RP1
MCID: RTN172
MIFTS: 39

Retinitis Pigmentosa 1 (RP1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 1

MalaCards integrated aliases for Retinitis Pigmentosa 1:

Name: Retinitis Pigmentosa 1 57 12 53 74 29 13 55 6 15 72
Rp1 57 12 53 74
Retinitis Pigmentosa, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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



Classifications:



External Ids:

Disease Ontology 12 DOID:0110390
MeSH 44 D012174
ICD10 33 H35.5
MedGen 42 C0220701
UMLS 72 C0220701

Summaries for Retinitis Pigmentosa 1

UniProtKB/Swiss-Prot : 74 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 fundus dystrophy and leber congenital amaurosis. An important gene associated with Retinitis Pigmentosa 1 is RP1 (RP1 Axonemal Microtubule Associated). Affiliated tissues include retina, bone and eye, and related phenotypes are myopia and nyctalopia

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

More information from OMIM: 180100 PS268000

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 30.7 RP1 RHO PRPH2 IFT140
2 leber congenital amaurosis 30.5 RHO PRPH2 IFT140
3 retinal disease 29.6 RHO PRPH2
4 cone-rod dystrophy 2 29.5 RHO PRPH2
5 retinitis pigmentosa 29.5 RP1L1 RP1 RHO PRPH2 IFT140 DCX
6 stargardt disease 29.2 RHO PRPH2
7 retinal degeneration 29.2 RHO PRPH2
8 macular degeneration, age-related, 1 29.1 RHO PRPH2
9 retinitis 28.9 RP1L1 RP1 RHO PRPH2
10 inherited retinal disorder 11.7
11 leber congenital amaurosis 1 11.3
12 cone-rod dystrophy 1 11.3
13 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 11.3
14 yemenite deaf-blind hypopigmentation syndrome 10.4
15 neuroretinitis 10.4
16 familial adenomatous polyposis 10.3
17 cone dystrophy 10.3
18 colorectal cancer 10.2
19 hypertriglyceridemia, familial 10.2
20 retinal detachment 10.0
21 retinitis pigmentosa 10 10.0
22 bardet-biedl syndrome 1 10.0
23 retinitis pigmentosa-deafness syndrome 10.0
24 microphthalmia, syndromic 10 10.0
25 usher syndrome 10.0
26 myopia 10.0
27 squamous cell papilloma 10.0
28 toxic shock syndrome 10.0
29 bardet-biedl syndrome 10.0
30 papilloma 10.0
31 gastric adenocarcinoma 10.0
32 thyroid hyalinizing trabecular adenoma 10.0
33 night blindness 10.0
34 refractive error 10.0
35 familial isolated pituitary adenoma 10.0
36 rapidly involuting congenital hemangioma 10.0
37 occult macular dystrophy 9.9 RP1L1 DCX
38 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9
39 stargardt macular degeneration 9.7 RHO PRPH2
40 retinitis pigmentosa 7 9.7 RHO PRPH2
41 fundus albipunctatus 9.6 RHO PRPH2

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



Diseases related to Retinitis Pigmentosa 1

Symptoms & Phenotypes for Retinitis Pigmentosa 1

Human phenotypes related to Retinitis Pigmentosa 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 nyctalopia 32 HP:0000662
3 rod-cone dystrophy 32 HP:0000510
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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
retinal 'bone corpuscle' pigmentation
myopia, moderate

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

Clinical features from OMIM:

180100

MGI Mouse Phenotypes related to Retinitis Pigmentosa 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.43 DCX IFT140 PRPH2 RHO RP1 RP1L1
2 vision/eye MP:0005391 9.02 IFT140 PRPH2 RHO RP1 RP1L1

Drugs & Therapeutics for Retinitis Pigmentosa 1

Search Clinical Trials , 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
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 1

