MCID: RTN048
MIFTS: 39

Retinitis Pigmentosa 19

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 19

MalaCards integrated aliases for Retinitis Pigmentosa 19:

Name: Retinitis Pigmentosa 19 53 12 49 71 28 13 14 69
Rp19 53 12 71
Rp 19 49

Characteristics:

OMIM:

53
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:



Summaries for Retinitis Pigmentosa 19

UniProtKB/Swiss-Prot : 71 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 scotoma and retinitis pigmentosa, and has symptoms including visual impairment, abnormal electroretinogram and reduced visual acuity. 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, eye and retina.

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 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 scotoma 10.1 ABCA4 KCNMA1
2 retinitis pigmentosa 10.0
3 leber congenital amaurosis 4 10.0
4 retinitis 10.0
5 sexual disorder 9.9 ALDH7A1 KCNMA1
6 stargardt disease 9.9
7 brain ischemia 9.9
8 ischemia 9.9
9 rhyns syndrome 9.8 ABCA4 CNGA1 PDE6B
10 impotence 9.7 ALDH7A1 KCNMA1
11 macular degeneration, age-related, 1 9.7 ABCA4 KCNMA1 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

Symptoms via clinical synopsis from OMIM:

53
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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 abnormal electroretinogram 31 HP:0000512
3 reduced visual acuity 31 HP:0007663
4 nyctalopia 31 HP:0000662
5 rod-cone dystrophy 31 HP:0000510
6 optic disc pallor 31 HP:0000543
7 attenuation of retinal blood vessels 31 HP:0007843
8 constriction of peripheral visual field 31 HP:0001133
9 retinal pigment epithelial atrophy 31 HP:0007722
10 bone spicule pigmentation of the retina 31 HP:0007737

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 28 ABCA4

Anatomical Context for Retinitis Pigmentosa 19

MalaCards organs/tissues related to Retinitis Pigmentosa 19:

38
Bone, 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
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. ( 9070931 )
1997

Variations for Retinitis Pigmentosa 19

ClinVar genetic disease variations for Retinitis Pigmentosa 19:

6
# 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.1222C> T (p.Arg408Ter) single nucleotide variant Pathogenic rs61748550 GRCh37 Chromosome 1, 94544895: 94544895
3 ABCA4 NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs150774447 GRCh37 Chromosome 1, 94577135: 94577135
4 ABCA4 NM_000350.2(ABCA4): c.1938-1G> A single nucleotide variant Pathogenic rs61751263 GRCh37 Chromosome 1, 94526316: 94526316
5 ABCA4 NM_000350.2(ABCA4): c.4539+1G> T single nucleotide variant Pathogenic rs61751388 GRCh37 Chromosome 1, 94495000: 94495000
6 ABCA4 NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met) single nucleotide variant Pathogenic/Likely pathogenic rs61750152 GRCh37 Chromosome 1, 94490567: 94490567
7 ABCA4 NM_000350.2(ABCA4): c.5714+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs61751407 GRCh37 Chromosome 1, 94476351: 94476351
8 ABCA4 NM_000350.2(ABCA4): c.6229C> T (p.Arg2077Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61750645 GRCh37 Chromosome 1, 94467467: 94467467

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 10.94 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 9.5 ABCA4 CNGA1 PDE6B
2 regulation of membrane potential GO:0042391 9.37 CNGA1 KCNMA1
3 potassium ion transmembrane transport GO:0071805 9.33 CNGA1 KCNMA1 KCNN3
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 CNGA1 PDE6B
5 rhodopsin mediated signaling pathway GO:0016056 8.96 CNGA1 PDE6B
6 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 voltage-gated potassium channel activity GO:0005249 8.96 CNGA1 KCNMA1
2 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....