RP19
MCID: RTN048
MIFTS: 38

Retinitis Pigmentosa 19 (RP19)

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

Aliases & Classifications for Retinitis Pigmentosa 19

MalaCards integrated aliases for Retinitis Pigmentosa 19:

Name: Retinitis Pigmentosa 19 56 12 52 73 29 13 6 15 71
Rp19 56 12 73
Retinitis Pigmentosa, Type 19 39
Rp 19 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
retinitis pigmentosa 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110354
OMIM 56 601718
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C1866422
UMLS 71 C1866422

Summaries for Retinitis Pigmentosa 19

UniProtKB/Swiss-Prot : 73 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 macular degeneration and retinitis. An important gene associated with Retinitis Pigmentosa 19 is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Affiliated tissues include bone, retina 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.

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 stargardt macular degeneration 30.2 PRPH2 ELOVL4 ABCA4
2 retinitis 29.8 RPGR RP9 PRPH2 ABCA4
3 stargardt disease 29.2 RPGR PRPH2 GRK1 ELOVL4 ABCA4
4 retinitis pigmentosa 28.7 RPGR RP9 PRPH2 GRK1 ELOVL4 ABCA4
5 red-green color blindness 10.4 RPGR ABCA4
6 color blindness 10.4 RPGR ABCA4
7 retinitis pigmentosa 34 10.4 RPGR RP9
8 retinitis pigmentosa 37 10.4 RPGR RP9
9 retinitis pigmentosa 31 10.4 RPGR RP9
10 retinitis pigmentosa 14 10.4 RPGR RP9
11 retinitis pigmentosa 20 10.4 RPGR RP9
12 retinitis pigmentosa 17 10.3 RPGR RP9
13 retinitis pigmentosa 12 10.3 RPGR RP9
14 yemenite deaf-blind hypopigmentation syndrome 10.3 RPGR ABCA4
15 macular degeneration, age-related, 6 10.3 ELOVL4 ABCA4
16 retinitis pigmentosa 4 10.3 RPGR RP9
17 macular degeneration, age-related, 4 10.3 ELOVL4 ABCA4
18 retinitis pigmentosa 6 10.3 RPGR RP9
19 retinitis pigmentosa 25 10.3 RPGR ELOVL4
20 retinitis pigmentosa 1 10.3 RPGR PRPH2
21 retinitis pigmentosa 10 10.3 RPGR RP9
22 bietti crystalline corneoretinal dystrophy 10.3 RPGR ABCA4
23 retinitis pigmentosa 3 10.2 RPGR RP9 ABCA4
24 scotoma 10.2 RPGR ABCA4
25 retinal drusen 10.2 ELOVL4 ABCA4
26 partial central choroid dystrophy 10.2 PRPH2 ABCA4
27 hereditary choroidal atrophy 10.2 PRPH2 ABCA4
28 retinitis pigmentosa 13 10.2 RPGR RP9
29 occult macular dystrophy 10.2 PRPH2 ABCA4
30 bestrophinopathy, autosomal recessive 10.2 PRPH2 ABCA4
31 stargardt disease 1 10.2
32 cerebral artery occlusion 10.2
33 ischemia 10.2
34 macular dystrophy, dominant cystoid 10.1 PRPH2 ABCA4
35 peripheral retinal degeneration 10.1 RPGR PRPH2 ABCA4
36 choroid disease 10.1 RPGR PRPH2 ABCA4
37 leber optic atrophy 10.1 TIMM8A RPGR ABCA4
38 cone dystrophy 10.0 RPGR PRPH2 ABCA4
39 retinitis pigmentosa 7 10.0 RPGR RP9 PRPH2
40 senior-loken syndrome 1 10.0 RPGR PRPH2 ABCA4
41 cone-rod dystrophy 6 10.0 RPGR PRPH2 ABCA4
42 vitreoretinochoroidopathy 10.0 PRPH2 ELOVL4 ABCA4
43 doyne honeycomb retinal dystrophy 10.0 PRPH2 ELOVL4 ABCA4
44 neuroretinitis 10.0
45 hereditary retinal dystrophy 10.0 PRPH2 ELOVL4 ABCA4
46 retinoschisis 1, x-linked, juvenile 10.0 RPGR GRK1 ABCA4
47 late-onset retinal degeneration 10.0 RPGR PRPH2 ELOVL4
48 choroidal dystrophy, central areolar, 1 10.0 PRPH2 ABCA4
49 degeneration of macula and posterior pole 10.0 PRPH2 ELOVL4 ABCA4
50 gyrate atrophy of choroid and retina 9.9 RPGR RP9 PRPH2 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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 31 HP:0000512
2 reduced visual acuity 31 HP:0007663
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 optic disc pallor 31 HP:0000543
6 constriction of peripheral visual field 31 HP:0001133
7 attenuation of retinal blood vessels 31 HP:0007843
8 retinal pigment epithelial atrophy 31 HP:0007722
9 bone spicule pigmentation of the retina 31 HP:0007737