Articles related to Retinitis Pigmentosa 1:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 8 71
15863674 2005
2
A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q. 8 71
10465120 1999
3
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. 8 71
10401003 1999
4
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 8 71
10391211 1999
5
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. 8 71
10391212 1999
6
Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285. 8 71
8931712 1996
7
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. 8 71
1783394 1991
8
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 71
26666451 2016
9
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. 8
25883087 2015
10
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 71
22234150 2012
11
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. 8
22052604 2012
12
Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations. 8
16126734 2005
13
Nonsyndromic Retinitis Pigmentosa Overview 71
20301590 2000
14
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 8
10484783 1999
15
Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groups. 8
2572401 1989
16
Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. 8
7120314 1982
17
Possible assignment of a dominant retinitis pigmentosa gene to chromosome 1. 8
6803203 1982
18
A maximum likelihood map of chromosome 1. 8
293128 1979
19
Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1. 8
879170 1977
20
Linkage studies of typical retinitis pigmentosa and common markers. 8
17948536 1975
21
[Preliminary results of a survey on the incidence and geographic distribution of tapeto-retinal degeneration in Switzerland (study of 5 cantons)]. 8
13860992 1961
22
Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. 9 38
18552984 2008
23
A novel missense RP1 mutation in retinitis pigmentosa. 9 38
15933747 2006
24
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. 9 38
12724644 2003
25
Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. 9 38
12634863 2003
26
Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. 9 38
12764676 2003
27
Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I. 9 38
8154871 1994
28
Utility of en-face imaging in diagnosis of occult macular dystrophy with RP1L1 mutation: A case series. 38
31193770 2019
29
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa. 38
30027431 2018
30
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. 38
30025130 2018
31
ERG and OCT findings of a patient with a clinical diagnosis of occult macular dystrophy in a patient of Ashkenazi Jewish descent associated with a novel mutation in the gene encoding RP1L1. 38
28473427 2017
32
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds. 38
27510606 2016
33
Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy. 38
25908487 2015
34
Isobaric Tags for Relative and Absolute Quantitation-Based Proteomic Analysis of Patent and Constricted Ductus Arteriosus Tissues Confirms the Systemic Regulation of Ductus Arteriosus Closure. 38
25915513 2015
35
[Efficacy of intravitreal dexamethasone implants in macular edema excluding venous occlusions: results for a cohort of 80 patients]. 38
25592383 2015
36
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. 38
25088982 2014
37
Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P). 38
24838559 2014
38
FGF signaling emerged concomitantly with the origin of Eumetazoans. 38
24222650 2014
39
Clinical and genetic characteristics of Korean occult macular dystrophy patients. 38
23745001 2013
40
Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento. 38
23991373 2013
41
Characterizing the phenotype and genotype of a family with occult macular dystrophy. 38
23229695 2012
42
Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa. 38
23049240 2012
43
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. 38
22927954 2012
44
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. 38
23077400 2012
45
Gene mapping and mutation screening in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa. 38
22567862 2012
46
Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival. 38
21148103 2010
47
Dominant mutations in RP1L1 are responsible for occult macular dystrophy. 38
20826268 2010
48
Differential pattern of RP1 mutations in retinitis pigmentosa. 38
20664799 2010
49
Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. 38
19657028 2009
50
The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background. 38
19060274 2009

