RP83
MCID: RTN217
MIFTS: 21

Retinitis Pigmentosa 83 (RP83)

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

Aliases & Classifications for Retinitis Pigmentosa 83

MalaCards integrated aliases for Retinitis Pigmentosa 83:

Name: Retinitis Pigmentosa 83 57 12 72 29 6
Rp83 57 12 72
Retinitis Pigmentosa, Type 83 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
retinitis pigmentosa 83:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112140
OMIM® 57 618173
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174

Summaries for Retinitis Pigmentosa 83

UniProtKB/Swiss-Prot : 72 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 eye and bone, and related phenotypes are cystoid macular edema and reduced visual acuity

Disease Ontology : 12 A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has material basis in heterozygous mutation in ARL3 on chromosome 10q24.32.

OMIM® : 57 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) (Updated 20-May-2021)

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 83

Human phenotypes related to Retinitis Pigmentosa 83:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 cystoid macular edema 31 very rare (1%) HP:0011505
2 reduced visual acuity 31 HP:0007663
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 constriction of peripheral visual field 31 HP:0001133
6 vitreous floaters 31 HP:0100832
7 subcapsular cataract 31 HP:0000523
8 asteroid hyalosis 31 HP:0030672

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
vitreous floaters
decreased visual acuity
night blindness
retinitis pigmentosa
constricted visual fields
more

Clinical features from OMIM®:

618173 (Updated 20-May-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 83

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 83

Genetic Tests for Retinitis Pigmentosa 83

Genetic tests related to Retinitis Pigmentosa 83:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 83 29 ARL3

Anatomical Context for Retinitis Pigmentosa 83

MalaCards organs/tissues related to Retinitis Pigmentosa 83:

40
Eye, Bone

Publications for Retinitis Pigmentosa 83

Articles related to Retinitis Pigmentosa 83:

# Title Authors PMID Year
1
Dominant ARL3-related retinitis pigmentosa. 61 6 57
30932721 2019
2
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. 57 6
26964041 2016

Variations for Retinitis Pigmentosa 83

ClinVar genetic disease variations for Retinitis Pigmentosa 83:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARL3 NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys) SNV Uncertain significance 587684 rs1564730440 GRCh37: 10:104449696-104449696
GRCh38: 10:102689939-102689939

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....