, 47945220: 47945220
5 CNGA1 NM_001142564.1(CNGA1): c.634A> T (p.Lys212Ter) single nucleotide variant Pathogenic rs121909600 GRCh38 Chromosome 4, 47943203: 47943203
6 CNGA1 NM_000087.3(CNGA1): c.959C> T (p.Ser320Phe) single nucleotide variant Pathogenic rs62625014 GRCh37 Chromosome 4, 47939552: 47939552
7 CNGA1 NM_000087.3(CNGA1): c.959C> T (p.Ser320Phe) single nucleotide variant Pathogenic rs62625014 GRCh38 Chromosome 4, 47937535: 47937535
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.652C> T (p.Arg218Ter) single nucleotide variant no interpretation for the single variant rs759781200 GRCh38 Chromosome 4, 47940775: 47940775
13 CNGA1 NM_000087.3(CNGA1): c.652C> T (p.Arg218Ter) single nucleotide variant no interpretation for the single variant rs759781200 GRCh37 Chromosome 4, 47942792: 47942792
14 CNGA1 NM_000087.3(CNGA1): c.1271G> A (p.Arg424Gln) single nucleotide variant Uncertain significance rs192912733 GRCh37 Chromosome 4, 47939240: 47939240
15 CNGA1 NM_000087.3(CNGA1): c.1271G> A (p.Arg424Gln) single nucleotide variant Uncertain significance rs192912733 GRCh38 Chromosome 4, 47937223: 47937223
16 CNGA1 NM_000087.3(CNGA1): c.265delC (p.Leu89Phefs) deletion Pathogenic rs749012133 GRCh38 Chromosome 4, 47949867: 47949867
17 CNGA1 NM_000087.3(CNGA1): c.265delC (p.Leu89Phefs) deletion Pathogenic rs749012133 GRCh37 Chromosome 4, 47951884: 47951884

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
Show member pathways
11.35 CNGA1 CNGB1
2 10.93 CNGA1 CNGB1
3 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 8.96 ATP6V1A EEF1A2
2 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 potassium ion transmembrane transport GO:0071805 9.43 CNGA1 CNGB1
3 translation GO:0006412 9.43 EEF1A2 HBS1L RPS17
4 regulation of membrane potential GO:0042391 9.4 CNGA1 CNGB1
5 cation transmembrane transport GO:0098655 9.32 CNGA1 CNGB1
6 translational elongation GO:0006414 9.16 EEF1A2 HBS1L
7 regulation of rhodopsin mediated signaling pathway GO:0022400 8.96 CNGA1 CNGB1
8 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 voltage-gated potassium channel activity GO:0005249 9.37 CNGA1 CNGB1
2 translation elongation factor activity GO:0003746 9.32 EEF1A2 HBS1L
3 cGMP binding GO:0030553 9.26 CNGA1 CNGB1
4 intracellular cAMP activated cation channel activity GO:0005222 9.16 CNGA1 CNGB1
5 intracellular cGMP activated cation channel activity GO:0005223 8.96 CNGA1 CNGB1
6 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 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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