RP37
MCID: RTN157
MIFTS: 22

Retinitis Pigmentosa 37 (RP37)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 37

MalaCards integrated aliases for Retinitis Pigmentosa 37:

Name: Retinitis Pigmentosa 37 58 12 76 30 13 6 74
Rp37 58 12 76
Retinitis Pigmentosa, Type 37 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
allelic to enhanced s-cone syndrome
onset of symptoms age 5-30


HPO:

33

Classifications:



Summaries for Retinitis Pigmentosa 37

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 37: 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 37, is also known as rp37, and has symptoms including photophobia An important gene associated with Retinitis Pigmentosa 37 is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3). Affiliated tissues include bone and eye, and related phenotypes are cataract and photophobia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the NR2E3 gene on chromosome 15q23.

Description from OMIM: 611131

Related Diseases for Retinitis Pigmentosa 37

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 37

Human phenotypes related to Retinitis Pigmentosa 37:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 photophobia 33 HP:0000613
3 nyctalopia 33 HP:0000662
4 rod-cone dystrophy 33 HP:0000510
5 pigmentary retinopathy 33 HP:0000580
6 cystoid macular degeneration 33 HP:0008028
7 tritanomaly 33 HP:0000552
8 red-green dyschromatopsia 33 HP:0000642
9 undetectable light- and dark-adapted electroretinogram 33 HP:0007688

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
photophobia
cystoid macular degeneration
night blindness
blue/yellow color vision defect
more

Clinical features from OMIM:

611131

UMLS symptoms related to Retinitis Pigmentosa 37:


photophobia

Drugs & Therapeutics for Retinitis Pigmentosa 37

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 37

Genetic Tests for Retinitis Pigmentosa 37

Genetic tests related to Retinitis Pigmentosa 37:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 37 30 NR2E3

Anatomical Context for Retinitis Pigmentosa 37

MalaCards organs/tissues related to Retinitis Pigmentosa 37:

42
Bone, Eye

Publications for Retinitis Pigmentosa 37

Variations for Retinitis Pigmentosa 37

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 37:

76
# Symbol AA change Variation ID SNP ID
1 NR2E3 p.Gly56Arg VAR_037026 rs121912631

