RP23
MCID: RTN052
MIFTS: 28

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 58 12 54 76 30 13 6 15
Rp23 58 12 76
Retinitis Pigmentosa, Type 23 41
Rp23 Gene 74
Rp 23 54

Characteristics:

OMIM:

58
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:

33
retinitis pigmentosa 23:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110412
OMIM 58 300424
MeSH 45 D012174
ICD10 34 H35.5
UMLS 74 C1419610

Summaries for Retinitis Pigmentosa 23

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Retinitis Pigmentosa 23 is OFD1 (OFD1 Centriole And Centriolar Satellite Protein). Affiliated tissues include eye, 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.

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
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 10.2
2 leber congenital amaurosis 4 10.2
3 retinitis 10.2
4 orofaciodigital syndrome i 10.1

Symptoms & Phenotypes for Retinitis Pigmentosa 23

Human phenotypes related to Retinitis Pigmentosa 23:

33
# Description HPO Frequency HPO Source Accession
1 posterior subcapsular cataract 33 occasional (7.5%) HP:0007787
2 rod-cone dystrophy 33 HP:0000510
3 color vision defect 33 HP:0000551

Symptoms via clinical synopsis from OMIM:

58
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

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 30 OFD1

Anatomical Context for Retinitis Pigmentosa 23

MalaCards organs/tissues related to Retinitis Pigmentosa 23:

42
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.324G> A (p.Met108Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 13756976: 13756976
2 OFD1 NM_003611.2(OFD1): c.324G> A (p.Met108Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 13738857: 13738857
3 OFD1 NM_003611.2(OFD1): c.892G> A (p.Gly298Arg) single nucleotide variant Uncertain significance rs778349684 GRCh37 Chromosome X, 13767609: 13767609
4 OFD1 NM_003611.2(OFD1): c.892G> A (p.Gly298Arg) single nucleotide variant Uncertain significance rs778349684 GRCh38 Chromosome X, 13749490: 13749490
5 OFD1 NM_003611.2(OFD1): c.935+706A> G single nucleotide variant Pathogenic rs730880283 GRCh37 Chromosome X, 13768358: 13768358
6 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

Sources for Retinitis Pigmentosa 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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