MCID: RTN157
MIFTS: 22

Retinitis Pigmentosa 37

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 37

MalaCards integrated aliases for Retinitis Pigmentosa 37:

Name: Retinitis Pigmentosa 37 57 12 75 29 13 6 73
Rp37 57 12 75
Retinitis Pigmentosa, Type 37 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

32

Classifications:



Summaries for Retinitis Pigmentosa 37

UniProtKB/Swiss-Prot : 75 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 rod-cone dystrophy and cataract

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 37

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract
photophobia
cystoid macular degeneration
night blindness
blue/yellow color vision defect
more

Clinical features from OMIM:

611131

Human phenotypes related to Retinitis Pigmentosa 37:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 cataract 32 HP:0000518
3 tritanomaly 32 HP:0000552
4 pigmentary retinopathy 32 HP:0000580
5 photophobia 32 HP:0000613
6 red-green dyschromatopsia 32 HP:0000642
7 nyctalopia 32 HP:0000662
8 undetectable light- and dark-adapted electroretinogram 32 HP:0007688
9 cystoid macular degeneration 32 HP:0008028

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:

41
Bone, Eye

Publications for Retinitis Pigmentosa 37

Variations for Retinitis Pigmentosa 37

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

75
# Symbol AA change Variation ID SNP ID
1 NR2E3 p.Gly56Arg VAR_037026 rs121912631

ClinVar genetic disease variations for Retinitis Pigmentosa 37:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NR2E3 NR2E3, IVS1AS, A-C single nucleotide variant Pathogenic
2 NR2E3 NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121912631 GRCh37 Chromosome 15, 72103870: 72103870
3 NR2E3 NM_014249.3(NR2E3): c.166G> A (p.Gly56Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121912631 GRCh38 Chromosome 15, 71811530: 71811530
4 NR2E3 NR2E3, 5-BP DEL, NT1034 deletion Pathogenic
5 NR2E3 NM_014249.3(NR2E3) indel Pathogenic rs730882149 GRCh38 Chromosome 15, 71811507: 71811508
6 NR2E3 NM_014249.3(NR2E3) indel Pathogenic rs730882149 GRCh37 Chromosome 15, 72103847: 72103848
7 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh38 Chromosome 15, 71811481: 71811481
8 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic rs2723341 GRCh37 Chromosome 15, 72103821: 72103821

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

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
Content
Loading form....