RP37
MCID: RTN157
MIFTS: 35

Retinitis Pigmentosa 37 (RP37)

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

Aliases & Classifications for Retinitis Pigmentosa 37

MalaCards integrated aliases for Retinitis Pigmentosa 37:

Name: Retinitis Pigmentosa 37 57 12 72 29 13 6 15 70
Rp37 57 12 72
Retinitis Pigmentosa, Type 37 39

Characteristics:

OMIM®:

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

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


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0110399
OMIM® 57 611131
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1970163
UMLS 70 C1970163

Summaries for Retinitis Pigmentosa 37

UniProtKB/Swiss-Prot : 72 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, also known as rp37, is related to enhanced s-cone syndrome and eye degenerative disease, and has symptoms including photophobia An important gene associated with Retinitis Pigmentosa 37 is NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3), and among its related pathways/superpathways is Nuclear Receptor transcription pathway. Affiliated tissues include eye, retina and bone, 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.

More information from OMIM: 611131 PS268000

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

Diseases related to Retinitis Pigmentosa 37 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 enhanced s-cone syndrome 9.9 NR2E3 NR2E1
2 eye degenerative disease 9.8 RP9 NR2E3
3 hermansky-pudlak syndrome 1 9.7 SEC31B CFAP46

Symptoms & Phenotypes for Retinitis Pigmentosa 37

Human phenotypes related to Retinitis Pigmentosa 37:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 photophobia 31 HP:0000613
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 pigmentary retinopathy 31 HP:0000580
6 cystoid macular degeneration 31 HP:0008028
7 tritanomaly 31 HP:0000552
8 red-green dyschromatopsia 31 HP:0000642
9 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
cataract
photophobia
cystoid macular degeneration
night blindness
blue/yellow color vision defect
more

Clinical features from OMIM®:

611131 (Updated 05-Apr-2021)

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 29 NR2E3

Anatomical Context for Retinitis Pigmentosa 37

MalaCards organs/tissues related to Retinitis Pigmentosa 37:

40
Eye, Retina, Bone

Publications for Retinitis Pigmentosa 37

Articles related to Retinitis Pigmentosa 37:

(show all 21)
# Title Authors PMID Year
1
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 6 57
22605927 2012
2
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. 6 57
18294254 2008
3
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. 57 6
17564971 2007
4
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. 6 57
10655056 2000
5
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 6
27032803 2016
6
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 6
25097241 2014
7
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 6
23591405 2014
8
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation. 6
24069298 2013
9
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome. 6
21364904 2011
10
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3. 6
19898638 2009
11
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 6
19006237 2009
12
The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. 6
19273793 2009
13
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome. 6
17438525 2007
14
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes. 6
15689355 2005
15
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. 6
15459973 2004
16
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. 6
12963616 2003
17
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. 6
11773633 2002
18
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. 6
11071390 2000
19
Colonization of Germ-Free Piglets with Mucinolytic and Non-Mucinolytic Bifidobacterium boum Strains Isolated from the Intestine of Wild Boar and Their Interference with Salmonella Typhimurium. 61
33333934 2020
20
The C-terminal end of the capsid protein of Avian Nephritis Virus is antigenic and induces broadly cross-reactive antibodies. 61
25934419 2015
21
The relationship of macular pigment optical density to serum lutein in retinitis pigmentosa. 61
19797209 2010

Variations for Retinitis Pigmentosa 37

ClinVar genetic disease variations for Retinitis Pigmentosa 37:

