MCID: RTN052
MIFTS: 29

Retinitis Pigmentosa 23

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 23

MalaCards integrated aliases for Retinitis Pigmentosa 23:

Name: Retinitis Pigmentosa 23 53 12 49 71 28 13 14
Rp23 53 12 71
Rp23 Gene 69
Rp 23 49

Characteristics:

OMIM:

53
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 on electroretinography.


HPO:

31
retinitis pigmentosa 23:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 53 300424
Disease Ontology 12 DOID:0110412
ICD10 32 H35.5
MeSH 41 D012174
UMLS 69 C1419610

Summaries for Retinitis Pigmentosa 23

UniProtKB/Swiss-Prot : 71 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 leber congenital amaurosis 4, and has symptoms including rod-cone dystrophy, abnormality of color vision and posterior subcapsular cataract. An important gene associated with Retinitis Pigmentosa 23 is OFD1 (OFD1, Centriole And Centriolar Satellite Protein). Affiliated tissues include eye.

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

Description from OMIM: 300424

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 Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.0
2 leber congenital amaurosis 4 10.0
3 retinitis 10.0
4 meckel syndrome, type 1 9.7 NEK4 OFD1

Symptoms & Phenotypes for Retinitis Pigmentosa 23

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
decreased visual acuity in early childhood
decreased visual fields
decreased night vision
abnormal color vision
atrophy of retinal pigment epithelium
more

Clinical features from OMIM:

300424

Human phenotypes related to Retinitis Pigmentosa 23:

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

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 28 OFD1

Anatomical Context for Retinitis Pigmentosa 23

MalaCards organs/tissues related to Retinitis Pigmentosa 23:

38
Eye

Publications for Retinitis Pigmentosa 23

Articles related to Retinitis Pigmentosa 23:

# Title Authors Year
1
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). ( 22619378 )
2012
2
Evidence for a new locus for X-linked retinitis pigmentosa (RP23). ( 10892847 )
2000

Variations for Retinitis Pigmentosa 23

ClinVar genetic disease variations for Retinitis Pigmentosa 23:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OFD1 NM_003611.2(OFD1): c.935+706A> G single nucleotide variant Pathogenic rs730880283 GRCh38 Chromosome X, 13750239: 13750239

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 ciliary basal body GO:0036064 8.62 NEK4 OFD1

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

# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 8.62 NEK4 OFD1

Sources for Retinitis Pigmentosa 23

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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