RP66
MCID: RTN152
MIFTS: 34

Retinitis Pigmentosa 66 (RP66)

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

Aliases & Classifications for Retinitis Pigmentosa 66

MalaCards integrated aliases for Retinitis Pigmentosa 66:

Name: Retinitis Pigmentosa 66 57 12 72 29 6 15 70
Rp66 57 12 72
Retinitis Pigmentosa, Type 66 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
wide range of severity between affected members of the same family


HPO:

31
retinitis pigmentosa 66:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110393
OMIM® 57 615233
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
UMLS 70 C3715216

Summaries for Retinitis Pigmentosa 66

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 66: 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 66, also known as rp66, is related to fundus dystrophy and cone-rod dystrophy 2. An important gene associated with Retinitis Pigmentosa 66 is RBP3 (Retinol Binding Protein 3), and among its related pathways/superpathways is Integration of energy metabolism. Affiliated tissues include eye, retina and bone, and related phenotypes are optic disc pallor and reduced visual acuity

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RBP3 gene on chromosome 10q11.

More information from OMIM: 615233 PS268000

Related Diseases for Retinitis Pigmentosa 66

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

Diseases related to Retinitis Pigmentosa 66 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fundus dystrophy 9.4 RBP3 ARL3 ARL2BP
2 cone-rod dystrophy 2 9.3 RBP3 ARL3 ARL2BP
3 retinitis pigmentosa 2 9.3 ARL3 ARL2BP ARL2
4 retinitis pigmentosa 9.1 RBP3 ARL3 ARL2BP ARL2

Symptoms & Phenotypes for Retinitis Pigmentosa 66

Human phenotypes related to Retinitis Pigmentosa 66:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 31 occasional (7.5%) HP:0000543
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 central scotoma 31 HP:0000603
7 posterior subcapsular cataract 31 HP:0007787

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
central scotoma
decreased visual acuity
night blindness
attenuated retinal vessels
visual field constriction
more

Clinical features from OMIM®:

615233 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 66

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 66

Genetic Tests for Retinitis Pigmentosa 66

Genetic tests related to Retinitis Pigmentosa 66:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 66 29 RBP3

Anatomical Context for Retinitis Pigmentosa 66

MalaCards organs/tissues related to Retinitis Pigmentosa 66:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 66

Articles related to Retinitis Pigmentosa 66:

# Title Authors PMID Year
1
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 6 57
19074801 2009
2
Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). 6
23486466 2013
3
Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations. 57
21067480 2010
4
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. 61
23849777 2013
5
Genetic analysis of a unique bacteriocin, Smb, produced by Streptococcus mutans GS5. 61
15673730 2005
6
Recombinant p51 as antigen in an immune complex transfer enzyme immunoassay of immunoglobulin G antibody to human immunodeficiency virus type 1. 61
11063508 2000
7
Preparations of recombinant HIV-1 p66 antigen to improve the specificity of immune complex transfer enzyme immunoassay of antibody IgG to HIV-1 reverse transcriptase. 61
10906770 2000
8
A nuclear protein associated with human cancer cells binds preferentially to a human repetitive DNA sequence. 61
2813405 1989

Variations for Retinitis Pigmentosa 66

ClinVar genetic disease variations for Retinitis Pigmentosa 66:

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RBP3 NM_002900.3(RBP3):c.3238G>A (p.Asp1080Asn) SNV Pathogenic 50368 rs146150511 GRCh37: 10:48385854-48385854
GRCh38: 10:47353508-47353508
2 RBP3 NM_002900.3(RBP3):c.1408del (p.Asp470fs) Deletion Likely pathogenic 869149 GRCh37: 10:48389470-48389470
GRCh38: 10:47349891-47349891
3 RBP3 NM_002900.3(RBP3):c.2503G>A (p.Gly835Ser) SNV Uncertain significance 208319 rs782480179 GRCh37: 10:48388375-48388375
GRCh38: 10:47350987-47350987
4 RBP3 NM_002900.3(RBP3):c.2063C>T (p.Ala688Val) SNV Uncertain significance 208313 rs200168559 GRCh37: 10:48388815-48388815
GRCh38: 10:47350547-47350547
5 RBP3 NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg) SNV Uncertain significance 208321 rs548622709 GRCh37: 10:48388115-48388115
GRCh38: 10:47351247-47351247
6 RBP3 NM_002900.3(RBP3):c.800G>A (p.Arg267Gln) SNV Uncertain significance 208297 rs200239015 GRCh37: 10:48390078-48390078
GRCh38: 10:47349284-47349284
7 RBP3 NM_002900.3(RBP3):c.2497C>T (p.Arg833Cys) SNV Uncertain significance 208318 rs142945423 GRCh37: 10:48388381-48388381
GRCh38: 10:47350981-47350981
8 RBP3 NM_002900.3(RBP3):c.1298C>T (p.Ser433Leu) SNV Uncertain significance 208304 rs375761633 GRCh37: 10:48389580-48389580
GRCh38: 10:47349782-47349782
9 RBP3 NM_002900.3(RBP3):c.962C>T (p.Thr321Ile) SNV Uncertain significance 208299 rs376854254 GRCh37: 10:48389916-48389916
GRCh38: 10:47349446-47349446
10 RBP3 NM_002900.3(RBP3):c.1603C>T (p.Arg535Cys) SNV Uncertain significance 208308 rs143632019 GRCh37: 10:48389275-48389275
GRCh38: 10:47350087-47350087
11 RBP3 NM_002900.3(RBP3):c.3175G>A (p.Val1059Ile) SNV Uncertain significance 208324 rs864622002 GRCh37: 10:48385917-48385917
GRCh38: 10:47353445-47353445
12 RBP3 NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) SNV Uncertain significance 167571 rs149642039 GRCh37: 10:48389038-48389038
GRCh38: 10:47350324-47350324
13 RBP3 NM_002900.3(RBP3):c.1631G>A (p.Arg544His) SNV Uncertain significance 94087 rs41284962 GRCh37: 10:48389247-48389247
GRCh38: 10:47350115-47350115
14 RBP3 NM_002900.3(RBP3):c.3581C>T (p.Thr1194Met) SNV Uncertain significance 208325 rs782099994 GRCh37: 10:48382068-48382068
GRCh38: 10:47357294-47357294
15 RBP3 NM_002900.3(RBP3):c.2239C>T (p.Arg747Cys) SNV Uncertain significance 208316 rs782664364 GRCh37: 10:48388639-48388639
GRCh38: 10:47350723-47350723
16 RBP3 NM_002900.3(RBP3):c.2077G>A (p.Val693Met) SNV Uncertain significance 208314 rs112888313 GRCh37: 10:48388801-48388801
GRCh38: 10:47350561-47350561
17 RBP3 NM_002900.3(RBP3):c.1135G>A (p.Ala379Thr) SNV Uncertain significance 208301 rs781840247 GRCh37: 10:48389743-48389743
GRCh38: 10:47349619-47349619
18 RBP3 NM_002900.3(RBP3):c.1514A>T (p.His505Leu) SNV Uncertain significance 193241 rs201808774 GRCh37: 10:48389364-48389364
GRCh38: 10:47349998-47349998
19 RBP3 NM_002900.3(RBP3):c.2866G>A (p.Glu956Lys) SNV Uncertain significance 208322 rs781847641 GRCh37: 10:48388012-48388012
GRCh38: 10:47351350-47351350
20 RBP3 NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) SNV Uncertain significance 208310 rs144289912 GRCh37: 10:48389083-48389083
GRCh38: 10:47350279-47350279
21 RBP3 NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) SNV Uncertain significance 193244 rs368898051 GRCh37: 10:48389905-48389905
GRCh38: 10:47349457-47349457
22 RBP3 NM_002900.3(RBP3):c.2024C>T (p.Thr675Ile) SNV Uncertain significance 208312 rs864622000 GRCh37: 10:48388854-48388854
GRCh38: 10:47350508-47350508
23 RBP3 NM_002900.3(RBP3):c.463G>A (p.Val155Met) SNV Uncertain significance 208294 rs782157576 GRCh37: 10:48390415-48390415
GRCh38: 10:47348947-47348947
24 RBP3 NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) SNV Uncertain significance 193243 rs148247227 GRCh37: 10:48388710-48388710
GRCh38: 10:47350652-47350652
25 RBP3 NM_002900.3(RBP3):c.2888C>T (p.Thr963Ile) SNV Uncertain significance 208323 rs200706310 GRCh37: 10:48387990-48387990
GRCh38: 10:47351372-47351372
26 RBP3 NM_002900.3(RBP3):c.2708C>G (p.Thr903Arg) SNV Uncertain significance 208320 rs373766942 GRCh37: 10:48388170-48388170
GRCh38: 10:47351192-47351192
27 RBP3 NM_002900.3(RBP3):c.2355C>A (p.Asn785Lys) SNV Uncertain significance 208317 rs864622001 GRCh37: 10:48388523-48388523
GRCh38: 10:47350839-47350839
28 RBP3 NM_002900.3(RBP3):c.487T>C (p.Ser163Pro) SNV Uncertain significance 208295 rs35686775 GRCh37: 10:48390391-48390391
GRCh38: 10:47348971-47348971
29 RBP3 NM_002900.3(RBP3):c.53G>T (p.Gly18Val) SNV Uncertain significance 208292 rs864621997 GRCh37: 10:48390825-48390825
GRCh38: 10:47348537-47348537
30 RBP3 NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg) SNV Uncertain significance 208306 rs563600593 GRCh37: 10:48389325-48389325
GRCh38: 10:47350037-47350037
31 RBP3 NM_002900.3(RBP3):c.2221G>A (p.Gly741Ser) SNV Uncertain significance 208315 rs143110000 GRCh37: 10:48388657-48388657
GRCh38: 10:47350705-47350705
32 RBP3 NM_002900.3(RBP3):c.1037G>A (p.Arg346His) SNV Uncertain significance 208300 rs111245635 GRCh37: 10:48389841-48389841
GRCh38: 10:47349521-47349521
33 RBP3 NM_002900.3(RBP3):c.844G>A (p.Val282Met) SNV Uncertain significance 208298 rs782095820 GRCh37: 10:48390034-48390034
GRCh38: 10:47349328-47349328
34 RBP3 NM_002900.3(RBP3):c.1569C>G (p.His523Gln) SNV Uncertain significance 208307 rs148093336 GRCh37: 10:48389309-48389309
GRCh38: 10:47350053-47350053
35 RBP3 NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) SNV Uncertain significance 195184 rs148591757 GRCh37: 10:48386030-48386030
GRCh38: 10:47353332-47353332
36 RBP3 NM_002900.3(RBP3):c.1327C>A (p.Arg443Ser) SNV Uncertain significance 208305 rs864621999 GRCh37: 10:48389551-48389551
GRCh38: 10:47349811-47349811
37 RBP3 NM_002900.3(RBP3):c.586G>A (p.Val196Met) SNV Uncertain significance 208296 rs782398712 GRCh37: 10:48390292-48390292
GRCh38: 10:47349070-47349070
38 RBP3 NM_002900.3(RBP3):c.1844C>T (p.Ala615Val) SNV Uncertain significance 208311 rs368920246 GRCh37: 10:48389034-48389034
GRCh38: 10:47350328-47350328
39 RBP3 NM_002900.3(RBP3):c.365G>A (p.Arg122His) SNV Uncertain significance 208293 rs41302693 GRCh37: 10:48390513-48390513
GRCh38: 10:47348849-47348849
40 RBP3 NM_002900.3(RBP3):c.1778T>C (p.Val593Ala) SNV Uncertain significance 208309 rs782233167 GRCh37: 10:48389100-48389100
GRCh38: 10:47350262-47350262