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Retinitis Pigmentosa 19:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 ABCA4 ELOVL4 GRK1 NOTO PRPH2 RP9
2 pigmentation MP:0001186 8.92 ABCA4 ELOVL4 PRPH2 RPGR

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:

40
Bone, Retina, Eye, Spleen, Brain, Skin

Publications for Retinitis Pigmentosa 19

Articles related to Retinitis Pigmentosa 19:

(show all 30)
# 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. 61 6 56
10874631 1999
2
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. 61 56 6
9070931 1997
3
Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. 6 56
9425888 1998
4
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
5
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
6
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
7
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 6
9466990 1998
8
Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa. 56
8556816 1995
9
Turkey adenovirus 3, a siadenovirus, uses sialic acid on N-linked glycoproteins as a cellular receptor. 61
32459612 2020
10
Turkey Hemorrhagic Enteritis Virus Can Be Titrated but Not Propagated in Chicken Embryos. 61
31251523 2019
11
Complete nucleotide sequence of a new virus, peach chlorotic leaf spot virus, isolated from flat peach in China. 61
30206703 2018
12
Quinolinyl Nitrone RP19 Induces Neuroprotection after Transient Brain Ischemia. 61
28731692 2017
13
Real-time PCR-based infectivity assay for the titration of turkey hemorrhagic enteritis virus, an adenovirus, in live vaccines. 61
27829121 2017
14
Protein Primary Structure of the Vaccinia Virion at Increased Resolution 61
27558425 2016
15
P19 contributes to Mycoplasma mycoides subsp. mycoides adhesion to EBL cells. 61
26806796 2016
16
SNEV(Prp19/PSO4) deficiency increases PUVA-induced senescence in mouse skin. 61
26663487 2016
17
A novel adenovirus in Chinstrap penguins (Pygoscelis antarctica) in Antarctica. 61
24811321 2014
18
Assessment of mineral phosphate-solubilizing properties and molecular characterization of zinc-tolerant bacteria. 61
22359218 2012
19
Evidence for a novel autosomal dominant retinitis pigmentosa linked to chromosome 1p22.1-q12 in a Chinese family. 61
21281067 2011
20
Identification and characterization of Ixodes scapularis antigens that elicit tick immunity using yeast surface display. 61
21246036 2011
21
Reaction time during semi-automated kinetic perimetry (SKP) in patients with advanced visual field loss. 61
19094165 2010
22
[Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)]. 61
12353176 2002
23
A retrospective study of low-vision cases in an Indian tertiary eye-care hospital. 61
11217251 2000
24
Organization of the ABCR gene: analysis of promoter and splice junction sequences. 61
9666097 1998
25
Response of specific-pathogen-free turkeys to vaccines derived from marble spleen disease virus and hemorrhagic enteritis virus. 61
7832705 1994
26
Characterization of rps17, rp19 and rpl15: three nucleus-encoded plastid ribosomal protein genes. 61
1581570 1992
27
Further studies on in vitro and in vivo assays of hemorrhagic enteritis virus (HEV). 61
3039962 1987
28
A monoclonal antibody reactive with Marek's disease tumor-associated surface antigen. 61
6294177 1983
29
Propagation of virulent and avirulent turkey hemorrhagic enteritis virus in cell culture. 61
6297447 1982
30
[Studies on retinitis pigmentosa. 19. Synthesis of retinal-amine complex]. 61
6005672 1966

