MCID: RTN070
MIFTS: 28

Retinitis Pigmentosa 9

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 9

MalaCards integrated aliases for Retinitis Pigmentosa 9:

Name: Retinitis Pigmentosa 9 53 12 49 71 28 13 14 69
Rp9 53 12 71
Retinitis Pigmentosa-9 13
Rp 9 49

Characteristics:

OMIM:

53
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:

OMIM 53 180104
Disease Ontology 12 DOID:0110387
ICD10 32 H35.5
MedGen 39 C1867300
MeSH 41 D012174
UMLS 69 C1867300

Summaries for Retinitis Pigmentosa 9

UniProtKB/Swiss-Prot : 71 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 and retinitis pigmentosa, and has symptoms including cataract, nyctalopia and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 9 is RP9 (RP9, Pre-MRNA Splicing Factor). Affiliated tissues include eye, bone and retina.

OMIM : 53 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)

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

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 Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 retinitis 28.9 IMPDH1 RP9
2 retinitis pigmentosa 27.9 AMPH IMPDH1 RP9 RP9P
3 cone-rod dystrophy 9 11.1
4 macular dystrophy, dominant cystoid 9.8
5 leber congenital amaurosis 4 9.8
6 retinitis pigmentosa 10 9.7 IMPDH1 RP9
7 retinitis pigmentosa 13 9.7 IMPDH1 RP9
8 retinitis pigmentosa 18 9.6 IMPDH1 RP9

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



Diseases related to Retinitis Pigmentosa 9

Symptoms & Phenotypes for Retinitis Pigmentosa 9

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
retinitis pigmentosa
constricted visual fields
night blindness (age of onset from <10 to >21 years of age)
macular edema (in some patients)
macular atrophy (in some patients)
more

Clinical features from OMIM:

180104

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 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 macular edema 31 occasional (7.5%) HP:0040049
5 macular atrophy 31 occasional (7.5%) HP:0007401
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

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 28 RP9

Anatomical Context for Retinitis Pigmentosa 9

MalaCards organs/tissues related to Retinitis Pigmentosa 9:

38
Eye, Bone, Retina

Publications for Retinitis Pigmentosa 9

Articles related to Retinitis Pigmentosa 9:

# Title Authors Year
1
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

Variations for Retinitis Pigmentosa 9

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

71
# 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.509A> G (p.Asp170Gly) single nucleotide variant Pathogenic rs104894039 GRCh37 Chromosome 7, 33135003: 33135003

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
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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