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 66:

72
# Symbol AA change Variation ID SNP ID
1 RBP3 p.Asp1080Asn VAR_069706 rs146150511

Expression for Retinitis Pigmentosa 66

Search GEO for disease gene expression data for Retinitis Pigmentosa 66.

Pathways for Retinitis Pigmentosa 66

GO Terms for Retinitis Pigmentosa 66

Cellular components related to Retinitis Pigmentosa 66 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.4 ARL3 ARL2BP
2 microtubule cytoskeleton GO:0015630 9.37 ARL3 ARL2
3 centrosome GO:0005813 9.33 ARL3 ARL2BP ARL2
4 midbody GO:0030496 9.32 ARL3 ARL2BP
5 mitochondrial intermembrane space GO:0005758 9.26 ARL2BP ARL2
6 microtubule organizing center GO:0005815 9.13 ARL3 ARL2BP ARL2
7 cilium GO:0005929 8.8 ARL3 ARL2BP ARL2

Biological processes related to Retinitis Pigmentosa 66 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of insulin secretion GO:0050796 8.96 ARL2BP ARL2
2 maintenance of protein location in nucleus GO:0051457 8.62 ARL2BP ARL2

Molecular functions related to Retinitis Pigmentosa 66 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 8.96 RBP3 KLK3
2 GDP binding GO:0019003 8.62 ARL3 ARL2

Sources for Retinitis Pigmentosa 66

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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