MCID: RTN052
MIFTS: 28

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 57 12 53 75 29 13 6 15
Rp23 57 12 75
Retinitis Pigmentosa, Type 23 40
Rp23 Gene 73
Rp 23 53

Characteristics:

OMIM:

57
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:

32
retinitis pigmentosa 23:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300424
Disease Ontology 12 DOID:0110412
ICD10 33 H35.5
MeSH 44 D012174
UMLS 73 C1419610

Summaries for Retinitis Pigmentosa 23

UniProtKB/Swiss-Prot : 75 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 rod-cone dystrophy and abnormality of color vision

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 10.1
2 leber congenital amaurosis 4 10.1
3 retinitis 10.1
4 meckel syndrome, type 1 9.9 NEK4 OFD1
5 trehalase deficiency 9.1 OFD1 PGAP3 PPP2R5D

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



Diseases related to Retinitis Pigmentosa 23

Symptoms & Phenotypes for Retinitis Pigmentosa 23

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 abnormality of color vision 32 HP:0000551
3 posterior subcapsular cataract 32 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 29 OFD1

Anatomical Context for Retinitis Pigmentosa 23

MalaCards organs/tissues related to Retinitis Pigmentosa 23:

41
Eye

Publications for Retinitis Pigmentosa 23

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
2 OFD1 NM_003611.2(OFD1): c.935+706A> G single nucleotide variant Pathogenic rs730880283 GRCh37 Chromosome X, 13768358: 13768358

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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