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 57 12 53 75 29 13 55 6 15 73
Rp1 57 12 53 75
Retinitis Pigmentosa, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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



Classifications:



External Ids:

OMIM 57 180100
Disease Ontology 12 DOID:0110390
ICD10 33 H35.5
MedGen 42 C0220701
MeSH 44 D012174

Summaries for Retinitis Pigmentosa 1

UniProtKB/Swiss-Prot : 75 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. 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 retina, and related phenotypes are rod-cone dystrophy and myopia

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 16)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.1 DCX IMPDH1 PRPH2 RHO RP1 RP1L1
2 retinal degeneration 28.0 PRPH2 RHO
3 retinitis 27.0 IMPDH1 PRPH2 RHO RP1 RP1L1
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 9.6 IMPDH1 RHO
8 stargardt macular degeneration 9.5 PRPH2 RHO
9 retinitis pigmentosa 7 9.5 PRPH2 RHO
10 usher syndrome, type i 9.4 IMPDH1 RHO
11 fundus albipunctatus 9.4 PRPH2 RHO
12 stargardt disease 9.4 PRPH2 RHO
13 cone-rod dystrophy 2 9.2 PRPH2 RHO
14 retinal disease 9.1 PRPH2 RHO
15 fundus dystrophy 9.0 PRPH2 RHO RP1
16 leber congenital amaurosis 8.8 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:

57
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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 myopia 32 HP:0000545
3 nyctalopia 32 HP:0000662
4 constriction of peripheral visual field 32 HP:0001133
5 undetectable light- and dark-adapted electroretinogram 32 HP:0007688
6 bone spicule pigmentation of the retina 32 HP:0007737

MGI Mouse Phenotypes related to Retinitis Pigmentosa 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 DCX PRPH2 RHO RP1 RP1L1
2 vision/eye MP:0005391 9.02 IMPDH1 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 Active, not 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 29 RP1

Anatomical Context for Retinitis Pigmentosa 1

MalaCards organs/tissues related to Retinitis Pigmentosa 1:

41
Bone, Testes, Retina, Eye

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:

75
# 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
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 RP1 NM_006269.1(RP1): c.2029C> T (p.Arg677Ter) single nucleotide variant Pathogenic rs104894082 GRCh37 Chromosome 8, 55538471: 55538471
2 RP1 NM_006269.1(RP1): c.2029C> T (p.Arg677Ter) single nucleotide variant Pathogenic rs104894082 GRCh38 Chromosome 8, 54625911: 54625911
3 RP1 NM_006269.1(RP1): c.2285_2289delTAAAT (p.Leu762Tyrfs) deletion Pathogenic rs869320726 GRCh38 Chromosome 8, 54626167: 54626171
4 RP1 NM_006269.1(RP1): c.2285_2289delTAAAT (p.Leu762Tyrfs) deletion Pathogenic rs869320726 GRCh37 Chromosome 8, 55538727: 55538731
5 RP1 NM_006269.1(RP1): c.2287_2290delAATA (p.Asn763Leufs) deletion Pathogenic rs869320727 GRCh37 Chromosome 8, 55538729: 55538732
6 RP1 NM_006269.1(RP1): c.2287_2290delAATA (p.Asn763Leufs) deletion Pathogenic rs869320727 GRCh38 Chromosome 8, 54626169: 54626172
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.2035C> T (p.Gln679Ter) single nucleotide variant Pathogenic rs104894083 GRCh38 Chromosome 8, 54625917: 54625917
9 RP1 NM_006269.1(RP1): c.1458_1461dupTGAA (p.Glu488Terfs) duplication Pathogenic rs869320728 GRCh37 Chromosome 8, 55537900: 55537903
10 RP1 NM_006269.1(RP1): c.1458_1461dupTGAA (p.Glu488Terfs) duplication Pathogenic rs869320728 GRCh38 Chromosome 8, 54625340: 54625343
11 RP1 NM_006269.1(RP1): c.5019T> G (p.Tyr1673Ter) single nucleotide variant Pathogenic rs398124220 GRCh37 Chromosome 8, 55541461: 55541461
12 RP1 NM_006269.1(RP1): c.5019T> G (p.Tyr1673Ter) single nucleotide variant Pathogenic rs398124220 GRCh38 Chromosome 8, 54628901: 54628901
13 RP1 NM_006269.1(RP1): c.4555delA (p.Arg1519Glufs) deletion Pathogenic rs794727640 GRCh37 Chromosome 8, 55540997: 55540997
14 RP1 NM_006269.1(RP1): c.4555delA (p.Arg1519Glufs) deletion Pathogenic rs794727640 GRCh38 Chromosome 8, 54628437: 54628437
15 RP1 NM_006269.1(RP1): c.2700dupA (p.Pro901Thrfs) duplication Pathogenic rs797044735 GRCh37 Chromosome 8, 55539142: 55539142
16 RP1 NM_006269.1(RP1): c.2700dupA (p.Pro901Thrfs) duplication Pathogenic rs797044735 GRCh38 Chromosome 8, 54626582: 54626582
17 RP1 NM_006269.1(RP1): c.4196delG (p.Cys1399Leufs) deletion Likely pathogenic rs762951570 GRCh37 Chromosome 8, 55540638: 55540638
18 RP1 NM_006269.1(RP1): c.4196delG (p.Cys1399Leufs) deletion Likely pathogenic rs762951570 GRCh38 Chromosome 8, 54628078: 54628078
19 RP1 NM_006269.1(RP1): c.4743dupA (p.Cys1582Metfs) duplication Pathogenic rs886041040 GRCh37 Chromosome 8, 55541185: 55541185
20 RP1 NM_006269.1(RP1): c.4743dupA (p.Cys1582Metfs) duplication Pathogenic rs886041040 GRCh38 Chromosome 8, 54628625: 54628625
21 RP1 NM_006269.1(RP1): c.5017delT (p.Tyr1673Metfs) deletion Pathogenic GRCh37 Chromosome 8, 55541459: 55541459
22 RP1 NM_006269.1(RP1): c.5017delT (p.Tyr1673Metfs) deletion Pathogenic GRCh38 Chromosome 8, 54628899: 54628899
23 RP1 NM_006269.1(RP1): c.2745delTinsAA (p.Tyr915Terfs) indel Pathogenic GRCh37 Chromosome 8, 55539187: 55539187
24 RP1 NM_006269.1(RP1): c.2745delTinsAA (p.Tyr915Terfs) indel Pathogenic GRCh38 Chromosome 8, 54626627: 54626627
25 RP1 NM_006269.1(RP1): c.5105_5109delATAAG (p.Asp1702Valfs) deletion Pathogenic GRCh37 Chromosome 8, 55541547: 55541551
26 RP1 NM_006269.1(RP1): c.5105_5109delATAAG (p.Asp1702Valfs) deletion Pathogenic GRCh38 Chromosome 8, 54628987: 54628991

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 cellular response to light stimulus GO:0071482 9.37 RHO RP1
5 phototransduction, visible light GO:0007603 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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