RP23
MCID: RTN052
MIFTS: 37

Retinitis Pigmentosa 23 (RP23)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 23

MalaCards integrated aliases for Retinitis Pigmentosa 23:

Name: Retinitis Pigmentosa 23 56 12 52 73 29 13 6 15
Rp23 56 12 73
Retinitis Pigmentosa, Type 23 39
Rp23 Gene 71
Rp 23 52

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
affected males have onset of poor vision before the age of 2 years
carrier females have normal funduscopic examinations and normal waveforms seen on electroretinography


HPO:

31
retinitis pigmentosa 23:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110412
OMIM 56 300424
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
UMLS 71 C1419610

Summaries for Retinitis Pigmentosa 23

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 23: 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 23, also known as rp23, is related to retinitis pigmentosa and baraitser-winter cerebrofrontofacial syndrome. An important gene associated with Retinitis Pigmentosa 23 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein), and among its related pathways/superpathways is Muscular Dystrophies and Dystrophin-Glycoprotein Complex. Affiliated tissues include eye, retina and ovary, and related phenotypes are posterior subcapsular cataract and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the OFD1 gene on chromosome Xp22.

More information from OMIM: 300424 PS268000

Related Diseases for Retinitis Pigmentosa 23

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 23 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.1 ZP3 U2AF1 SLC27A5 PYDC1 PRKG1 PRDM10
2 baraitser-winter cerebrofrontofacial syndrome 10.6 ACTG1 ACTB
3 retinitis pigmentosa 74 10.5 POTEF ACTG1 ACTB
4 leukemia, acute monocytic 10.5 U2AF1 H2AC18 GAPDH
5 spherocytosis, type 4 10.5 PYDC1 H2AC18 CTCF
6 baraitser-winter syndrome 10.5 POTEF ACTG1 ACTB
7 actinomycosis 10.5 PRDM10 H2AC18 GAPDH
8 drug-induced lupus erythematosus 10.5 PRDM10 H2AC18 GAPDH
9 amelogenesis imperfecta, type ig 10.5 PRDM10 LCOR H2AC18
10 teeth hard tissue disease 10.4 PRDM10 LCOR H2AC18
11 hereditary lymphedema 10.4 PRDM10 H2AC18 GAPDH
12 hereditary lymphedema i 10.4 PRDM10 H2AC18 GAPDH
13 lens disease 10.4 H2AC18 GAPDH GALK1
14 polycystic kidney disease 3 with or without polycystic liver disease 10.4 PRDM10 GALK1 ADCY10
15 retinitis pigmentosa 11 10.4 SLC27A5 H2AC18 GAPDH
16 hypotrichosis 2 10.4 PRDM10 H2AC18 CTCF
17 hypotrichosis 1 10.4 PRDM10 H2AC18 GAPDH
18 wilson-turner x-linked mental retardation syndrome 10.4 PRDM10 H2AC18 GAPDH
19 breast myoepithelial carcinoma 10.4 ACTG1 ACTB
20 sleeping sickness 10.4 U2AF1 PRDM10 H2AC18 GAPDH
21 ovary adenocarcinoma 10.4 PRDM10 H2AC18 GAPDH
22 hair disease 10.4 PRDM10 H2AC18 GAPDH
23 x-linked recessive disease 10.4 U2AF1 PRDM10 H2AC18 GAPDH
24 x-linked monogenic disease 10.4 U2AF1 PRDM10 H2AC18 GAPDH
25 toxic encephalopathy 10.4 PRDM10 H2AC18 GAPDH
26 contractures, pterygia, and variable skeletal fusions syndrome 1a 10.4 U2AF1 PRDM10 H2AC18 GAPDH
27 hypomyelinating leukodystrophy 10.3 PRDM10 H2AC18 GAPDH ADCY10
28 cerebral degeneration 10.3 PRDM10 H2AC18 GAPDH
29 chediak-higashi syndrome 10.3 PRDM10 H2AC18 ADCY10
30 autonomic nervous system neoplasm 10.3 U2AF1 PRDM10 LCOR H2AC18 GAPDH
31 ovary epithelial cancer 10.3 U2AF1 H2AC18 GAPDH
32 peripheral nervous system neoplasm 10.3 U2AF1 PRDM10 LCOR H2AC18 GAPDH
33 autosomal genetic disease 10.3 U2AF1 PRDM10 LCOR H2AC18 GAPDH
34 polyomavirus-associated nephropathy 10.3 H2AC18 GAPDH
35 suppression of tumorigenicity 12 10.3 U2AF1 PRDM10 H2AC18 GAPDH ACTB
36 bone inflammation disease 10.3 LCOR H2AC18 GAPDH
37 retinitis pigmentosa 24 10.2 SLC27A5 PYDC1 PRKG1 H2AC18 GALK1 CTCF
38 ovarian disease 10.2 ZP3 PRDM10 H2AC18 GAPDH
39 wilms tumor 1 10.2 U2AF1 H2AC18 GAPDH CTCF
40 eye disease 10.2 U2AF1 SLC27A5 PRDM10 H2AC18 GAPDH
41 pelizaeus-merzbacher disease 10.2 PYDC1 PRKG1 PRDM10 H2AC18 GAPDH ADCY10
42 muscular disease 10.2 U2AF1 PRDM10 H2AC18 GAPDH ACTG1 ACTB
43 specific developmental disorder 10.1 U2AF1 PRDM10 H2AC18
44 leukemia, acute myeloid 10.1 U2AF1 PRDM10 LCOR H2AC18 GAPDH CTCF
45 joubert syndrome 1 10.1
46 simpson-golabi-behmel syndrome, type 2 10.1
47 orofaciodigital syndrome i 10.1
48 retinoschisis 1, x-linked, juvenile 10.1
49 yemenite deaf-blind hypopigmentation syndrome 10.1
50 leber congenital amaurosis 10.1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 23:



Diseases related to Retinitis Pigmentosa 23

Symptoms & Phenotypes for Retinitis Pigmentosa 23

Human phenotypes related to Retinitis Pigmentosa 23:

31
# Description HPO Frequency HPO Source Accession
1 posterior subcapsular cataract 31 occasional (7.5%) HP:0007787
2 rod-cone dystrophy 31 HP:0000510
3 color vision defect 31 HP:0000551

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
decreased visual acuity (in early childhood)
decreased visual fields
decreased night vision
abnormal color vision
retinal pigment epithelium atrophy
more

Clinical features from OMIM:

300424

Drugs & Therapeutics for Retinitis Pigmentosa 23

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 23

Genetic Tests for Retinitis Pigmentosa 23

Genetic tests related to Retinitis Pigmentosa 23:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 23 29 OFD1

Anatomical Context for Retinitis Pigmentosa 23

MalaCards organs/tissues related to Retinitis Pigmentosa 23:

40
Eye, Retina, Ovary, Tongue, Bone, Kidney, Liver

Publications for Retinitis Pigmentosa 23

Articles related to Retinitis Pigmentosa 23:

(show all 35)
# Title Authors PMID Year
1
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). 61 56 6
22619378 2012
2
Evidence for a new locus for X-linked retinitis pigmentosa (RP23). 61 56 6
10892847 2000
3
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
4
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
5
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
6
X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. 56
7611300 1995
7
Ablation of NTPDase2+ cells inhibits the formation of filiform papillae in tongue tip. 61
30891559 2018
8
Application of droplet digital PCR in the analysis of genome integration and organization of the transgene in BAC transgenic mice. 61
29703985 2018
9
Assessment of mineral phosphate-solubilizing properties and molecular characterization of zinc-tolerant bacteria. 61
22359218 2012
10
Generation and characterization of Col10a1-mcherry reporter mice. 61
21328521 2011
11
Identification and characterization of Ixodes scapularis antigens that elicit tick immunity using yeast surface display. 61
21246036 2011
12
[Construction and identification of primary open angle glaucoma disease MYOC Pro356Leu mutant plasmid in mouse]. 61
21166044 2010
13
TGF-beta activates Akt kinase through a microRNA-dependent amplifying circuit targeting PTEN. 61
19543271 2009
14
Comparison of two PCR protocols for the detection of Neospora caninum DNA in rodents. 61
19036521 2009
15
Defining the expression pattern of the LGI1 gene in BAC transgenic mice. 61
17565425 2007
16
BAC constructs in transgenic reporter mouse lines control efficient and specific LacZ expression in hypertrophic chondrocytes under the complete Col10a1 promoter. 61
17051351 2007
17
A novel locus for X-linked retinitis pigmentosa. 61
16902723 2006
18
Analysis of rhizobacterial communities in perennial Graminaceae from polluted water meadow soil, and screening of metal-resistant, potentially plant growth-promoting bacteria. 61
16329902 2005
19
Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes. 61
15755806 2005
20
Effect of the Chinese traditional medicine "Bushen Yinao Pian" on the cerebral gene expression of the senescence-accelerated mouse prone 8/ta. 61
