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 57 12 53 74 29 13 6 15 72
Rp19 57 12 74
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:

Disease Ontology 12 DOID:0110354
MeSH 44 D012174
ICD10 33 H35.5
MedGen 42 C1866422
UMLS 72 C1866422

Summaries for Retinitis Pigmentosa 19

UniProtKB/Swiss-Prot : 74 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 stargardt disease 1. 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. Affiliated tissues include eye, bone 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.

More information from OMIM: 601718 PS268000

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:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.0 RP9 PDE6B CNGA1 ABCA4
2 stargardt disease 1 10.1
3 stargardt disease 10.1
4 cerebral artery occlusion 10.1
5 ischemia 10.1
6 stargardt macular degeneration 10.1
7 neuroretinitis 10.0
8 retinitis 10.0
9 scotoma 9.8 KCNMA1 ABCA4
10 fundus dystrophy 9.6 PDE6B CNGA1 ABCA4

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:

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

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

Drugs & Therapeutics for Retinitis Pigmentosa 19

Search Clinical Trials , 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
Eye, Bone, Retina, Brain, Skin, Spleen

Publications for Retinitis Pigmentosa 19

Articles related to Retinitis Pigmentosa 19:

(show all 29)
# Title Authors PMID Year
1
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. 38 8 71
10874631 1999
2
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. 38 8 71
9070931 1997
3
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. 8 71
9425888 1998
4
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 71
26666451 2016
5
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 71
22234150 2012
6
Nonsyndromic Retinitis Pigmentosa Overview 71
20301590 2000
7
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 71
9466990 1998
8
Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. 8
8556816 1995
9
Turkey Hemorrhagic Enteritis Virus Can Be Titrated but Not Propagated in Chicken Embryos. 38
31251523 2019
10
Complete nucleotide sequence of a new virus, peach chlorotic leaf spot virus, isolated from flat peach in China. 38
30206703 2018
11
Quinolinyl Nitrone RP19 Induces Neuroprotection after Transient Brain Ischemia. 38
28731692 2017
12
Real-time PCR-based infectivity assay for the titration of turkey hemorrhagic enteritis virus, an adenovirus, in live vaccines. 38
27829121 2017
13
Protein Primary Structure of the Vaccinia Virion at Increased Resolution 38
27558425 2016
14
P19 contributes to Mycoplasma mycoides subsp. mycoides adhesion to EBL cells. 38
26806796 2016
15
SNEV(Prp19/PSO4) deficiency increases PUVA-induced senescence in mouse skin. 38
26663487 2016
16
A novel adenovirus in Chinstrap penguins (Pygoscelis antarctica) in Antarctica. 38
24811321 2014
17
Assessment of mineral phosphate-solubilizing properties and molecular characterization of zinc-tolerant bacteria. 38
22359218 2012
18
Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family. 38
21281067 2011
19
Identification and characterization of Ixodes scapularis antigens that elicit tick immunity using yeast surface display. 38
21246036 2011
20
Reaction time during semi-automated kinetic perimetry (SKP) in patients with advanced visual field loss. 38
19094165 2010
21
[Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)]. 38
12353176 2002
22
A retrospective study of low-vision cases in an Indian tertiary eye-care hospital. 38
11217251 2000
23
Organization of the ABCR gene: analysis of promoter and splice junction sequences. 38
9666097 1998
24
Response of specific-pathogen-free turkeys to vaccines derived from marble spleen disease virus and hemorrhagic enteritis virus. 38
7832705 1994
25
Characterization of rps17, rp19 and rpl15: three nucleus-encoded plastid ribosomal protein genes. 38
1581570 1992
26
Further studies on in vitro and in vivo assays of hemorrhagic enteritis virus (HEV). 38
3039962 1987
27
A monoclonal antibody reactive with Marek's disease tumor-associated surface antigen. 38
6294177 1983
28
Propagation of virulent and avirulent turkey hemorrhagic enteritis virus in cell culture. 38
6297447 1982
29
[Studies on retinitis pigmentosa. 19. Synthesis of retinal-amine complex]. 38
6005672 1966

Variations for Retinitis Pigmentosa 19

ClinVar genetic disease variations for Retinitis Pigmentosa 19:

6 (show all 26)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCA4 NM_000350.3(ABCA4): c.6079C> T (p.Leu2027Phe) single nucleotide variant Pathogenic rs61751408 1:94471065-94471065 1:94005509-94005509
2 ABCA4 NM_000350.3(ABCA4): c.1848del (p.Glu616fs) deletion Pathogenic rs61751386 1:94528222-94528222 1:94062666-94062666
3 ABCA4 NM_000350.3(ABCA4): c.4139C> T (p.Pro1380Leu) single nucleotide variant Pathogenic rs61750130 1:94496666-94496666 1:94031110-94031110
4 ABCA4 NM_000350.3(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 1:94471056-94471056 1:94005500-94005500
5 ABCA4 NM_000350.3(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 1:94476951-94476951 1:94011395-94011395
6 ABCA4 NM_000350.3(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 1:94526316-94526316 1:94060760-94060760
7 ABCA4 NM_000350.3(ABCA4): c.4537dup (p.Gln1513fs) duplication Pathogenic rs281865377 1:94495003-94495003 1:94029447-94029447
8 ABCA4 NM_000350.3(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 1:94495000-94495000 1:94029444-94029444
9 ABCA4 NM_000350.3(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic rs61751407 1:94476351-94476351 1:94010795-94010795
10 ABCA4 NM_000350.3(ABCA4): c.6118C> T (p.Arg2040Ter) single nucleotide variant Pathogenic rs61753038 1:94471026-94471026 1:94005470-94005470
11 ABCA4 NM_000350.3(ABCA4): c.768G> T (p.Val256=) single nucleotide variant Pathogenic rs62645944 1:94564350-94564350 1:94098794-94098794
12 ABCA4 NM_000350.3(ABCA4): c.6089G> A (p.Arg2030Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61750641 1:94471055-94471055 1:94005499-94005499
13 ABCA4 NM_000350.3(ABCA4): c.3386G> T (p.Arg1129Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1801269 1:94506901-94506901 1:94041345-94041345
14 ABCA4 NM_000350.3(ABCA4): c.4462T> C (p.Cys1488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61750146 1:94495078-94495078 1:94029522-94029522
15 ABCA4 NM_000350.3(ABCA4): c.6729+5_6729+19del deletion Pathogenic/Likely pathogenic rs749526785 1:94463398-94463412 1:93997842-93997856
16 ABCA4 NM_000350.3(ABCA4): c.4577C> T (p.Thr1526Met) single nucleotide variant Pathogenic/Likely pathogenic rs61750152 1:94490567-94490567 1:94025011-94025011
17 ABCA4 NM_000350.3(ABCA4): c.1648G> A (p.Gly550Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61748558 1:94528780-94528780 1:94063224-94063224
18 ABCA4 NM_000350.3(ABCA4): c.179C> T (p.Ala60Val) single nucleotide variant Pathogenic/Likely pathogenic rs55732384 1:94577117-94577117 1:94111561-94111561
19 ABCA4 NM_000350.3(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 1:94508969-94508969 1:94043413-94043413
20 ABCA4 NM_000350.3(ABCA4): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic/Likely pathogenic rs61750200 1:94564484-94564484 1:94098928-94098928
21 ABCA4 NM_000350.3(ABCA4): c.1957C> T (p.Arg653Cys) single nucleotide variant Likely pathogenic rs61749420 1:94526296-94526296 1:94060740-94060740
22 ABCA4 NM_000350.3(ABCA4): c.6077T> C (p.Leu2026Pro) single nucleotide variant Likely pathogenic rs886044758 1:94471067-94471067 1:94005511-94005511
23 ABCA4 NM_000350.3(ABCA4): c.838A> T (p.Met280Leu) single nucleotide variant Uncertain significance rs138682163 1:94548928-94548928 1:94083372-94083372
24 ABCA4 NM_000350.3(ABCA4): c.370C> T (p.Arg124Cys) single nucleotide variant Uncertain significance rs138359497 1:94574205-94574205 1:94108649-94108649
25 ABCA4 NM_000350.3(ABCA4): c.466A> G (p.Ile156Val) single nucleotide variant Uncertain significance rs62646863 1:94568675-94568675 1:94103119-94103119
26 ABCA4 NM_000350.3(ABCA4): c.1140T> A (p.Asn380Lys) single nucleotide variant Uncertain significance rs61748549 1:94544977-94544977 1:94079421-94079421

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 PDE6B CNGA1 ABCA4
2 10.96 KCNMA1 CELA3B

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

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 PDE6B CNGA1 ABCA4
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 PDE6B CNGA1
3 rhodopsin mediated signaling pathway GO:0016056 8.96 PDE6B CNGA1
4 phototransduction, visible light GO:0007603 8.62 PDE6B ABCA4

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 KCNN3 KCNMA1

Sources for Retinitis Pigmentosa 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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