RP23
MCID: RTN052
MIFTS: 37

Retinitis Pigmentosa 23 (RP23)

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

Aliases & Classifications for Retinitis Pigmentosa 23

MalaCards integrated aliases for Retinitis Pigmentosa 23:

Name: Retinitis Pigmentosa 23 57 12 20 73 29 13 6 15
Rp23 57 12 73
Retinitis Pigmentosa, Type 23 39
Rp23 Gene 71
Rp 23 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 300424
OMIM Phenotypic Series 57 PS268000
MeSH 44 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 leber plus disease and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 23 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein). Affiliated tissues include retina, eye and tongue, and related phenotypes are posterior subcapsular cataract and color vision defect

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

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

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 leber plus disease 30.1 RPGR PTPRC OFD1 GAPDH ACTB
2 retinitis pigmentosa 28.8 ZP3 U2AF1 RPGR PYDC1 PTPRC POTEF
3 loeys-dietz syndrome 10.4 H2AC18 GAPDH ACTB
4 baraitser-winter cerebrofrontofacial syndrome 10.4 ACTG1 ACTB
5 teeth hard tissue disease 10.4 LCOR H2AC18 ACTB
6 retinitis pigmentosa 34 10.4 RPGR OFD1
7 baraitser-winter syndrome 10.4 POTEF ACTG1 ACTB
8 retinitis pigmentosa 18 10.4 H2AC18 GAPDH ACTB
9 pre-malignant neoplasm 10.4 LCOR H2AC18 ACTB
10 splenic disease 10.4 U2AF1 IGHV4-38-2 H2AC18
11 listeriosis 10.4 PYDC1 PTPRC H2AC18
12 spherocytosis, type 1 10.4 IGHV4-38-2 H2AC18 CNOT1
13 mulibrey nanism 10.4 H2AC18 GAPDH ACTB
14 ovary adenocarcinoma 10.4 H2AC18 GAPDH ACTB
15 leukemia, acute monocytic 10.4 U2AF1 H2AC18 GAPDH ACTB
16 kaufman oculocerebrofacial syndrome 10.4 H2AC18 GAPDH ACTB
17 suppression of tumorigenicity 12 10.3 U2AF1 H2AC18 GAPDH ACTB
18 lens disease 10.3 H2AC18 GAPDH GALK1 ACTB
19 amelogenesis imperfecta, type ig 10.3 LCOR H2AC18 GAPDH ACTB
20 amelogenesis imperfecta 10.3 LCOR H2AC18 GAPDH ACTB
21 spinal muscular atrophy, type i 10.3 CNOT1 ADCY10 ACTB
22 wilson-turner x-linked mental retardation syndrome 10.3 H2AC18 GAPDH ACTB
23 cervix carcinoma 10.3 U2AF1 H2AC18 GAPDH ACTB
24 hair disease 10.3 H2AC18 GAPDH ACTB
25 hypotrichosis 2 10.3 H2AC18 GAPDH CTCF ACTB
26 ovary epithelial cancer 10.3 U2AF1 H2AC18 GAPDH ACTB
27 autonomic nervous system neoplasm 10.3 U2AF1 H2AC18 GAPDH ACTB
28 spherocytosis, type 4 10.3 PYDC1 IGHV4-38-2 H2AC18 CTCF
29 specific developmental disorder 10.3 U2AF1 H2AC18 GAPDH ACTB
30 actinomycosis 10.3 PTPRC H2AC18 GAPDH ACTB
31 monoclonal gammopathy of uncertain significance 10.3 U2AF1 PTPRC IGHV4-38-2
32 blood protein disease 10.3 PTPRC IGHV4-38-2 H2AC18
33 drug-induced lupus erythematosus 10.3 PTPRC H2AC18 GAPDH ACTB
34 hyperoxaluria, primary, type i 10.3 LCOR H2AC18 CTCF
35 loeys-dietz syndrome 2 10.3 PYDC1 GAPDH ADCY10 ACTB
36 spinal disease 10.3 U2AF1 H2AC18 GAPDH ACTB
37 hereditary lymphedema 10.3 PTPRC H2AC18 GAPDH ACTB
38 hereditary lymphedema i 10.3 PTPRC H2AC18 GAPDH ACTB
39 ectodermal dysplasia 1, hypohidrotic, x-linked 10.3 PTPRC H2AC18 GAPDH ACTB
40 toxic encephalopathy 10.3 H2AC18 GAPDH CHAT ACTB
41 hypomyelinating leukodystrophy 10.3 H2AC18 GAPDH ADCY10 ACTB
42 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3 U2AF1 H2AC18 GAPDH ACTB
43 malignant astrocytoma 10.3 U2AF1 H2AC18 GAPDH ACTB
44 hypotrichosis 1 10.3 PTPRC H2AC18 GAPDH ACTB
45 nervous system disease 10.3 U2AF1 LCOR H2AC18 GAPDH ACTB
46 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.3 PTPRC H2AC18 GAPDH ACTB
47 mature b-cell neoplasm 10.3 U2AF1 PTPRC IGHV4-38-2 H2AC18
48 peripheral nervous system neoplasm 10.3 U2AF1 LCOR H2AC18 GAPDH ACTB
49 kabuki syndrome 1 10.3 IGHV4-38-2 H2AC18 GAPDH ACTB
50 leukocyte disease 10.3 U2AF1 PTPRC IGHV4-38-2 H2AC18