16173537 2005
21
Identification and characterization of human FOXN6, mouse Foxn6, and rat Foxn6 genes in silico. 61
15202009 2004
22
Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon. 61
15010812 2004
23
Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats. 61
14532992 2003
24
Peas-Mea1-Ppp2r5d overlapping gene complex: a transposon mediated-gene formation in mammals. 61
12755172 2003
25
Gene structure of the murine 2'-5'-oligoadenylate synthetase family. 61
12222967 2002
26
Organization of six functional mouse alcohol dehydrogenase genes on two overlapping bacterial artificial chromosomes. 61
11784316 2002
27
Cloning and identification of MYPT3: a prenylatable myosin targetting subunit of protein phosphatase 1. 61
11336659 2001
28
[Expression of rice dwarf virus outer coat protein gene(S8) in insect cells]. 61
12549020 2001
29
Ophthalmic and visual profile of guide dog owners in Scotland. 61
10434873 1999
30
Ribosomal proteins in cell proliferation and apoptosis. 61
10672495 1999
31
A leucine zipper-like motif and a basic region-leucine zipper-like element in rat ribosomal protein L13a. Identification of the tum- transplantation antigen P198. 61
8119894 1994
32
Estimation of genetic (co)variances for milk yield in first three lactations using an animal model and restricted maximum likelihood. 61
3584618 1987
33
Establishment of lymphoblastoid cell lines from Marek's disease primary tumors. 61
6314315 1983
34
X-linked retinitis pigmentosa. 61
1138842 1975
35
[Studies on retinitis pigmentosa. 23. Dehydrogenases in the C3H mouse retina]. 61
6070914 1967

Variations for Retinitis Pigmentosa 23

ClinVar genetic disease variations for Retinitis Pigmentosa 23:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 OFD1 NM_003611.3(OFD1):c.935+706A>GSNV Pathogenic 101499 rs730880283 X:13768358-13768358 X:13750239-13750239
2 OFD1 NM_003611.3(OFD1):c.892G>A (p.Gly298Arg)SNV Conflicting interpretations of pathogenicity 532267 rs778349684 X:13767609-13767609 X:13749490-13749490
3 OFD1 NM_003611.3(OFD1):c.324G>A (p.Met108Ile)SNV Uncertain significance 571289 rs763219658 X:13756976-13756976 X:13738857-13738857

Expression for Retinitis Pigmentosa 23

Search GEO for disease gene expression data for Retinitis Pigmentosa 23.

Pathways for Retinitis Pigmentosa 23

Pathways related to Retinitis Pigmentosa 23 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 ACTG1 ACTB

GO Terms for Retinitis Pigmentosa 23

Cellular components related to Retinitis Pigmentosa 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dense body GO:0097433 8.62 ACTG1 ACTB

Biological processes related to Retinitis Pigmentosa 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction assembly GO:0034329 9.16 ACTG1 ACTB
2 postsynaptic actin cytoskeleton organization GO:0098974 8.96 ACTG1 ACTB
3 retina homeostasis GO:0001895 8.8 POTEF ACTG1 ACTB

Molecular functions related to Retinitis Pigmentosa 23 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of postsynaptic actin cytoskeleton GO:0098973 8.62 ACTG1 ACTB

Sources for Retinitis Pigmentosa 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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