6 (show all 50)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR2E3 NM_014249.4(NR2E3):c.1034_1038del (p.Ala344_Leu345insTer) Deletion Pathogenic 5534 rs1567160967 GRCh37: 15:72106392-72106396
GRCh38: 15:71814051-71814055
2 NR2E3 NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs) Indel Pathogenic 183143 rs730882149 GRCh37: 15:72103847-72103848
GRCh38: 15:71811507-71811508
3 NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic 191059 rs2723341 GRCh37: 15:72103821-72103821
GRCh38: 15:71811481-71811481
4 NR2E3 NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) SNV Pathogenic 5532 rs28937873 GRCh37: 15:72105913-72105913
GRCh38: 15:71813573-71813573
5 NR2E3 NM_014249.4(NR2E3):c.119-2A>C SNV Pathogenic 191059 rs2723341 GRCh37: 15:72103821-72103821
GRCh38: 15:71811481-71811481
6 NR2E3 NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) SNV Likely pathogenic 191062 rs761628767 GRCh37: 15:72105907-72105907
GRCh38: 15:71813567-71813567
7 NR2E3 NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) Deletion Likely pathogenic 551852 rs1555454566 GRCh37: 15:72103893-72103901
GRCh38: 15:71811553-71811561
8 NR2E3 NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) SNV Likely pathogenic 5533 rs121912631 GRCh37: 15:72103870-72103870
GRCh38: 15:71811530-71811530
9 NR2E3 NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu) SNV Uncertain significance 426441 rs202098481 GRCh37: 15:72103835-72103835
GRCh38: 15:71811495-71811495
10 NR2E3 NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) SNV Uncertain significance 5530 rs104894493 GRCh37: 15:72103931-72103931
GRCh38: 15:71811591-71811591
11 NR2E3 NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg) SNV Uncertain significance 558411 rs563014885 GRCh37: 15:72103874-72103874
GRCh38: 15:71811534-71811534
12 NR2E3 NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln) SNV Uncertain significance 286837 rs186714117 GRCh37: 15:72103934-72103934
GRCh38: 15:71811594-71811594
13 NR2E3 NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser) SNV Uncertain significance 552825 rs1261697277 GRCh37: 15:72104399-72104399
GRCh38: 15:71812059-71812059
14 NR2E3 NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser) SNV Uncertain significance 887281 GRCh37: 15:72105840-72105840
GRCh38: 15:71813500-71813500
15 NR2E3 NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp) SNV Uncertain significance 884317 GRCh37: 15:72105906-72105906
GRCh38: 15:71813566-71813566
16 NR2E3 NM_014249.4(NR2E3):c.677G>A (p.Arg226His) SNV Uncertain significance 554361 rs544290323 GRCh37: 15:72104781-72104781
GRCh38: 15:71812441-71812441
17 NR2E3 NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) SNV Uncertain significance 143147 rs527236086 GRCh37: 15:72104309-72104309
GRCh38: 15:71811969-71811969
18 NR2E3 NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly) SNV Uncertain significance 554716 rs567617489 GRCh37: 15:72104469-72104469
GRCh38: 15:71812129-71812129
19 NR2E3 NM_014249.4(NR2E3):c.119-6C>T SNV Uncertain significance 556393 rs745910334 GRCh37: 15:72103817-72103817
GRCh38: 15:71811477-71811477
20 NR2E3 NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp) SNV Uncertain significance 317018 rs759765652 GRCh37: 15:72104770-72104770
GRCh38: 15:71812430-71812430
21 NR2E3 NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr) SNV Uncertain significance 317016 rs779518180 GRCh37: 15:72104516-72104516
GRCh38: 15:71812176-71812176
22 NR2E3 NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr) SNV Uncertain significance 552868 rs199564404 GRCh37: 15:72109987-72109987
GRCh38: 15:71817646-71817646
23 NR2E3 NM_014249.4(NR2E3):c.349+7C>T SNV Uncertain significance 787123 rs900547 GRCh37: 15:72104216-72104216
GRCh38: 15:71811876-71811876
24 NR2E3 NM_014249.4(NR2E3):c.-10C>T SNV Uncertain significance 550918 rs771015928 GRCh37: 15:72103074-72103074
GRCh38: 15:71810734-71810734
25 NR2E3 NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg) SNV Uncertain significance 551741 rs777512062 GRCh37: 15:72106420-72106420
GRCh38: 15:71814079-71814079
26 NR2E3 NM_014249.4(NR2E3):c.998C>T (p.Thr333Met) SNV Uncertain significance 551766 rs554638593 GRCh37: 15:72106356-72106356
GRCh38: 15:71814015-71814015
27 NR2E3 NM_014249.4(NR2E3):c.264G>T (p.Gly88=) SNV Uncertain significance 317007 rs558123422 GRCh37: 15:72104124-72104124