ClinVar genetic disease variations for Retinitis Pigmentosa 37:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2E3 NM_014249.3(NR2E3) indel Pathogenic rs730882149 GRCh38 Chromosome 15, 71811507: 71811508
2 NR2E3 NM_014249.3(NR2E3) indel Pathogenic rs730882149 GRCh37 Chromosome 15, 72103847: 72103848
3 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh38 Chromosome 15, 71811481: 71811481
4 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh37 Chromosome 15, 72103821: 72103821
5 NR2E3 NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 GRCh37 Chromosome 15, 72103931: 72103931
6 NR2E3 NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln) single nucleotide variant Uncertain significance rs104894493 GRCh38 Chromosome 15, 71811591: 71811591
7 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs28937873 GRCh37 Chromosome 15, 72105913: 72105913
8 NR2E3 NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln) single nucleotide variant Pathogenic rs28937873 GRCh38 Chromosome 15, 71813573: 71813573
9 NR2E3 NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121912631 GRCh37 Chromosome 15, 72103870: 72103870
10 NR2E3 NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121912631 GRCh38 Chromosome 15, 71811530: 71811530
11 NR2E3 NM_016346.3(NR2E3): c.1034_1038del (p.Leu345Terfs) deletion Pathogenic GRCh38 Chromosome 15, 71814051: 71814055
12 NR2E3 NM_016346.3(NR2E3): c.1034_1038del (p.Leu345Terfs) deletion Pathogenic GRCh37 Chromosome 15, 72106392: 72106396
13 NR2E3 NM_014249.3(NR2E3): c.1095C> T (p.Pro365=) single nucleotide variant Benign rs35004053 GRCh37 Chromosome 15, 72106453: 72106453
14 NR2E3 NM_014249.3(NR2E3): c.1095C> T (p.Pro365=) single nucleotide variant Benign rs35004053 GRCh38 Chromosome 15, 71814112: 71814112
15 NR2E3 NM_014249.3(NR2E3): c.245+8C> T single nucleotide variant Benign/Likely benign rs9920371 GRCh37 Chromosome 15, 72103957: 72103957
16 NR2E3 NM_014249.3(NR2E3): c.245+8C> T single nucleotide variant Benign/Likely benign rs9920371 GRCh38 Chromosome 15, 71811617: 71811617
17 NR2E3 NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys) single nucleotide variant Likely benign rs146403122 GRCh38 Chromosome 15, 71811966: 71811966
18 NR2E3 NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys) single nucleotide variant Likely benign rs146403122 GRCh37 Chromosome 15, 72104306: 72104306
19 NR2E3 NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 GRCh38 Chromosome 15, 71811969: 71811969
20 NR2E3 NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys) single nucleotide variant Uncertain significance rs527236086 GRCh37 Chromosome 15, 72104309: 72104309
21 NR2E3 NM_014249.3(NR2E3): c.694G> A (p.Val232Ile) single nucleotide variant Likely benign rs1805023 GRCh38 Chromosome 15, 71812458: 71812458
22 NR2E3 NM_014249.3(NR2E3): c.694G> A (p.Val232Ile) single nucleotide variant Likely benign rs1805023 GRCh37 Chromosome 15, 72104798: 72104798
23 NR2E3 NM_014249.3(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 GRCh38 Chromosome 15, 71811784: 71811784
24 NR2E3 NM_014249.3(NR2E3): c.264G> T (p.Gly88=) single nucleotide variant Uncertain significance rs558123422 GRCh37 Chromosome 15, 72104124: 72104124
25 NR2E3 NM_014249.3(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 GRCh38 Chromosome 15, 71812176: 71812176
26 NR2E3 NM_014249.3(NR2E3): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs779518180 GRCh37 Chromosome 15, 72104516: 72104516
27 NR2E3 NM_014249.3(NR2E3): c.666G> C (p.Glu222Asp) single nucleotide variant Uncertain significance rs759765652 GRCh38 Chromosome 15, 71812430: 71812430
28 NR2E3 NM_014249.3(NR2E3): c.666G> C (p.Glu222Asp) single nucleotide variant Uncertain significance rs759765652 GRCh37 Chromosome 15, 72104770: 72104770
29 NR2E3 NM_014249.3(NR2E3): c.183C> T (p.Ile61=) single nucleotide variant Likely benign rs771404428 GRCh37 Chromosome 15, 72103887: 72103887
30 NR2E3 NM_014249.3(NR2E3): c.183C> T (p.Ile61=) single nucleotide variant Likely benign rs771404428 GRCh38 Chromosome 15, 71811547: 71811547
31 NR2E3 NM_014249.3(NR2E3): c.454C> T (p.Pro152Ser) single nucleotide variant Uncertain significance rs1261697277 GRCh38 Chromosome 15, 71812059: 71812059
32 NR2E3 NM_014249.3(NR2E3): c.454C> T (p.Pro152Ser) single nucleotide variant Uncertain significance rs1261697277 GRCh37 Chromosome 15, 72104399: 72104399
33 NR2E3 NM_014249.3(NR2E3): c.571+44C> G single nucleotide variant Likely benign rs372602322 GRCh37 Chromosome 15, 72104560: 72104560
34 NR2E3 NM_014249.3(NR2E3): c.571+44C> G single nucleotide variant Likely benign rs372602322 GRCh38 Chromosome 15, 71812220: 71812220
35 NR2E3 NM_014249.3(NR2E3): c.677G> A (p.Arg226His) single nucleotide variant Uncertain significance rs544290323 GRCh37 Chromosome 15, 72104781: 72104781
36 NR2E3 NM_014249.3(NR2E3): c.677G> A (p.Arg226His) single nucleotide variant Uncertain significance rs544290323 GRCh38 Chromosome 15, 71812441: 71812441
37 NR2E3 NM_014249.3(NR2E3): c.1195C> A (p.Pro399Thr) single nucleotide variant Uncertain significance rs199564404 GRCh37 Chromosome 15, 72109987: 72109987
38 NR2E3 NM_014249.3(NR2E3): c.1195C> A (p.Pro399Thr) single nucleotide variant Uncertain significance rs199564404 GRCh38 Chromosome 15, 71817646: 71817646
39 NR2E3 NM_014249.3(NR2E3): c.194_202del (p.Asn65_Cys67del) deletion Likely pathogenic rs1555454566 GRCh37 Chromosome 15, 72103892: 72103901
40 NR2E3 NM_014249.3(NR2E3): c.194_202del (p.Asn65_Cys67del) deletion Likely pathogenic rs1555454566 GRCh38 Chromosome 15, 71811558: 71811566
41 NR2E3 NM_014249.3(NR2E3): c.350-31C> T single nucleotide variant Likely benign rs1322109793 GRCh37 Chromosome 15, 72104264: 72104264
42 NR2E3 NM_014249.3(NR2E3): c.350-31C> T single nucleotide variant Likely benign rs1322109793 GRCh38 Chromosome 15, 71811924: 71811924
43 NR2E3 NM_014249.3(NR2E3): c.524C> G (p.Ala175Gly) single nucleotide variant Uncertain significance rs567617489 GRCh37 Chromosome 15, 72104469: 72104469
44 NR2E3 NM_014249.3(NR2E3): c.524C> G (p.Ala175Gly) single nucleotide variant Uncertain significance rs567617489 GRCh38 Chromosome 15, 71812129: 71812129
45 NR2E3 NM_014249.3(NR2E3): c.747+10G> A single nucleotide variant Likely benign rs780825147 GRCh37 Chromosome 15, 72104861: 72104861
46 NR2E3 NM_014249.3(NR2E3): c.747+10G> A single nucleotide variant Likely benign rs780825147 GRCh38 Chromosome 15, 71812521: 71812521
47 NR2E3 NM_014249.3(NR2E3): c.899C> T (p.Thr300Met) single nucleotide variant Uncertain significance rs374016332 GRCh37 Chromosome 15, 72105880: 72105880
48 NR2E3 NM_014249.3(NR2E3): c.899C> T (p.Thr300Met) single nucleotide variant Uncertain significance rs374016332 GRCh38 Chromosome 15, 71813540: 71813540
49 NR2E3 NM_014249.3(NR2E3): c.998C> T (p.Thr333Met) single nucleotide variant Uncertain significance rs554638593 GRCh37 Chromosome 15, 72106356: 72106356
50 NR2E3 NM_014249.3(NR2E3): c.998C> T (p.Thr333Met) single nucleotide variant Uncertain significance rs554638593 GRCh38 Chromosome 15, 71814015: 71814015

Expression for Retinitis Pigmentosa 37

Search GEO for disease gene expression data for Retinitis Pigmentosa 37.

Pathways for Retinitis Pigmentosa 37

GO Terms for Retinitis Pigmentosa 37

Sources for Retinitis Pigmentosa 37

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