Variations for Retinitis Pigmentosa 1

ClinVar genetic disease variations for Retinitis Pigmentosa 1:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RP1 NM_006269.2(RP1): c.3843del (p.Pro1282fs) deletion Pathogenic rs769601671 8:55540285-55540285 8:54627725-54627725
2 RP1 NM_006269.2(RP1): c.5105_5109del (p.Asp1702fs) deletion Pathogenic rs1278053918 8:55541547-55541551 8:54628987-54628991
3 RP1 NM_006269.2(RP1): c.366_367GC[3] (p.Pro124fs) short repeat Pathogenic 8:55533894-55533895 8:54621334-54621335
4 RP1 NM_006269.2(RP1): c.2335del (p.Ser779fs) deletion Pathogenic 8:55538777-55538777 8:54626217-54626217
5 RP1 NM_006269.2(RP1): c.2029C> T (p.Arg677Ter) single nucleotide variant Pathogenic rs104894082 8:55538471-55538471 8:54625911-54625911
6 RP1 NM_006269.2(RP1): c.2280_2284TAAAT[1] (p.Leu762fs) short repeat Pathogenic rs869320726 8:55538727-55538731 8:54626167-54626171
7 RP1 NM_006269.2(RP1): c.2287_2290del (p.Asn763fs) deletion Pathogenic rs869320727 8:55538729-55538732 8:54626169-54626172
8 RP1 NM_006269.2(RP1): c.2035C> T (p.Gln679Ter) single nucleotide variant Pathogenic rs104894083 8:55538477-55538477 8:54625917-54625917
9 RP1 NM_006269.2(RP1): c.1458_1461dup (p.Glu488Ter) duplication Pathogenic rs869320728 8:55537900-55537903 8:54625340-54625343
10 RP1 NM_006269.2(RP1): c.4743dup (p.Cys1582fs) duplication Pathogenic rs886041040 8:55541185-55541185 8:54628625-54628625
11 RP1 NM_006269.2(RP1): c.1451C> A (p.Ser484Ter) single nucleotide variant Pathogenic/Likely pathogenic 8:55537893-55537893 8:54625333-54625333
12 RP1 NM_006269.2(RP1): c.4196del (p.Cys1399fs) deletion Likely pathogenic rs762951570 8:55540638-55540638 8:54628078-54628078
13 RP1 NM_006269.2(RP1): c.2716G> A (p.Ala906Thr) single nucleotide variant Uncertain significance rs201538234 8:55539158-55539158 8:54626598-54626598
14 RP1 NM_006269.2(RP1): c.1118C> T (p.Thr373Ile) single nucleotide variant Benign/Likely benign rs77775126 8:55537560-55537560 8:54625000-54625000

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

74
# 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

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 cytoskeleton GO:0005856 9.78 RP1L1 RP1 IFT140 DCX
2 cell projection GO:0042995 9.65 RP1L1 RP1 RHO IFT140 DCX
3 microtubule GO:0005874 9.63 RP1L1 RP1 DCX
4 cilium GO:0005929 9.58 RP1L1 RP1 IFT140
5 photoreceptor inner segment GO:0001917 9.43 RP1 RHO
6 ciliary tip GO:0097542 9.37 RP1 IFT140
7 photoreceptor connecting cilium GO:0032391 9.33 RP1L1 RP1 IFT140
8 microtubule associated complex GO:0005875 9.32 RP1 DCX
9 axoneme GO:0005930 9.26 RP1L1 RP1 IFT140 DCX
10 photoreceptor outer segment GO:0001750 9.02 RP1L1 RP1 RHO PRPH2 IFT140

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.67 RP1L1 RP1 RHO
2 intracellular signal transduction GO:0035556 9.65 RP1L1 RP1 DCX
3 cell projection organization GO:0030030 9.63 RP1L1 RP1 IFT140
4 visual perception GO:0007601 9.56 RP1L1 RP1 RHO PRPH2
5 photoreceptor cell maintenance GO:0045494 9.5 RP1L1 RP1 RHO
6 cellular response to light stimulus GO:0071482 9.43 RP1 RHO
7 photoreceptor cell outer segment organization GO:0035845 9.4 RP1 IFT140
8 phototransduction, visible light GO:0007603 9.37 RP1 RHO
9 axoneme assembly GO:0035082 9.33 RP1L1 RP1 DCX
10 photoreceptor cell development GO:0042461 9.13 RP1L1 RP1 DCX
11 retina development in camera-type eye GO:0060041 9.1 RP1L1 RP1 RHO PRPH2 IFT140 DCX

Sources for Retinitis Pigmentosa 1

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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