RP83
MCID: RTN217
MIFTS: 23

Retinitis Pigmentosa 83 (RP83)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 83

MalaCards integrated aliases for Retinitis Pigmentosa 83:

Name: Retinitis Pigmentosa 83 58 76 6
Rp83 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on independent reports of 2 families (last curated april 2019)


Classifications:



Summaries for Retinitis Pigmentosa 83

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 83: An autosomal dominant form of retinitis pigmentosa, 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 83, is also known as rp83. An important gene associated with Retinitis Pigmentosa 83 is ARL3 (ADP Ribosylation Factor Like GTPase 3). Affiliated tissues include bone and eye, and related phenotypes are cystoid macular edema and cataract

OMIM : 58 Retinitis pigmentosa-83 (RP83) is characterized by onset of night blindness in the first decade of life, with decreased central vision in the second decade of life in association with retinal degeneration. The retinal dystrophy is associated with cataract, and macular edema has also been reported in some patients (Holtan et al., 2019). (618173)

Related Diseases for Retinitis Pigmentosa 83

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

Symptoms & Phenotypes for Retinitis Pigmentosa 83

Human phenotypes related to Retinitis Pigmentosa 83:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 33 very rare (1%) HP:0011505
2 cataract 33 HP:0000518
3 reduced visual acuity 33 HP:0007663
4 nyctalopia 33 HP:0000662
5 rod-cone dystrophy 33 HP:0000510
6 constriction of peripheral visual field 33 HP:0001133
7 vitreous floaters 33 HP:0100832

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
vitreous floaters
decreased visual acuity
night blindness
retinitis pigmentosa
constricted visual fields
more

Clinical features from OMIM:

618173

Drugs & Therapeutics for Retinitis Pigmentosa 83

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 83

Genetic Tests for Retinitis Pigmentosa 83

Anatomical Context for Retinitis Pigmentosa 83

MalaCards organs/tissues related to Retinitis Pigmentosa 83:

42
Bone, Eye

Publications for Retinitis Pigmentosa 83

Articles related to Retinitis Pigmentosa 83:

# Title Authors Year
1
Dominant ARL3-related retinitis pigmentosa. ( 30932721 )
2019
2
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. ( 26964041 )
2016

Variations for Retinitis Pigmentosa 83

ClinVar genetic disease variations for Retinitis Pigmentosa 83:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARL3 NM_004311.3(ARL3): c.269A> G (p.Tyr90Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 102689939: 102689939
2 ARL3 NM_004311.3(ARL3): c.269A> G (p.Tyr90Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 104449696: 104449696

Expression for Retinitis Pigmentosa 83

Search GEO for disease gene expression data for Retinitis Pigmentosa 83.

Pathways for Retinitis Pigmentosa 83

GO Terms for Retinitis Pigmentosa 83

Sources for Retinitis Pigmentosa 83

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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