RP9
MCID: RTN070
MIFTS: 32

Retinitis Pigmentosa 9 (RP9)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 9

MalaCards integrated aliases for Retinitis Pigmentosa 9:

Name: Retinitis Pigmentosa 9 58 12 54 76 30 13 6 15 74
Rp9 58 12 76
Retinitis Pigmentosa, Type 9 41
Retinitis Pigmentosa-9 13
Rp 9 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable age of onset
variable disease severity
one 9-generation family and 1 isolated patient described (last curated march 2014)
mutation in rp9 gene in family likely not pathogenic


HPO:

33
retinitis pigmentosa 9:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Retinitis Pigmentosa 9

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 9: 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 9, also known as rp9, is related to retinitis pigmentosa 10 and retinitis pigmentosa 13. An important gene associated with Retinitis Pigmentosa 9 is RP9 (RP9 Pre-MRNA Splicing Factor). Affiliated tissues include eye, bone and retina, and related phenotypes are cataract and macular edema

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RP9 gene on chromosome 7p14.

OMIM : 58 Autosomal dominant retinitis pigmentosa (ADRP) is characterized by a typical fundus appearance, narrowed retinal vessels, and changes in the electrophysiological responses of the eye. Early signs are night blindness and constriction of the visual fields with a variable ages of onset (summary by Jay et al., 1992). (180104)

Related Diseases for Retinitis Pigmentosa 9

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10 31.3 IMPDH1 RP9
2 retinitis pigmentosa 13 31.3 IMPDH1 RP9
3 retinitis pigmentosa 18 31.1 IMPDH1 RP9
4 retinitis 29.6 IMPDH1 RP9
5 retinitis pigmentosa 28.8 IMPDH1 LOC100421404 RP9 RP9P
6 cone-rod dystrophy 9 11.3
7 retinitis pigmentosa 6 11.2
8 retinitis pigmentosa 12 11.2
9 retinitis pigmentosa 14 11.2
10 retinitis pigmentosa 11 11.2
11 retinitis pigmentosa 19 11.2
12 retinitis pigmentosa 7 11.2
13 dyskinesia of esophagus 11.2
14 leber congenital amaurosis 4 9.9

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 9:



Diseases related to Retinitis Pigmentosa 9

Symptoms & Phenotypes for Retinitis Pigmentosa 9

Human phenotypes related to Retinitis Pigmentosa 9:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 33 occasional (7.5%) HP:0000518
2 macular edema 33 occasional (7.5%) HP:0040049
3 macular atrophy 33 occasional (7.5%) HP:0007401
4 nyctalopia 33 HP:0000662
5 rod-cone dystrophy 33 HP:0000510
6 constriction of peripheral visual field 33 HP:0001133
7 undetectable light- and dark-adapted electroretinogram 33 HP:0007688
8 bone spicule pigmentation of the retina 33 HP:0007737

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract (in some patients)
retinitis pigmentosa
constricted visual fields
night blindness (age of onset from <10 to >21 years of age)
macular edema (in some patients)
more

Clinical features from OMIM:

180104

Drugs & Therapeutics for Retinitis Pigmentosa 9

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study to Compare the Pharmacokinetics and Safety of Replenine®-VF, Replenine® or Other Factor IX in Haemophilia B Completed NCT02263456 Phase 3

Search NIH Clinical Center for Retinitis Pigmentosa 9

Genetic Tests for Retinitis Pigmentosa 9

Genetic tests related to Retinitis Pigmentosa 9:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 9 30 RP9

Anatomical Context for Retinitis Pigmentosa 9

MalaCards organs/tissues related to Retinitis Pigmentosa 9:

42
Eye, Bone, Retina

Publications for Retinitis Pigmentosa 9

Articles related to Retinitis Pigmentosa 9:

(show all 11)
# Title Authors Year
1
Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9. ( 28216641 )
2017
2
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. ( 16799052 )
2006
3
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. ( 16671097 )
2006
4
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. ( 15474994 )
2004
5
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. ( 12032732 )
2002
6
A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p. ( 7490071 )
1995
7
Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy. ( 7573063 )
1995
8
Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9). ( 8128965 )
1994
9
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. ( 8025041 )
1993
10
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. ( 8513323 )
1993
11
Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. ( 1479605 )
1992

Variations for Retinitis Pigmentosa 9

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 9:

76
# Symbol AA change Variation ID SNP ID
1 RP9 p.His137Leu VAR_017252 rs104894037
2 RP9 p.Asp170Gly VAR_017253 rs104894039

ClinVar genetic disease variations for Retinitis Pigmentosa 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RP9 NM_203288.1(RP9): c.410A> T (p.His137Leu) single nucleotide variant Uncertain significance rs104894037 GRCh37 Chromosome 7, 33136162: 33136162
2 RP9 NM_203288.1(RP9): c.410A> T (p.His137Leu) single nucleotide variant Uncertain significance rs104894037 GRCh38 Chromosome 7, 33096550: 33096550
3 RP9 NM_203288.1(RP9): c.509A> G (p.Asp170Gly) single nucleotide variant Pathogenic rs104894039 GRCh37 Chromosome 7, 33135003: 33135003
4 RP9 NM_203288.1(RP9): c.509A> G (p.Asp170Gly) single nucleotide variant Pathogenic rs104894039 GRCh38 Chromosome 7, 33095391: 33095391

Expression for Retinitis Pigmentosa 9

Search GEO for disease gene expression data for Retinitis Pigmentosa 9.

Pathways for Retinitis Pigmentosa 9

GO Terms for Retinitis Pigmentosa 9

Biological processes related to Retinitis Pigmentosa 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 8.32 AMPH

Sources for Retinitis Pigmentosa 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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