Retinitis Pigmentosa 37 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RP37 MCID: RTN157 MIFTS: 23	Retinitis Pigmentosa 37 (RP37) Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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

retinitis pigmentosa 37:
Inheritance autosomal dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110399

OMIM ⁵⁸ 611131

MeSH ⁴⁵ D012174

ICD10 ³⁴ H35.5

MedGen ⁴³ C1970163

SNOMED-CT via HPO ⁷⁰ 128306009 14046000 193570009 more

UMLS ⁷⁴ C1970163

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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

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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

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Symptoms & Phenotypes for Retinitis Pigmentosa 37

Human phenotypes related to Retinitis Pigmentosa 37:

³³ (show all 9)

#	Description	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	undetectable light- and dark-adapted electroretinogram ³³	HP:0007688
7	cystoid macular degeneration ³³	HP:0008028
8	tritanomaly ³³	HP:0000552
9	red-green dyschromatopsia ³³	HP:0000642

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

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Drugs & Therapeutics for Retinitis Pigmentosa 37

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 37

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Genetic Tests for Retinitis Pigmentosa 37

Genetic tests related to Retinitis Pigmentosa 37:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 37 ³⁰	NR2E3

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Anatomical Context for Retinitis Pigmentosa 37

MalaCards organs/tissues related to Retinitis Pigmentosa 37:

⁴²

Bone, Eye

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Publications for Retinitis Pigmentosa 37

Articles related to Retinitis Pigmentosa 37:

#	Title	Authors	Year
1	Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. ( 22605927 )	Kannabiran C...Mohan G	2012
2	Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. ( 18294254 )	Bernal S...Baiget M	2008
3	Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. ( 17564971 )	Coppieters F...De Baere E	2007
4	Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. ( 10655056 )	Haider NB...Sheffield VC	2000

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Genes for Retinitis Pigmentosa 37

Genes related to Retinitis Pigmentosa 37 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	1329.1	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	18294254 20301590 22605927 (more) 17564971 10655056

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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): c.227G> A (p.Arg76Gln)	single nucleotide variant	Uncertain significance	rs104894493	GRCh37	Chromosome 15, 72103931: 72103931
2	NR2E3	NM_014249.3(NR2E3): c.227G> A (p.Arg76Gln)	single nucleotide variant	Uncertain significance	rs104894493	GRCh38	Chromosome 15, 71811591: 71811591
3	NR2E3	NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln)	single nucleotide variant	Pathogenic	rs28937873	GRCh37	Chromosome 15, 72105913: 72105913
4	NR2E3	NM_014249.3(NR2E3): c.932G> A (p.Arg311Gln)	single nucleotide variant	Pathogenic	rs28937873	GRCh38	Chromosome 15, 71813573: 71813573
5	NR2E3	NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121912631	GRCh37	Chromosome 15, 72103870: 72103870
6	NR2E3	NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121912631	GRCh38	Chromosome 15, 71811530: 71811530
7	NR2E3	NM_016346.3(NR2E3): c.1034_1038del (p.Leu345Terfs)	deletion	Pathogenic		GRCh38	Chromosome 15, 71814051: 71814055
8	NR2E3	NM_016346.3(NR2E3): c.1034_1038del (p.Leu345Terfs)	deletion	Pathogenic		GRCh37	Chromosome 15, 72106392: 72106396
9	NR2E3	NM_014249.3(NR2E3): c.1095C> T (p.Pro365=)	single nucleotide variant	Benign	rs35004053	GRCh37	Chromosome 15, 72106453: 72106453
10	NR2E3	NM_014249.3(NR2E3): c.1095C> T (p.Pro365=)	single nucleotide variant	Benign	rs35004053	GRCh38	Chromosome 15, 71814112: 71814112
11	NR2E3	NM_014249.3(NR2E3): c.245+8C> T	single nucleotide variant	Benign/Likely benign	rs9920371	GRCh37	Chromosome 15, 72103957: 72103957
12	NR2E3	NM_014249.3(NR2E3): c.245+8C> T	single nucleotide variant	Benign/Likely benign	rs9920371	GRCh38	Chromosome 15, 71811617: 71811617
13	NR2E3	NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys)	single nucleotide variant	Likely benign	rs146403122	GRCh38	Chromosome 15, 71811966: 71811966
14	NR2E3	NM_014249.3(NR2E3): c.361G> A (p.Glu121Lys)	single nucleotide variant	Likely benign	rs146403122	GRCh37	Chromosome 15, 72104306: 72104306
15	NR2E3	NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys)	single nucleotide variant	Uncertain significance	rs527236086	GRCh38	Chromosome 15, 71811969: 71811969
16	NR2E3	NM_014249.3(NR2E3): c.364C> T (p.Arg122Cys)	single nucleotide variant	Uncertain significance	rs527236086	GRCh37	Chromosome 15, 72104309: 72104309
17	NR2E3	NM_014249.3(NR2E3)	indel	Pathogenic	rs730882149	GRCh38	Chromosome 15, 71811507: 71811508
18	NR2E3	NM_014249.3(NR2E3)	indel	Pathogenic	rs730882149	GRCh37	Chromosome 15, 72103847: 72103848
19	NR2E3	NM_016346.3(NR2E3): c.119-2A> C	single nucleotide variant	Pathogenic	rs2723341	GRCh38	Chromosome 15, 71811481: 71811481
20	NR2E3	NM_016346.3(NR2E3): c.119-2A> C	single nucleotide variant	Pathogenic	rs2723341	GRCh37	Chromosome 15, 72103821: 72103821
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

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Expression for Retinitis Pigmentosa 37

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

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Pathways for Retinitis Pigmentosa 37

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GO Terms for Retinitis Pigmentosa 37

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Sources for Retinitis Pigmentosa 37

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Retinitis Pigmentosa 37 (RP37)

Aliases & Classifications for Retinitis Pigmentosa 37

MalaCards integrated aliases for Retinitis Pigmentosa 37:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 37

Related Diseases for Retinitis Pigmentosa 37

Diseases in the Retinitis Pigmentosa family:

Symptoms & Phenotypes for Retinitis Pigmentosa 37

Human phenotypes related to Retinitis Pigmentosa 37:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Retinitis Pigmentosa 37:

Drugs & Therapeutics for Retinitis Pigmentosa 37

Genetic Tests for Retinitis Pigmentosa 37

Genetic tests related to Retinitis Pigmentosa 37:

Anatomical Context for Retinitis Pigmentosa 37

MalaCards organs/tissues related to Retinitis Pigmentosa 37:

Publications for Retinitis Pigmentosa 37

Articles related to Retinitis Pigmentosa 37:

Genes for Retinitis Pigmentosa 37

Genes related to Retinitis Pigmentosa 37 (1 elite genes):

Variations for Retinitis Pigmentosa 37

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

ClinVar genetic disease variations for Retinitis Pigmentosa 37:

Expression for Retinitis Pigmentosa 37

Pathways for Retinitis Pigmentosa 37

GO Terms for Retinitis Pigmentosa 37

Sources for Retinitis Pigmentosa 37