RP19
MCID: RTN048
MIFTS: 38

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 58 12 54 76 30 13 6 15 74
Rp19 58 12 76
Retinitis Pigmentosa, Type 19 41
Rp 19 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
retinitis pigmentosa 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110354
OMIM 58 601718
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1866422
UMLS 74 C1866422

Summaries for Retinitis Pigmentosa 19

UniProtKB/Swiss-Prot : 76 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 retinitis pigmentosa and leber congenital amaurosis 4. An important gene associated with Retinitis Pigmentosa 19 is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Pancreatic secretion. The drug Antirheumatic Agents has been mentioned in the context of this disorder. Affiliated tissues include bone, brain and eye, 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
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.6 ABCA4 CNGA1 PDE6B RP9
2 leber congenital amaurosis 4 10.2
3 retinitis 10.2
4 stargardt disease 1 10.0
5 stargardt disease 10.0
6 brain ischemia 10.0
7 ischemia 10.0
8 scotoma 10.0 ABCA4 KCNMA1
9 sexual disorder 9.8 ALDH7A1 KCNMA1
10 impotence 9.7 ALDH7A1 KCNMA1
11 fundus dystrophy 9.7 ABCA4 CNGA1 PDE6B

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



Diseases related to Retinitis Pigmentosa 19

Symptoms & Phenotypes for Retinitis Pigmentosa 19

Human phenotypes related to Retinitis Pigmentosa 19:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 33 HP:0000512
2 reduced visual acuity 33 HP:0007663
3 nyctalopia 33 HP:0000662
4 rod-cone dystrophy 33 HP:0000510
5 optic disc pallor 33 HP:0000543
6 constriction of peripheral visual field 33 HP:0001133
7 attenuation of retinal blood vessels 33 HP:0007843
8 bone spicule pigmentation of the retina 33 HP:0007737
9 retinal pigment epithelial atrophy 33 HP:0007722

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ABCA4

Anatomical Context for Retinitis Pigmentosa 19

MalaCards organs/tissues related to Retinitis Pigmentosa 19:

42
Bone, Brain, Eye, Retina

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
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. ( 10874631 )
1999
3
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. ( 9466990 )
1998
4
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. ( 9425888 )
1998
5
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. ( 9070931 )
1997
6
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 top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh37 Chromosome 1, 94471065: 94471065
2 ABCA4 NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 GRCh38 Chromosome 1, 94005509: 94005509
3 ABCA4 NM_000350.2(ABCA4): c.1848delA (p.Glu616Aspfs) deletion Pathogenic rs61751386 GRCh37 Chromosome 1, 94528222: 94528222
4 ABCA4 NM_000350.2(ABCA4): c.1848delA (p.Glu616Aspfs) deletion Pathogenic rs61751386 GRCh38 Chromosome 1, 94062666: 94062666
5 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
6 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
7 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 GRCh37 Chromosome 1, 94564484: 94564484
8 ABCA4 NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 GRCh38 Chromosome 1, 94098928: 94098928
9 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh37 Chromosome 1, 94496666: 94496666
10 ABCA4 NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 GRCh38 Chromosome 1, 94031110: 94031110
11 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
12 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500
13 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
14 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
15 ABCA4 NM_000350.2(ABCA4): c.1140T> A (p.Asn380Lys) single nucleotide variant Uncertain significance rs61748549 GRCh37 Chromosome 1, 94544977: 94544977
16 ABCA4 NM_000350.2(ABCA4): c.1140T> A (p.Asn380Lys) single nucleotide variant Uncertain significance rs61748549 GRCh38 Chromosome 1, 94079421: 94079421
17 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
18 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh38 Chromosome 1, 94111579: 94111579
19 ABCA4 NM_000350.2(ABCA4): c.1648G> A (p.Gly550Arg) single nucleotide variant Likely pathogenic rs61748558 GRCh37 Chromosome 1, 94528780: 94528780
20 ABCA4 NM_000350.2(ABCA4): c.1648G> A (p.Gly550Arg) single nucleotide variant Likely pathogenic rs61748558 GRCh38 Chromosome 1, 94063224: 94063224
21 ABCA4 NM_000350.2(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Pathogenic/Likely pathogenic rs55732384 GRCh37 Chromosome 1, 94577117: 94577117
22 ABCA4 NM_000350.2(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Pathogenic/Likely pathogenic rs55732384 GRCh38 Chromosome 1, 94111561: 94111561
23 ABCA4 NM_000350.2(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 GRCh37 Chromosome 1, 94526316: 94526316
24 ABCA4 NM_000350.2(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 GRCh38 Chromosome 1, 94060760: 94060760
25 ABCA4 NM_000350.2(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 GRCh37 Chromosome 1, 94526296: 94526296
26 ABCA4 NM_000350.2(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 GRCh38 Chromosome 1, 94060740: 94060740
27 ABCA4 NM_000350.2(ABCA4): c.3386G> T (p.Arg1129Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1801269 GRCh37 Chromosome 1, 94506901: 94506901
28 ABCA4 NM_000350.2(ABCA4): c.3386G> T (p.Arg1129Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1801269 GRCh38 Chromosome 1, 94041345: 94041345
29 ABCA4 NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 GRCh37 Chromosome 1, 94495078: 94495078
30 ABCA4 NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 GRCh38 Chromosome 1, 94029522: 94029522
31 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) insertion Pathogenic rs281865377 GRCh37 Chromosome 1, 94495003: 94495003
32 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) insertion Pathogenic rs281865377 GRCh38 Chromosome 1, 94029447: 94029447
33 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh37 Chromosome 1, 94495000: 94495000
34 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh38 Chromosome 1, 94029444: 94029444
35 ABCA4 NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met) single nucleotide variant Pathogenic/Likely pathogenic rs61750152 GRCh37 Chromosome 1, 94490567: 94490567
36 ABCA4 NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met) single nucleotide variant Pathogenic/Likely pathogenic rs61750152 GRCh38 Chromosome 1, 94025011: 94025011
37 ABCA4 NM_000350.2(ABCA4): c.466A> G (p.Ile156Val) single nucleotide variant Uncertain significance rs62646863 GRCh37 Chromosome 1, 94568675: 94568675
38 ABCA4 NM_000350.2(ABCA4): c.466A> G (p.Ile156Val) single nucleotide variant Uncertain significance rs62646863 GRCh38 Chromosome 1, 94103119: 94103119
39 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh37 Chromosome 1, 94476351: 94476351
40 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 GRCh38 Chromosome 1, 94010795: 94010795
41 ABCA4 NM_000350.2(ABCA4): c.6089G> A (p.Arg2030Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61750641 GRCh37 Chromosome 1, 94471055: 94471055
42 ABCA4 NM_000350.2(ABCA4): c.6089G> A (p.Arg2030Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61750641 GRCh38 Chromosome 1, 94005499: 94005499
43 ABCA4 NM_000350.2(ABCA4): c.6118C> T (p.Arg2040Ter) single nucleotide variant Pathogenic rs61753038 GRCh37 Chromosome 1, 94471026: 94471026
44 ABCA4 NM_000350.2(ABCA4): c.6118C> T (p.Arg2040Ter) single nucleotide variant Pathogenic rs61753038 GRCh38 Chromosome 1, 94005470: 94005470
45 ABCA4 NM_000350.2(ABCA4): c.6229C> T (p.Arg2077Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61750645 GRCh37 Chromosome 1, 94467467: 94467467
46 ABCA4 NM_000350.2(ABCA4): c.6229C> T (p.Arg2077Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61750645 GRCh38 Chromosome 1, 94001911: 94001911
47 ABCA4 NM_000350.2(ABCA4): c.768G> T (p.Val256=) single nucleotide variant Pathogenic rs62645944 GRCh37 Chromosome 1, 94564350: 94564350
48 ABCA4 NM_000350.2(ABCA4): c.768G> T (p.Val256=) single nucleotide variant Pathogenic rs62645944 GRCh38 Chromosome 1, 94098794: 94098794
49 ABCA4 NM_000350.2(ABCA4): c.6077T> C (p.Leu2026Pro) single nucleotide variant Likely pathogenic rs886044758 GRCh37 Chromosome 1, 94471067: 94471067
50 ABCA4 NM_000350.2(ABCA4): c.6077T> C (p.Leu2026Pro) single nucleotide variant Likely pathogenic rs886044758 GRCh38 Chromosome 1, 94005511: 94005511

Expression for Retinitis Pigmentosa 19

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

Pathways for Retinitis Pigmentosa 19

Pathways related to Retinitis Pigmentosa 19 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.13 ABCA4 CNGA1 PDE6B
2 10.95 CELA3B KCNMA1

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 GO:0001750 8.96 ABCA4 CNGA1
2 photoreceptor disc membrane GO:0097381 8.62 ABCA4 PDE6B

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.43 ABCA4 CNGA1 PDE6B
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 CNGA1 PDE6B
3 rhodopsin mediated signaling pathway GO:0016056 8.96 CNGA1 PDE6B
4 phototransduction, visible light GO:0007603 8.62 ABCA4 PDE6B

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 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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