MCID: RTN152
MIFTS: 29

Retinitis Pigmentosa 66

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 66

MalaCards integrated aliases for Retinitis Pigmentosa 66:

Name: Retinitis Pigmentosa 66 57 12 75 29 6 15 73
Rp66 57 12 75
Retinitis Pigmentosa, Type 66 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
retinitis pigmentosa 66:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 66

UniProtKB/Swiss-Prot : 75 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 joubert syndrome 1 and retinitis pigmentosa. 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 bone and eye, and related phenotypes are visual impairment and rod-cone dystrophy

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

Description from OMIM: 615233

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 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 joubert syndrome 1 9.2 ARL2 ARL3
2 retinitis pigmentosa 8.3 ARL2 ARL2BP ARL3 RBP3

Symptoms & Phenotypes for Retinitis Pigmentosa 66

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
decreased visual acuity
night blindness
visual field constriction
central scotoma
bone-spicule pigment clumping
more

Clinical features from OMIM:

615233

Human phenotypes related to Retinitis Pigmentosa 66:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 optic disc pallor 32 occasional (7.5%) HP:0000543
4 central scotoma 32 HP:0000603
5 nyctalopia 32 HP:0000662
6 constriction of peripheral visual field 32 HP:0001133
7 reduced visual acuity 32 HP:0007663
8 posterior subcapsular cataract 32 HP:0007787

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:

41
Bone, Eye

Publications for Retinitis Pigmentosa 66

Variations for Retinitis Pigmentosa 66

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

75
# Symbol AA change Variation ID SNP ID
1 RBP3 p.Asp1080Asn VAR_069706 rs146150511

ClinVar genetic disease variations for Retinitis Pigmentosa 66:

6
(show top 50) (show all 76)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBP3 NM_002900.2(RBP3): c.3238G> A (p.Asp1080Asn) single nucleotide variant Pathogenic rs146150511 GRCh37 Chromosome 10, 48385854: 48385854
2 RBP3 NM_002900.2(RBP3): c.3238G> A (p.Asp1080Asn) single nucleotide variant Pathogenic rs146150511 GRCh38 Chromosome 10, 47353508: 47353508
3 RBP3 NM_002900.2(RBP3): c.1840G> A (p.Asp614Asn) single nucleotide variant Uncertain significance rs149642039 GRCh37 Chromosome 10, 48389038: 48389038
4 RBP3 NM_002900.2(RBP3): c.1840G> A (p.Asp614Asn) single nucleotide variant Uncertain significance rs149642039 GRCh38 Chromosome 10, 47350324: 47350324
5 RBP3 NM_002900.2(RBP3): c.1514A> T (p.His505Leu) single nucleotide variant Uncertain significance rs201808774 GRCh37 Chromosome 10, 48389364: 48389364
6 RBP3 NM_002900.2(RBP3): c.1514A> T (p.His505Leu) single nucleotide variant Uncertain significance rs201808774 GRCh38 Chromosome 10, 47349998: 47349998
7 RBP3 NM_002900.2(RBP3): c.2168C> T (p.Pro723Leu) single nucleotide variant Benign rs148247227 GRCh37 Chromosome 10, 48388710: 48388710
8 RBP3 NM_002900.2(RBP3): c.2168C> T (p.Pro723Leu) single nucleotide variant Benign rs148247227 GRCh38 Chromosome 10, 47350652: 47350652
9 RBP3 NM_002900.2(RBP3): c.973G> A (p.Ala325Thr) single nucleotide variant Uncertain significance rs368898051 GRCh37 Chromosome 10, 48389905: 48389905
10 RBP3 NM_002900.2(RBP3): c.973G> A (p.Ala325Thr) single nucleotide variant Uncertain significance rs368898051 GRCh38 Chromosome 10, 47349457: 47349457
11 RBP3 NM_002900.2(RBP3): c.3062C> A (p.Ser1021Tyr) single nucleotide variant Uncertain significance rs148591757 GRCh37 Chromosome 10, 48386030: 48386030
12 RBP3 NM_002900.2(RBP3): c.3062C> A (p.Ser1021Tyr) single nucleotide variant Uncertain significance rs148591757 GRCh38 Chromosome 10, 47353332: 47353332
13 RBP3 NM_002900.2(RBP3): c.487T> C (p.Ser163Pro) single nucleotide variant Uncertain significance rs35686775 GRCh38 Chromosome 10, 47348971: 47348971
14 RBP3 NM_002900.2(RBP3): c.53G> T (p.Gly18Val) single nucleotide variant Uncertain significance rs864621997 GRCh37 Chromosome 10, 48390825: 48390825
15 RBP3 NM_002900.2(RBP3): c.53G> T (p.Gly18Val) single nucleotide variant Uncertain significance rs864621997 GRCh38 Chromosome 10, 47348537: 47348537
16 RBP3 NM_002900.2(RBP3): c.365G> A (p.Arg122His) single nucleotide variant Uncertain significance rs41302693 GRCh37 Chromosome 10, 48390513: 48390513
17 RBP3 NM_002900.2(RBP3): c.365G> A (p.Arg122His) single nucleotide variant Uncertain significance rs41302693 GRCh38 Chromosome 10, 47348849: 47348849
18 RBP3 NM_002900.2(RBP3): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs782157576 GRCh37 Chromosome 10, 48390415: 48390415
19 RBP3 NM_002900.2(RBP3): c.463G> A (p.Val155Met) single nucleotide variant Uncertain significance rs782157576 GRCh38 Chromosome 10, 47348947: 47348947
20 RBP3 NM_002900.2(RBP3): c.487T> C (p.Ser163Pro) single nucleotide variant Uncertain significance rs35686775 GRCh37 Chromosome 10, 48390391: 48390391
21 RBP3 NM_002900.2(RBP3): c.586G> A (p.Val196Met) single nucleotide variant Uncertain significance rs782398712 GRCh37 Chromosome 10, 48390292: 48390292
22 RBP3 NM_002900.2(RBP3): c.586G> A (p.Val196Met) single nucleotide variant Uncertain significance rs782398712 GRCh38 Chromosome 10, 47349070: 47349070
23 RBP3 NM_002900.2(RBP3): c.800G> A (p.Arg267Gln) single nucleotide variant Uncertain significance rs200239015 GRCh37 Chromosome 10, 48390078: 48390078
24 RBP3 NM_002900.2(RBP3): c.800G> A (p.Arg267Gln) single nucleotide variant Uncertain significance rs200239015 GRCh38 Chromosome 10, 47349284: 47349284
25 RBP3 NM_002900.2(RBP3): c.844G> A (p.Val282Met) single nucleotide variant Uncertain significance rs782095820 GRCh37 Chromosome 10, 48390034: 48390034
26 RBP3 NM_002900.2(RBP3): c.844G> A (p.Val282Met) single nucleotide variant Uncertain significance rs782095820 GRCh38 Chromosome 10, 47349328: 47349328
27 RBP3 NM_002900.2(RBP3): c.962C> T (p.Thr321Ile) single nucleotide variant Uncertain significance rs376854254 GRCh37 Chromosome 10, 48389916: 48389916