GRCh38: 15:71811784-71811784
28 NR2E3 NM_014249.4(NR2E3):c.899C>T (p.Thr300Met) SNV Uncertain significance 558336 rs374016332 GRCh37: 15:72105880-72105880
GRCh38: 15:71813540-71813540
29 NR2E3 NM_014249.4(NR2E3):c.1101-10T>C SNV Uncertain significance 558406 rs763647845 GRCh37: 15:72109883-72109883
GRCh38: 15:71817542-71817542
30 NR2E3 NM_014249.4(NR2E3):c.767C>T (p.Ala256Val) SNV Uncertain significance 844032 GRCh37: 15:72105748-72105748
GRCh38: 15:71813408-71813408
31 NR2E3 NM_014249.4(NR2E3):c.843C>T (p.Pro281=) SNV Uncertain significance 740115 rs555211505 GRCh37: 15:72105824-72105824
GRCh38: 15:71813484-71813484
32 NR2E3 NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) SNV Likely benign 143146 rs146403122 GRCh37: 15:72104306-72104306
GRCh38: 15:71811966-71811966
33 NR2E3 NM_014249.4(NR2E3):c.*567C>A SNV Likely benign 887402 GRCh37: 15:72110592-72110592
GRCh38: 15:71818251-71818251
34 NR2E3 NM_014249.4(NR2E3):c.858C>T (p.Ala286=) SNV Likely benign 553094 rs566024312 GRCh37: 15:72105839-72105839
GRCh38: 15:71813499-71813499
35 NR2E3 NM_014249.4(NR2E3):c.450G>A (p.Pro150=) SNV Likely benign 552858 rs746581775 GRCh37: 15:72104395-72104395
GRCh38: 15:71812055-71812055
36 NR2E3 NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) SNV Likely benign 260368 rs1805023 GRCh37: 15:72104798-72104798
GRCh38: 15:71812458-71812458
37 NR2E3 NM_014249.4(NR2E3):c.571+65C>T SNV Likely benign 552563 rs538878781 GRCh37: 15:72104581-72104581
GRCh38: 15:71812241-71812241
38 NR2E3 NM_014249.4(NR2E3):c.45A>G (p.Ala15=) SNV Likely benign 552215 rs752130237 GRCh37: 15:72103128-72103128
GRCh38: 15:71810788-71810788
39 NR2E3 NM_014249.4(NR2E3):c.571+44C>G SNV Likely benign 556622 rs372602322 GRCh37: 15:72104560-72104560
GRCh38: 15:71812220-71812220
40 NR2E3 NM_014249.4(NR2E3):c.350-31C>T SNV Likely benign 556954 rs1322109793 GRCh37: 15:72104264-72104264
GRCh38: 15:71811924-71811924
41 NR2E3 NM_014249.4(NR2E3):c.245+8C>T SNV Likely benign 95580 rs9920371 GRCh37: 15:72103957-72103957
GRCh38: 15:71811617-71811617
42 NR2E3 NM_014249.4(NR2E3):c.350-26C>T SNV Likely benign 557395 rs1048078452 GRCh37: 15:72104269-72104269
GRCh38: 15:71811929-71811929
43 NR2E3 NM_014249.4(NR2E3):c.571+51C>T SNV Likely benign 557451 rs200759758 GRCh37: 15:72104567-72104567
GRCh38: 15:71812227-71812227
44 NR2E3 NM_014249.4(NR2E3):c.183C>T (p.Ile61=) SNV Likely benign 557608 rs771404428 GRCh37: 15:72103887-72103887
GRCh38: 15:71811547-71811547
45 NR2E3 NM_014249.4(NR2E3):c.747+10G>A SNV Likely benign 555217 rs780825147 GRCh37: 15:72104861-72104861
GRCh38: 15:71812521-71812521
46 NR2E3 NM_014249.4(NR2E3):c.1095C>T (p.Pro365=) SNV Benign 95579 rs35004053 GRCh37: 15:72106453-72106453
GRCh38: 15:71814112-71814112
47 NR2E3 NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) SNV Benign 497063 rs1805025 GRCh37: 15:72105885-72105885
GRCh38: 15:71813545-71813545
48 NR2E3 NM_014249.4(NR2E3):c.333G>A (p.Ala111=) SNV Benign 787122 rs900546 GRCh37: 15:72104193-72104193
GRCh38: 15:71811853-71811853
49 NR2E3 NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) SNV Benign 260368 rs1805023 GRCh37: 15:72104798-72104798
GRCh38: 15:71812458-71812458
50 NR2E3 NM_014249.4(NR2E3):c.245+8C>T SNV Benign 95580 rs9920371 GRCh37: 15:72103957-72103957
GRCh38: 15:71811617-71811617

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

72
# Symbol AA change Variation ID SNP ID
1 NR2E3 p.Gly56Arg VAR_037026 rs121912631

Expression for Retinitis Pigmentosa 37

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

Pathways for Retinitis Pigmentosa 37

Pathways related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.58 NR2E3 NR2E1

GO Terms for Retinitis Pigmentosa 37

Biological processes related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.26 NR2E3 NR2E1
2 anatomical structure development GO:0048856 9.16 NR2E3 NR2E1
3 intracellular receptor signaling pathway GO:0030522 8.96 NR2E3 NR2E1
4 steroid hormone mediated signaling pathway GO:0043401 8.62 NR2E3 NR2E1

Molecular functions related to Retinitis Pigmentosa 37 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity GO:0004879 8.96 NR2E3 NR2E1
2 steroid hormone receptor activity GO:0003707 8.62 NR2E3 NR2E1

Sources for Retinitis Pigmentosa 37

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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