RP19
MCID: RTN048
MIFTS: 40

Retinitis Pigmentosa 19 (RP19)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 19

MalaCards integrated aliases for Retinitis Pigmentosa 19:

Name: Retinitis Pigmentosa 19 57 12 53 75 29 13 6 15 73
Rp19 57 12 75
Retinitis Pigmentosa, Type 19 40
Rp 19 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in the first decade of life
progression of symptoms with age


HPO:

32
retinitis pigmentosa 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601718
Disease Ontology 12 DOID:0110354
ICD10 33 H35.5
MedGen 42 C1866422
MeSH 44 D012174
UMLS 73 C1866422

Summaries for Retinitis Pigmentosa 19

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa 19: 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. RP19 is characterized by choroidal atrophy.

MalaCards based summary : Retinitis Pigmentosa 19, also known as rp19, is related to stargardt disease and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 19 is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Phototransduction and Pancreatic secretion. The drug Antirheumatic Agents has been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, and related phenotypes are abnormal electroretinogram and reduced visual acuity

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the ABCA4 gene on chromosome 1p22.

Description from OMIM: 601718

Related Diseases for Retinitis Pigmentosa 19

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 19 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 stargardt disease 30.0 ABCA4 RHO
2 retinitis pigmentosa 29.8 ABCA4 CNGA1 PDE6B RHO
3 leber congenital amaurosis 4 10.2
4 retinitis 10.2
5 scotoma 10.1 ABCA4 KCNMA1
6 stargardt macular degeneration 10.1 ABCA4 RHO
7 stargardt disease 1 10.0 ABCA4 RHO
8 sexual disorder 10.0 ALDH7A1 KCNMA1
9 red-green color blindness 10.0 ABCA4 RHO
10 brain ischemia 10.0
11 ischemia 10.0
12 optic disk drusen 10.0 KCNMA1 RHO
13 autosomal dominant congenital stationary night blindness 10.0 PDE6B RHO
14 yemenite deaf-blind hypopigmentation syndrome 10.0 ABCA4 RHO
15 retinitis pigmentosa 43 10.0 PDE6B RHO
16 degeneration of macula and posterior pole 10.0 ABCA4 RHO
17 impotence 9.9 ALDH7A1 KCNMA1
18 oguchi disease 9.9 PDE6B RHO
19 macular degeneration, age-related, 1 9.9 ABCA4 KCNMA1 RHO
20 cone-rod dystrophy 2 9.9 ABCA4 ALDH7A1 RHO
21 congenital stationary night blindness 9.9 ABCA4 PDE6B RHO
22 retinal disease 9.9 ABCA4 PDE6B RHO
23 retinal degeneration 9.9 ABCA4 PDE6B RHO
24 fundus albipunctatus 9.8 PDE6B RHO
25 leber congenital amaurosis 9.7 ABCA4 PDE6B RHO
26 fundus dystrophy 9.7 ABCA4 CNGA1 PDE6B RHO

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 19:



Diseases related to Retinitis Pigmentosa 19

Symptoms & Phenotypes for Retinitis Pigmentosa 19

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic disc pallor
decreased visual acuity
night blindness
concentric reduction of visual field
attenuated vessels
more

Clinical features from OMIM:

601718

Human phenotypes related to Retinitis Pigmentosa 19:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 32 HP:0000512
2 reduced visual acuity 32 HP:0007663
3 nyctalopia 32 HP:0000662
4 rod-cone dystrophy 32 HP:0000510
5 optic disc pallor 32 HP:0000543
6 constriction of peripheral visual field 32 HP:0001133
7 attenuation of retinal blood vessels 32 HP:0007843
8 bone spicule pigmentation of the retina 32 HP:0007737
9 retinal pigment epithelial atrophy 32 HP:0007722

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 19 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.4 PRPF19
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.4 PDE6B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.4 PDE6B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.4 PDE6B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.4 PDE6B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.4 PDE6B PRPF19 RHO
7 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.4 RHO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.4 PDE6B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.4 RHO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.4 PDE6B

Drugs & Therapeutics for Retinitis Pigmentosa 19

Drugs for Retinitis Pigmentosa 19 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antirheumatic Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Tocilizumab in Combination With Disease-Modifying Anti-Rheumatic Drugs (DMARDs) in Participants With Moderate to Severe Active Rheumatoid Arthritis With an Inadequate Response to DMARDs Completed NCT00996606 Phase 3 DMARDs;Tocilizumab

Search NIH Clinical Center for Retinitis Pigmentosa 19

Genetic Tests for Retinitis Pigmentosa 19

Genetic tests related to Retinitis Pigmentosa 19:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 19 29 ABCA4

Anatomical Context for Retinitis Pigmentosa 19

MalaCards organs/tissues related to Retinitis Pigmentosa 19:

41
Bone, Eye, Retina, Brain

Publications for Retinitis Pigmentosa 19

Articles related to Retinitis Pigmentosa 19:

# Title Authors Year
1
Quinolinyl Nitrone RP19 Induces Neuroprotection after Transient Brain Ischemia. ( 28731692 )
2017
2
Characterization of rps17, rp19 and rpl15: three nucleus-encoded plastid ribosomal protein genes. ( 1581570 )
1992

Variations for Retinitis Pigmentosa 19

ClinVar genetic disease variations for Retinitis Pigmentosa 19:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.1848delA (p.Glu616Aspfs) deletion Pathogenic rs61751386 GRCh37 Chromosome 1, 94528222: 94528222
2 ABCA4 NM_000350.2(ABCA4): c.1848delA (p.Glu616Aspfs) deletion Pathogenic rs61751386 GRCh38 Chromosome 1, 94062666: 94062666
3 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895
4 ABCA4 NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh38 Chromosome 1, 94079339: 94079339
5 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
6 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh38 Chromosome 1, 94111579: 94111579
7 ABCA4 NM_000350.2(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 GRCh37 Chromosome 1, 94526316: 94526316
8 ABCA4 NM_000350.2(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 GRCh38 Chromosome 1, 94060760: 94060760
9 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) duplication Pathogenic rs281865377 GRCh37 Chromosome 1, 94495003: 94495003
10 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) duplication Pathogenic rs281865377 GRCh38 Chromosome 1, 94029447: 94029447
11 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh37 Chromosome 1, 94495000: 94495000
12 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh38 Chromosome 1, 94029444: 94029444
13 ABCA4 NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met) single nucleotide variant Pathogenic/Likely pathogenic rs61750152 GRCh37 Chromosome 1, 94490567: 94490567
14 ABCA4 NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met) single nucleotide variant Pathogenic/Likely pathogenic rs61750152 GRCh38 Chromosome 1, 94025011: 94025011
15 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh37 Chromosome 1, 94476351: 94476351
16 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh38 Chromosome 1, 94010795: 94010795
17 ABCA4 NM_000350.2(ABCA4): c.6229C> T (p.Arg2077Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61750645 GRCh37 Chromosome 1, 94467467: 94467467
18 ABCA4 NM_000350.2(ABCA4): c.6229C> T (p.Arg2077Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61750645 GRCh38 Chromosome 1, 94001911: 94001911
19 ABCA4 NM_000350.2(ABCA4): c.768G> T (p.Val256=) single nucleotide variant Pathogenic rs62645944 GRCh37 Chromosome 1, 94564350: 94564350
20 ABCA4 NM_000350.2(ABCA4): c.768G> T (p.Val256=) single nucleotide variant Pathogenic rs62645944 GRCh38 Chromosome 1, 94098794: 94098794
21 ABCA4 NM_000350.2(ABCA4): c.6729+5_6729+19delGTTGGCCCTGGGGCA deletion Conflicting interpretations of pathogenicity rs749526785 GRCh37 Chromosome 1, 94463398: 94463412
22 ABCA4 NM_000350.2(ABCA4): c.6729+5_6729+19delGTTGGCCCTGGGGCA deletion Conflicting interpretations of pathogenicity rs749526785 GRCh38 Chromosome 1, 93997842: 93997856

Expression for Retinitis Pigmentosa 19

Search GEO for disease gene expression data for Retinitis Pigmentosa 19.

Pathways for Retinitis Pigmentosa 19

GO Terms for Retinitis Pigmentosa 19

Cellular components related to Retinitis Pigmentosa 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment membrane GO:0042622 9.16 CNGA1 RHO
2 photoreceptor outer segment GO:0001750 9.13 ABCA4 CNGA1 RHO
3 photoreceptor disc membrane GO:0097381 8.8 ABCA4 PDE6B RHO

Biological processes related to Retinitis Pigmentosa 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.67 ABCA4 CNGA1 PDE6B RHO
2 visual perception GO:0007601 9.56 ABCA4 CNGA1 PDE6B RHO
3 retina development in camera-type eye GO:0060041 9.46 PDE6B RHO
4 retinoid metabolic process GO:0001523 9.43 ABCA4 RHO
5 photoreceptor cell maintenance GO:0045494 9.4 ABCA4 RHO
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.33 CNGA1 PDE6B RHO
7 detection of light stimulus GO:0009583 9.32 PDE6B RHO
8 rhodopsin mediated signaling pathway GO:0016056 9.13 CNGA1 PDE6B RHO
9 phototransduction, visible light GO:0007603 8.8 ABCA4 PDE6B RHO

Molecular functions related to Retinitis Pigmentosa 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium-activated potassium channel activity GO:0015269 8.62 KCNMA1 KCNN3

Sources for Retinitis Pigmentosa 19

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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