28 RBP3 NM_002900.2(RBP3): c.962C> T (p.Thr321Ile) single nucleotide variant Uncertain significance rs376854254 GRCh38 Chromosome 10, 47349446: 47349446
29 RBP3 NM_002900.2(RBP3): c.1037G> A (p.Arg346His) single nucleotide variant Uncertain significance rs111245635 GRCh37 Chromosome 10, 48389841: 48389841
30 RBP3 NM_002900.2(RBP3): c.1037G> A (p.Arg346His) single nucleotide variant Uncertain significance rs111245635 GRCh38 Chromosome 10, 47349521: 47349521
31 RBP3 NM_002900.2(RBP3): c.1135G> A (p.Ala379Thr) single nucleotide variant Uncertain significance rs781840247 GRCh37 Chromosome 10, 48389743: 48389743
32 RBP3 NM_002900.2(RBP3): c.1135G> A (p.Ala379Thr) single nucleotide variant Uncertain significance rs781840247 GRCh38 Chromosome 10, 47349619: 47349619
33 RBP3 NM_002900.2(RBP3): c.1298C> T (p.Ser433Leu) single nucleotide variant Uncertain significance rs375761633 GRCh37 Chromosome 10, 48389580: 48389580
34 RBP3 NM_002900.2(RBP3): c.1298C> T (p.Ser433Leu) single nucleotide variant Uncertain significance rs375761633 GRCh38 Chromosome 10, 47349782: 47349782
35 RBP3 NM_002900.2(RBP3): c.1327C> A (p.Arg443Ser) single nucleotide variant Uncertain significance rs864621999 GRCh37 Chromosome 10, 48389551: 48389551
36 RBP3 NM_002900.2(RBP3): c.1327C> A (p.Arg443Ser) single nucleotide variant Uncertain significance rs864621999 GRCh38 Chromosome 10, 47349811: 47349811
37 RBP3 NM_002900.2(RBP3): c.1553A> G (p.Gln518Arg) single nucleotide variant Uncertain significance rs563600593 GRCh37 Chromosome 10, 48389325: 48389325
38 RBP3 NM_002900.2(RBP3): c.1553A> G (p.Gln518Arg) single nucleotide variant Uncertain significance rs563600593 GRCh38 Chromosome 10, 47350037: 47350037
39 RBP3 NM_002900.2(RBP3): c.1569C> G (p.His523Gln) single nucleotide variant Uncertain significance rs148093336 GRCh37 Chromosome 10, 48389309: 48389309
40 RBP3 NM_002900.2(RBP3): c.1569C> G (p.His523Gln) single nucleotide variant Uncertain significance rs148093336 GRCh38 Chromosome 10, 47350053: 47350053
41 RBP3 NM_002900.2(RBP3): c.1603C> T (p.Arg535Cys) single nucleotide variant Uncertain significance rs143632019 GRCh37 Chromosome 10, 48389275: 48389275
42 RBP3 NM_002900.2(RBP3): c.1603C> T (p.Arg535Cys) single nucleotide variant Uncertain significance rs143632019 GRCh38 Chromosome 10, 47350087: 47350087
43 RBP3 NM_002900.2(RBP3): c.1778T> C (p.Val593Ala) single nucleotide variant Uncertain significance rs782233167 GRCh37 Chromosome 10, 48389100: 48389100
44 RBP3 NM_002900.2(RBP3): c.1778T> C (p.Val593Ala) single nucleotide variant Uncertain significance rs782233167 GRCh38 Chromosome 10, 47350262: 47350262
45 RBP3 NM_002900.2(RBP3): c.1795A> G (p.Ile599Val) single nucleotide variant Uncertain significance rs144289912 GRCh37 Chromosome 10, 48389083: 48389083
46 RBP3 NM_002900.2(RBP3): c.1795A> G (p.Ile599Val) single nucleotide variant Uncertain significance rs144289912 GRCh38 Chromosome 10, 47350279: 47350279
47 RBP3 NM_002900.2(RBP3): c.1844C> T (p.Ala615Val) single nucleotide variant Uncertain significance rs368920246 GRCh37 Chromosome 10, 48389034: 48389034
48 RBP3 NM_002900.2(RBP3): c.1844C> T (p.Ala615Val) single nucleotide variant Uncertain significance rs368920246 GRCh38 Chromosome 10, 47350328: 47350328
49 RBP3 NM_002900.2(RBP3): c.2024C> T (p.Thr675Ile) single nucleotide variant Uncertain significance rs864622000 GRCh37 Chromosome 10, 48388854: 48388854
50 RBP3 NM_002900.2(RBP3): c.2024C> T (p.Thr675Ile) single nucleotide variant Uncertain significance rs864622000 GRCh38 Chromosome 10, 47350508: 47350508

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 cytoskeleton GO:0005856 9.58 ARL2 ARL2BP ARL3
2 spindle GO:0005819 9.37 ARL2BP ARL3
3 centrosome GO:0005813 9.33 ARL2 ARL2BP ARL3
4 midbody GO:0030496 9.32 ARL2BP ARL3
5 mitochondrial intermembrane space GO:0005758 9.26 ARL2 ARL2BP
6 microtubule organizing center GO:0005815 9.13 ARL2 ARL2BP ARL3
7 cilium GO:0005929 8.8 ARL2 ARL2BP ARL3

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 ARL2 ARL2BP
2 maintenance of protein location in nucleus GO:0051457 8.62 ARL2 ARL2BP

Sources for Retinitis Pigmentosa 66

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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