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 color vision defect 31 HP:0000551
3 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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
Retina, Eye, Tongue

Publications for Retinitis Pigmentosa 23

Articles related to Retinitis Pigmentosa 23:

(show all 33)
# 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 57 6
22619378 2012
2
Evidence for a new locus for X-linked retinitis pigmentosa (RP23). 61 6 57
10892847 2000
3
X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. 57
7611300 1995
4
Genetic spectrum of retinal dystrophies in Tunisia. 61
32641690 2020
5
Ablation of NTPDase2+ cells inhibits the formation of filiform papillae in tongue tip. 61
30891559 2018
6
Application of droplet digital PCR in the analysis of genome integration and organization of the transgene in BAC transgenic mice. 61
29703985 2018
7
Assessment of mineral phosphate-solubilizing properties and molecular characterization of zinc-tolerant bacteria. 61
22359218 2012
8
Generation and characterization of Col10a1-mcherry reporter mice. 61
21328521 2011
9
Identification and characterization of Ixodes scapularis antigens that elicit tick immunity using yeast surface display. 61
21246036 2011
10
[Construction and identification of primary open angle glaucoma disease MYOC Pro356Leu mutant plasmid in mouse]. 61
21166044 2010
11
TGF-beta activates Akt kinase through a microRNA-dependent amplifying circuit targeting PTEN. 61
19543271 2009
12
Comparison of two PCR protocols for the detection of Neospora caninum DNA in rodents. 61
19036521 2009
13
Defining the expression pattern of the LGI1 gene in BAC transgenic mice. 61
17565425 2007
14
BAC constructs in transgenic reporter mouse lines control efficient and specific LacZ expression in hypertrophic chondrocytes under the complete Col10a1 promoter. 61
17051351 2007
15
A novel locus for X-linked retinitis pigmentosa. 61
16902723 2006
16
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
17
Segmental trisomy of chromosome 17: a mouse model of human aneuploidy syndromes. 61
15755806 2005
18
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
19
Identification and characterization of human FOXN6, mouse Foxn6, and rat Foxn6 genes in silico. 61
15202009 2004
20
Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon. 61
15010812 2004
21
Identification and characterization of human KIAA1391 and mouse Kiaa1391 genes encoding novel RhoGAP family proteins with RA domain and ANXL repeats. 61
14532992 2003
22
Peas-Mea1-Ppp2r5d overlapping gene complex: a transposon mediated-gene formation in mammals. 61
12755172 2003
23
Gene structure of the murine 2'-5'-oligoadenylate synthetase family. 61
12222967 2002
24
Organization of six functional mouse alcohol dehydrogenase genes on two overlapping bacterial artificial chromosomes. 61
11784316 2002
25
Cloning and identification of MYPT3: a prenylatable myosin targetting subunit of protein phosphatase 1. 61
11336659 2001
26
[Expression of rice dwarf virus outer coat protein gene(S8) in insect cells]. 61
12549020 2001
27
Ophthalmic and visual profile of guide dog owners in Scotland. 61
10434873 1999
28
Ribosomal proteins in cell proliferation and apoptosis. 61
10672495 1999
29
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
30
Estimation of genetic (co)variances for milk yield in first three lactations using an animal model and restricted maximum likelihood. 61
3584618 1987
31
Establishment of lymphoblastoid cell lines from Marek's disease primary tumors. 61
6314315 1983
32
X-linked retinitis pigmentosa. 61
1138842 1975
33
[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>G SNV Pathogenic 101499 rs730880283 X:13768358-13768358 X:13750239-13750239
2 OFD1 NM_003611.3(OFD1):c.324G>A (p.Met108Ile) SNV Uncertain significance 571289 rs763219658 X:13756976-13756976 X:13738857-13738857
3 OFD1 NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) SNV Uncertain significance 532267 rs778349684 X:13767609-13767609 X:13749490-13749490
4 OFD1 NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr) SNV Uncertain significance 523463 rs1394450537 X:13778578-13778578 X:13760459-13760459

Expression for Retinitis Pigmentosa 23

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

Pathways for Retinitis Pigmentosa 23

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 postsynaptic actin cytoskeleton GO:0098871 8.96 ACTG1 ACTB
2 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 9.26 ACTG1 ACTB
2 postsynaptic actin cytoskeleton organization GO:0098974 9.16 ACTG1 ACTB
3 morphogenesis of a polarized epithelium GO:0001738 8.96 ACTG1 ACTB
4 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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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