MCID: RTN172
MIFTS: 39

Retinitis Pigmentosa 1

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 1

MalaCards integrated aliases for Retinitis Pigmentosa 1:

Name: Retinitis Pigmentosa 1 53 12 49 71 28 13 51 14 69
Rp1 53 12 49 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
genetic heterogeneity (see )
dominant inheritance form(s) in 3 to 4% of cases



Classifications:



External Ids:

OMIM 53 180100
Disease Ontology 12 DOID:0110390
ICD10 32 H35.5
MedGen 39 C0220701
MeSH 41 D012174

Summaries for Retinitis Pigmentosa 1

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 1: 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.

MalaCards based summary : Retinitis Pigmentosa 1, also known as rp1, is related to retinitis pigmentosa and retinal degeneration, and has symptoms including myopia, nyctalopia and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 1 is RP1 (RP1, Axonemal Microtubule Associated). The drugs Adapalene and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and eye, and related phenotypes are nervous system and vision/eye

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RP1 gene on chromosome 8q12.

Description from OMIM: 180100

Related Diseases for Retinitis Pigmentosa 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.7 DCX IMPDH1 PRPH2 RHO RP1 RP1L1
2 retinal degeneration 28.8 PRPH2 RHO
3 retinitis 28.7 IMPDH1 PRPH2 RHO RP1
4 cone-rod dystrophy 1 11.3
5 leber congenital amaurosis 4 10.1
6 occult macular dystrophy 10.0 DCX RP1L1
7 retinitis pigmentosa 10 9.8 IMPDH1 RHO
8 stargardt macular degeneration 9.7 PRPH2 RHO
9 usher syndrome, type i 9.7 IMPDH1 RHO
10 retinitis pigmentosa 7 9.7 PRPH2 RHO
11 fundus albipunctatus 9.7 PRPH2 RHO
12 stargardt disease 9.6 PRPH2 RHO
13 cone-rod dystrophy 2 9.6 PRPH2 RHO
14 retinal disease 9.6 PRPH2 RHO
15 fundus dystrophy 9.5 PRPH2 RHO
16 rhyns syndrome 9.4 PRPH2 RHO RP1
17 macular degeneration, age-related, 1 9.3 PRPH2 RHO
18 leber congenital amaurosis 9.3 IMPDH1 PRPH2 RHO

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 1:



Diseases related to Retinitis Pigmentosa 1

Symptoms & Phenotypes for Retinitis Pigmentosa 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
retinitis pigmentosa
constricted visual fields
night blindness
retinal 'bone corpuscle' pigmentation
myopia, moderate

Laboratory Abnormalities:
absent cone and rod functions by electroretinogram (erg)


Clinical features from OMIM:

180100

Human phenotypes related to Retinitis Pigmentosa 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 constriction of peripheral visual field 31 HP:0001133
5 bone spicule pigmentation of the retina 31 HP:0007737
6 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

MGI Mouse Phenotypes related to Retinitis Pigmentosa 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 RHO RP1 RP1L1 DCX PRPH2
2 vision/eye MP:0005391 8.92 PRPH2 RHO RP1 RP1L1

Drugs & Therapeutics for Retinitis Pigmentosa 1

Drugs for Retinitis Pigmentosa 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
2
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
3 Antidotes Phase 1
4 Anti-Infective Agents Phase 1
5 Antioxidants Phase 1
6 Antiviral Agents Phase 1
7 Expectorants Phase 1
8 N-monoacetylcystine Phase 1
9 Protective Agents Phase 1
10 Respiratory System Agents Phase 1
11 cysteine Nutraceutical Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
2 A Study of AMG 557 in Adults With Systemic Lupus Erythematosus Completed NCT00774943 Phase 1 AMG 557
3 The FIGHT-RP1 Study Recruiting NCT03063021 Phase 1 N-Acetyl Cysteine (NAC)
4 Idylla IFV-RSV Panel Clinical Testing Completed NCT02786381

Search NIH Clinical Center for Retinitis Pigmentosa 1

Genetic Tests for Retinitis Pigmentosa 1

Genetic tests related to Retinitis Pigmentosa 1:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 1 28 RP1

Anatomical Context for Retinitis Pigmentosa 1

MalaCards organs/tissues related to Retinitis Pigmentosa 1:

38
Bone, Testes, Eye, Retina

Publications for Retinitis Pigmentosa 1

Articles related to Retinitis Pigmentosa 1:

# Title Authors Year
1
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. ( 15269252 )
2004
2
Identification and characterization of the retinitis pigmentosa 1- like1 gene (rp1l1): a novel candidate for retinal degenerations. ( 12634863 )
2003
3
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. ( 12724644 )
2003
4
[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa]. ( 12048676 )
2002

Variations for Retinitis Pigmentosa 1

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 1:

71
# Symbol AA change Variation ID SNP ID
1 RP1 p.Asp202Glu VAR_064182
2 RP1 p.Ala669Thr VAR_064468 rs201725231
3 RP1 p.Asp984Gly VAR_064471 rs200135800
4 RP1 p.Lys900Asn VAR_066951
5 RP1 p.Thr2113Asn VAR_066959 rs137887415
6 RP1 p.Leu172Arg VAR_068351 rs180729424

ClinVar genetic disease variations for Retinitis Pigmentosa 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RP1 NM_006269.1(RP1): c.5019T> G (p.Tyr1673Ter) single nucleotide variant Pathogenic rs398124220 GRCh37 Chromosome 8, 55541461: 55541461
2 RP1 NM_006269.1(RP1): c.4555delA (p.Arg1519Glufs) deletion Pathogenic rs794727640 GRCh37 Chromosome 8, 55540997: 55540997
3 RP1 NM_006269.1(RP1): c.2700dupA (p.Pro901Thrfs) duplication Pathogenic/Likely pathogenic rs797044735 GRCh37 Chromosome 8, 55539142: 55539142
4 RP1 NM_006269.1(RP1): c.2029C> T (p.Arg677Ter) single nucleotide variant Pathogenic rs104894082 GRCh37 Chromosome 8, 55538471: 55538471
5 RP1 NM_006269.1(RP1): c.2285_2289delTAAAT (p.Leu762Tyrfs) deletion Pathogenic rs869320726 GRCh38 Chromosome 8, 54626167: 54626171
6 RP1 NM_006269.1(RP1): c.2287_2290delAATA (p.Asn763Leufs) deletion Pathogenic rs869320727 GRCh37 Chromosome 8, 55538729: 55538732
7 RP1 NM_006269.1(RP1): c.2035C> T (p.Gln679Ter) single nucleotide variant Pathogenic rs104894083 GRCh37 Chromosome 8, 55538477: 55538477
8 RP1 NM_006269.1(RP1): c.1458_1461dupTGAA (p.Glu488Terfs) duplication Pathogenic rs869320728 GRCh37 Chromosome 8, 55537900: 55537903
9 RP1 NM_006269.1(RP1): c.4196delG (p.Cys1399Leufs) deletion Likely pathogenic rs762951570 GRCh37 Chromosome 8, 55540638: 55540638
10 RP1 NM_006269.1(RP1): c.4743dupA (p.Cys1582Metfs) duplication Pathogenic rs886041040 GRCh37 Chromosome 8, 55541185: 55541185

Expression for Retinitis Pigmentosa 1

Search GEO for disease gene expression data for Retinitis Pigmentosa 1.

Pathways for Retinitis Pigmentosa 1

GO Terms for Retinitis Pigmentosa 1

Cellular components related to Retinitis Pigmentosa 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.5 DCX RP1 RP1L1
2 axoneme GO:0005930 9.37 RP1 RP1L1
3 photoreceptor inner segment GO:0001917 9.26 RHO RP1
4 photoreceptor connecting cilium GO:0032391 9.16 RP1 RP1L1
5 microtubule associated complex GO:0005875 8.96 DCX RP1
6 photoreceptor outer segment GO:0001750 8.92 PRPH2 RHO RP1 RP1L1

Biological processes related to Retinitis Pigmentosa 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.61 DCX RP1 RP1L1
2 visual perception GO:0007601 9.46 PRPH2 RHO RP1 RP1L1
3 axoneme assembly GO:0035082 9.4 RP1 RP1L1
4 phototransduction, visible light GO:0007603 9.37 RHO RP1
5 cellular response to light stimulus GO:0071482 9.32 RHO RP1
6 photoreceptor cell development GO:0042461 9.26 RP1 RP1L1
7 photoreceptor cell maintenance GO:0045494 9.13 RHO RP1 RP1L1
8 retina development in camera-type eye GO:0060041 8.92 PRPH2 RHO RP1 RP1L1

Sources for Retinitis Pigmentosa 1

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
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