Variations for Retinitis Pigmentosa 19

ClinVar genetic disease variations for Retinitis Pigmentosa 19:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCA4 NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)SNV Pathogenic 7882 rs61751408 1:94471065-94471065 1:94005509-94005509
2 ABCA4 NM_000350.3(ABCA4):c.1848del (p.Glu616fs)deletion Pathogenic 7889 rs61751386 1:94528222-94528222 1:94062666-94062666
3 ABCA4 NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)SNV Pathogenic 7904 rs61750130 1:94496666-94496666 1:94031110-94031110
4 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500
5 ABCA4 NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)SNV Pathogenic 99084 rs61749409 1:94528266-94528266 1:94062710-94062710
6 ABCA4 NM_000350.3(ABCA4):c.1938-1G>ASNV Pathogenic 99106 rs61751263 1:94526316-94526316 1:94060760-94060760
7 ABCA4 NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)duplication Pathogenic 99292 rs281865377 1:94495002-94495003 1:94029446-94029447
8 ABCA4 NM_000350.3(ABCA4):c.4539+1G>TSNV Pathogenic 99294 rs61751388 1:94495000-94495000 1:94029444-94029444
9 ABCA4 NM_000350.3(ABCA4):c.5714+5G>ASNV Pathogenic 99403 rs61751407 1:94476351-94476351 1:94010795-94010795
10 ABCA4 NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)SNV Pathogenic 99431 rs61753038 1:94471026-94471026 1:94005470-94005470
11 ABCA4 NM_000350.3(ABCA4):c.768G>T (p.Val256=)SNV Pathogenic 99505 rs62645944 1:94564350-94564350 1:94098794-94098794
12 ABCA4 NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)SNV Pathogenic/Likely pathogenic 99428 rs61750641 1:94471055-94471055 1:94005499-94005499
13 ABCA4 NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)SNV Pathogenic/Likely pathogenic 99070 rs61748558 1:94528780-94528780 1:94063224-94063224
14 ABCA4 NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)SNV Pathogenic/Likely pathogenic 99083 rs55732384 1:94577117-94577117 1:94111561-94111561
15 ABCA4 NM_000350.3(ABCA4):c.6729+5_6729+19deldeletion Pathogenic/Likely pathogenic 283573 rs749526785 1:94463398-94463412 1:93997842-93997856
16 ABCA4 NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)SNV Pathogenic/Likely pathogenic 99303 rs61750152 1:94490567-94490567 1:94025011-94025011
17 ABCA4 NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)SNV Pathogenic/Likely pathogenic 99108 rs61749420 1:94526296-94526296 1:94060740-94060740
18 ABCA4 NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)SNV Pathogenic/Likely pathogenic 99224 rs1801269 1:94506901-94506901 1:94041345-94041345
19 ABCA4 NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)SNV Pathogenic/Likely pathogenic 99284 rs61750146 1:94495078-94495078 1:94029522-94029522
20 ABCA4 NM_000350.3(ABCA4):c.5461-10T>CSNV Pathogenic/Likely pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395
21 ABCA4 NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)SNV Pathogenic/Likely pathogenic 7894 rs61751374 1:94508969-94508969 1:94043413-94043413
22 ABCA4 NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)SNV Pathogenic/Likely pathogenic 7898 rs61750200 1:94564484-94564484 1:94098928-94098928
23 ABCA4 NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)SNV Likely pathogenic 236144 rs886044758 1:94471067-94471067 1:94005511-94005511
24 ABCA4 NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)SNV Conflicting interpretations of pathogenicity 265010 rs138682163 1:94548928-94548928 1:94083372-94083372
25 ABCA4 NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)SNV Conflicting interpretations of pathogenicity 689736 1:94467475-94467475 1:94001919-94001919
26 ABCA4 NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)SNV Conflicting interpretations of pathogenicity 99310 rs62646863 1:94568675-94568675 1:94103119-94103119
27 ABCA4 NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)SNV Uncertain significance 99033 rs61748549 1:94544977-94544977 1:94079421-94079421
28 ABCA4 NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)SNV Uncertain significance 374737 rs138359497 1:94574205-94574205 1:94108649-94108649

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 disc membrane GO:0097381 8.96 GRK1 ABCA4
2 photoreceptor outer segment GO:0001750 8.92 RPGR PRPH2 GRK1 ABCA4

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 9.26 RPGR PRPH2 GRK1 ABCA4
2 visual perception GO:0007601 8.92 RPGR PRPH2 GRK1 ABCA4

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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