RP9
MCID: RTN070
MIFTS: 33

Retinitis Pigmentosa 9 (RP9)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 9

MalaCards integrated aliases for Retinitis Pigmentosa 9:

Name: Retinitis Pigmentosa 9 57 12 20 72 29 13 6 15 70
Rp9 57 12 72
Retinitis Pigmentosa, Type 9 39
Rp 9 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
retinitis pigmentosa 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110387
OMIM® 57 180104
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1867300
UMLS 70 C1867300

Summaries for Retinitis Pigmentosa 9

UniProtKB/Swiss-Prot : 72 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 usher syndrome, type iiia. An important gene associated with Retinitis Pigmentosa 9 is RP9 (RP9 Pre-MRNA Splicing Factor). Affiliated tissues include eye, retina and bone, and related phenotypes are cataract and macular atrophy

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

OMIM® : 57 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) (Updated 05-Apr-2021)

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10 31.2 RP9 IMPDH1
2 usher syndrome, type iiia 31.2 RP9 IMPDH1
3 retinitis pigmentosa 7 31.0 RP9 GUCA1B
4 usher syndrome 30.7 RP9 NRL IMPDH1
5 retinal disease 30.4 RP9 NRL IMPDH1 GUCA1B
6 eye degenerative disease 30.2 RP9 NRL IMPDH1 GUCA1B
7 leber plus disease 30.2 RP9 NRL IMPDH1 GUCA1B
8 fundus dystrophy 30.1 RP9 NRL IMPDH1 GUCA1B
9 retinitis 30.1 RP9 IMPDH1
10 retinitis pigmentosa 28.0 RP9P RP9 NRL LOC100421404 IMPDH1 GUCA1B
11 cone-rod dystrophy 9 11.2
12 gyrate atrophy of choroid and retina 10.8
13 retinitis pigmentosa 3 10.8
14 retinitis pigmentosa 6 10.8
15 retinitis pigmentosa 13 10.8
16 retinitis pigmentosa 12 10.8
17 retinitis pigmentosa 14 10.8
18 retinitis pigmentosa 11 10.8
19 retinitis pigmentosa 17 10.8
20 retinitis pigmentosa 18 10.8
21 retinitis pigmentosa 19 10.8
22 retinitis pigmentosa 31 10.8
23 retinitis pigmentosa 33 10.8
24 retinitis pigmentosa 37 10.8
25 retinitis pigmentosa 4 10.8
26 retinitis pigmentosa 20 10.8
27 inhalation anthrax 10.8
28 neuroretinitis 10.0
29 bardet-biedl syndrome 2 9.9
30 eye disease 9.9
31 retinitis pigmentosa 1 9.9 NRL IMPDH1
32 leber congenital amaurosis 1 9.7 IMPDH1 GUCA1B
33 stargardt disease 9.6 NRL IMPDH1
34 retinal degeneration 9.4 NRL IMPDH1 GUCA1B

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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 macular atrophy 31 occasional (7.5%) HP:0007401
3 macular edema 31 occasional (7.5%) HP:0040049
4 nyctalopia 31 HP:0000662
5 rod-cone dystrophy 31 HP:0000510
6 constriction of peripheral visual field 31 HP:0001133
7 bone spicule pigmentation of the retina 31 HP:0007737
8 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 9

Search Clinical Trials , 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 29 RP9

Anatomical Context for Retinitis Pigmentosa 9

MalaCards organs/tissues related to Retinitis Pigmentosa 9:

40
Eye, Retina, Bone, Brain

Publications for Retinitis Pigmentosa 9

Articles related to Retinitis Pigmentosa 9:

(show all 34)
# Title Authors PMID Year
1
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. 57 6
12032732 2002
2
Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. 57 6
1479605 1992
3
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. 61 6
16671097 2006
4
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 57
16799052 2006
5
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. 57
15474994 2004
6
Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families. 57
9039989 1997
7
A YAC contig spanning the dominant retinitis pigmentosa locus (RP9) on chromosome 7p. 57
7490071 1995
8
Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. 57
8079997 1994
9
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. 57
8025041 1993
10
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. 57
8513323 1993
11
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. 57
8513324 1993
12
Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP. 57
1427827 1992
13
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up. 61
33579689 2021
14
Evaluation of FilmArray respiratory panel multiplex polymerase chain reaction assay for detection of pathogens in adult outpatients with acute respiratory tract infection. 61
29895452 2018
15
Systemic Sclerosis Sine Scleroderma in Mexican Patients. Case Reports. 61
28065485 2018
16
Absence of Scleroderma pattern at nail fold capillaroscopy valuable in the exclusion of Scleroderma in unselected patients with Raynaud's Phenomenon. 61
27526772 2016
17
Analysis and detection of the chemical constituents of Radix Polygalae and their metabolites in rats after oral administration by ultra high-performance liquid chromatography coupled with electrospray ionization quadrupole time-of-flight tandem mass spectrometry. 61
23860503 2013
18
Autophagy is involved in the early step of Japanese encephalitis virus infection. 61
21946213 2012
19
Vimentin binding is critical for infection by the virulent strain of Japanese encephalitis virus. 61
21707907 2011
20
A Japanese encephalitis virus vaccine candidate strain is attenuated by decreasing its interferon antagonistic ability. 61
19366580 2009
21
Conservation and expression of a novel alternatively spliced Evi1 exon. 61
17014970 2006
22
Chicken B-cell-activating factor: regulator of B-cell survival in the bursa of fabricius. 61
15140054 2004
23
Interactions between the membranes of turkey cells and Mycoplasma meleagridis. 61
14562888 2003
24
Chemotactic response of lymphocytes in chicken embryos infected with Mycoplasma gallisepticum. 61
12531685 2003
25
Highly sulfated forms of heparin sulfate are involved in japanese encephalitis virus infection. 61
11448173 2001
26
Chemotactic activities of avian lymphocytes. 61
10579392 1999
27
Localizations of NS3 and E proteins in mouse brain infected with mutant strain of Japanese encephalitis virus. 61
9930192 1998
28
Effects of induced hypo- and hyperthyroidism on immune function and plasma biochemistry in mallards (Anas platyrhynchos). 61
9440248 1997
29
A highly attenuated strain of Japanese encephalitis virus induces a protective immune response in mice. 61
8873412 1996
30
Generation and characterization of organ-tropism mutants of Japanese encephalitis virus in vivo and in vitro. 61
8806542 1996
31
Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy. 61
7573063 1995
32
[Anatomo-topographical characteristics of various acupuncture points in children]. 61
2053869 1991
33
Expression of a putative tumor-associated surface antigen on normal versus Marek's disease virus-transformed lymphocytes. 61
3479647 1987
34
[Effects of nifedipine in patients with unstable chronic obstructive pulmonary disease]. 61
2942120 1986

Variations for Retinitis Pigmentosa 9

ClinVar genetic disease variations for Retinitis Pigmentosa 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RP9 NM_203288.2(RP9):c.509A>G (p.Asp170Gly) SNV Pathogenic 3335 rs104894039 GRCh37: 7:33135003-33135003
GRCh38: 7:33095391-33095391
2 RP9 NM_203288.2(RP9):c.410A>T (p.His137Leu) SNV Uncertain significance 3334 rs104894037 GRCh37: 7:33136162-33136162
GRCh38: 7:33096550-33096550
3 RP9 NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) Deletion Benign 198295 rs553265417 GRCh37: 7:33134848-33134848
GRCh38: 7:33095236-33095236
4 RP9 NM_203288.2(RP9):c.629A>G (p.Lys210Arg) SNV Benign 167609 rs150987618 GRCh37: 7:33134883-33134883
GRCh38: 7:33095271-33095271

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

72
# Symbol AA change Variation ID SNP ID
1 RP9 p.His137Leu VAR_017252 rs104894037
2 RP9 p.Asp170Gly VAR_017253 rs104894039

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

Sources for Retinitis Pigmentosa 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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