RP25
MCID: RTN054
MIFTS: 35

Retinitis Pigmentosa 25 (RP25)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 25

MalaCards integrated aliases for Retinitis Pigmentosa 25:

Name: Retinitis Pigmentosa 25 58 12 54 76 30 13 6 15 74
Rp25 58 12 76
Retinitis Pigmentosa, Type 25 41
Rp 25 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range 12-46 years)
one patient in an rp family was identified with a cone-rod phenotype on erg


HPO:

33
retinitis pigmentosa 25:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110384
OMIM 58 602772
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1864446
UMLS 74 C1864446

Summaries for Retinitis Pigmentosa 25

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 25: 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 25, also known as rp25, is related to retinitis pigmentosa and leber congenital amaurosis 4. An important gene associated with Retinitis Pigmentosa 25 is EYS (Eyes Shut Homolog), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include bone, eye and retina, and related phenotypes are chorioretinal atrophy and posterior subcapsular cataract

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the EYS gene on chromosome 6q12.

Description from OMIM: 602772

Related Diseases for Retinitis Pigmentosa 25

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

Diseases related to Retinitis Pigmentosa 25 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.4 ELOVL4 EYS IMPG1 PDE6A PDE6G RIMS1
2 leber congenital amaurosis 4 10.3
3 retinitis 10.3
4 stargardt macular degeneration 9.9 ELOVL4 RIMS1
5 cone-rod dystrophy 7 9.8 ELOVL4 RIMS1
6 stargardt disease 9.7 ELOVL4 EYS IMPG1
7 fundus dystrophy 9.7 EYS IMPG1 RIMS1
8 macular degeneration, age-related, 1 9.7 ELOVL4 IMPG1
9 retinal disease 9.4 ELOVL4 IMPG1 PDE6A
10 leber congenital amaurosis 9.3 ELOVL4 PDE6A RIMS1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 25:



Diseases related to Retinitis Pigmentosa 25

Symptoms & Phenotypes for Retinitis Pigmentosa 25

Human phenotypes related to Retinitis Pigmentosa 25:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 chorioretinal atrophy 33 very rare (1%) HP:0000533
2 posterior subcapsular cataract 33 very rare (1%) HP:0007787
3 photophobia 33 HP:0000613
4 nyctalopia 33 HP:0000662
5 rod-cone dystrophy 33 HP:0000510
6 optic disc pallor 33 HP:0000543
7 constriction of peripheral visual field 33 HP:0001133
8 attenuation of retinal blood vessels 33 HP:0007843
9 bone spicule pigmentation of the retina 33 HP:0007737
10 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
photophobia
optic disc pallor
night blindness
attenuated retinal vessels
retinal bone-spicule pigmentation
more

Clinical features from OMIM:

602772

Drugs & Therapeutics for Retinitis Pigmentosa 25

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 25

Genetic Tests for Retinitis Pigmentosa 25

Genetic tests related to Retinitis Pigmentosa 25:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 25 30 EYS

Anatomical Context for Retinitis Pigmentosa 25

MalaCards organs/tissues related to Retinitis Pigmentosa 25:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 25

Articles related to Retinitis Pigmentosa 25:

# Title Authors Year
1
Large-scale Molecular Analysis of a 34 Mb Interval on Chromosome 6q: Major Refinement of the RP25 Interval. ( 28321837 )
2015
2
Identification of two highly informative STRs (GT15-25) and (GT9-21 )within the critical region of RP25. ( 11139260 )
2001

Variations for Retinitis Pigmentosa 25

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 25:

76 (show all 17)
# Symbol AA change Variation ID SNP ID
1 EYS p.Gly618Ser VAR_063445 rs142450703
2 EYS p.Asn745Ser VAR_063448 rs201652272
3 EYS p.Thr1110Ser VAR_063451 rs143327210
4 EYS p.Cys1176Arg VAR_063453
5 EYS p.Ile1232Phe VAR_063454 rs190009374
6 EYS p.Asp1682Tyr VAR_063465 rs75831552
7 EYS p.Glu1747Gly VAR_063467 rs535663619
8 EYS p.Leu1869Met VAR_063470
9 EYS p.Cys2139Tyr VAR_063478 rs749909863
10 EYS p.Leu2189Pro VAR_063480
11 EYS p.Ala2829Thr VAR_063486 rs111991705
12 EYS p.Cys2911Tyr VAR_063488
13 EYS p.Gly2928Glu VAR_063489
14 EYS p.Trp1484Arg VAR_064417 rs126040059
15 EYS p.Gly2017Val VAR_064418 rs868349465
16 EYS p.Glu2503Lys VAR_064419 rs768964978
17 EYS p.Gln2945Glu VAR_064420

ClinVar genetic disease variations for Retinitis Pigmentosa 25:

6 (show top 50) (show all 188)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYS NM_001142800.1(EYS): c.4985A> T (p.Asp1662Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147641443 GRCh37 Chromosome 6, 65300775: 65300775
2 EYS NM_001142800.1(EYS): c.4985A> T (p.Asp1662Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147641443 GRCh38 Chromosome 6, 64590882: 64590882
3 EYS NM_001142800.1(EYS): c.2234A> G (p.Asn745Ser) single nucleotide variant Uncertain significance rs201652272 GRCh37 Chromosome 6, 65707500: 65707500
4 EYS NM_001142800.1(EYS): c.2234A> G (p.Asn745Ser) single nucleotide variant Uncertain significance rs201652272 GRCh38 Chromosome 6, 64997607: 64997607
5 EYS NM_001142800.1(EYS): c.2813A> G (p.Lys938Arg) single nucleotide variant Uncertain significance rs367857088 GRCh37 Chromosome 6, 65612039: 65612039
6 EYS NM_001142800.1(EYS): c.2813A> G (p.Lys938Arg) single nucleotide variant Uncertain significance rs367857088 GRCh38 Chromosome 6, 64902146: 64902146
7 EYS NM_001142800.1(EYS): c.2971C> T (p.Leu991Phe) single nucleotide variant Uncertain significance rs201819948 GRCh37 Chromosome 6, 65596611: 65596611
8 EYS NM_001142800.1(EYS): c.2971C> T (p.Leu991Phe) single nucleotide variant Uncertain significance rs201819948 GRCh38 Chromosome 6, 64886718: 64886718
9 EYS NM_001142800.1(EYS): c.3443+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs373441420 GRCh37 Chromosome 6, 65523270: 65523270
10 EYS NM_001142800.1(EYS): c.3443+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs373441420 GRCh38 Chromosome 6, 64813377: 64813377
11 EYS NM_001142800.1(EYS): c.3250A> C (p.Thr1084Pro) single nucleotide variant Uncertain significance rs778646190 GRCh37 Chromosome 6, 65523464: 65523464
12 EYS NM_001142800.1(EYS): c.3250A> C (p.Thr1084Pro) single nucleotide variant Uncertain significance rs778646190 GRCh38 Chromosome 6, 64813571: 64813571
13 EYS NM_001142800.1(EYS): c.4350_4356delTATAGCT (p.Ile1451Profs) deletion Pathogenic rs761238771 GRCh37 Chromosome 6, 65301404: 65301410
14 EYS NM_001142800.1(EYS): c.4350_4356delTATAGCT (p.Ile1451Profs) deletion Pathogenic rs761238771 GRCh38 Chromosome 6, 64591511: 64591517
15 EYS NM_001142800.1(EYS): c.5510G> C (p.Trp1837Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199689193 GRCh37 Chromosome 6, 65300250: 65300250
16 EYS NM_001142800.1(EYS): c.5510G> C (p.Trp1837Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs199689193 GRCh38 Chromosome 6, 64590357: 64590357
17 EYS NM_001142800.1(EYS): c.4402G> C (p.Asp1468His) single nucleotide variant Uncertain significance rs778752557 GRCh37 Chromosome 6, 65301358: 65301358
18 EYS NM_001142800.1(EYS): c.4402G> C (p.Asp1468His) single nucleotide variant Uncertain significance rs778752557 GRCh38 Chromosome 6, 64591465: 64591465
19 EYS NM_001142800.1(EYS): c.6079-4_6079-3delTC deletion Benign rs35395170 GRCh37 Chromosome 6, 65016978: 65016979
20 EYS NM_001142800.1(EYS): c.6079-4_6079-3delTC deletion Benign rs35395170 GRCh38 Chromosome 6, 64307085: 64307086
21 EYS NM_001142800.1(EYS): c.6528C> A (p.Tyr2176Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797045089 GRCh37 Chromosome 6, 64791792: 64791792
22 EYS NM_001142800.1(EYS): c.6528C> A (p.Tyr2176Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797045089 GRCh38 Chromosome 6, 64081899: 64081899
23 EYS NM_001142800.1(EYS): c.881C> G (p.Ser294Ter) single nucleotide variant Pathogenic rs752683070 GRCh37 Chromosome 6, 66115242: 66115242
24 EYS NM_001142800.1(EYS): c.881C> G (p.Ser294Ter) single nucleotide variant Pathogenic rs752683070 GRCh38 Chromosome 6, 65405349: 65405349
25 EYS NM_001142800.1(EYS): c.2260-51191_2992+45990del deletion Pathogenic GRCh37 Chromosome 6, 65550600: 65706998
26 EYS NM_001142800.1(EYS): c.2710_2726del17 (p.Asp904Glnfs) deletion Pathogenic rs878853253 GRCh37 Chromosome 6, 65612309: 65612325
27 EYS NM_001142800.1(EYS): c.2710_2726del17 (p.Asp904Glnfs) deletion Pathogenic rs878853253 GRCh38 Chromosome 6, 64902416: 64902432
28 EYS NM_001142800.1(EYS): c.2260-51191_2992+45990del deletion Pathogenic GRCh38 Chromosome 6, 64840707: 64997105
29 EYS NM_001142800.1(EYS): c.1767-24596_2023+238135del deletion Pathogenic GRCh38 Chromosome 6, 65057728: 65320715
30 EYS NM_001142800.1(EYS): c.1767-24596_2023+238135del deletion Pathogenic GRCh37 Chromosome 6, 65767621: 66030608
31 EYS NM_001142800.1(EYS): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs137853189 GRCh37 Chromosome 6, 65146137: 65146137
32 EYS NM_001142800.1(EYS): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs137853189 GRCh38 Chromosome 6, 64436244: 64436244
33 EYS NM_001142800.1(EYS): c.9405T> A (p.Tyr3135Ter) single nucleotide variant Likely pathogenic rs137853190 GRCh37 Chromosome 6, 64430522: 64430522
34 EYS NM_001142800.1(EYS): c.9405T> A (p.Tyr3135Ter) single nucleotide variant Likely pathogenic rs137853190 GRCh38 Chromosome 6, 63720626: 63720626
35 EYS EYS, 1-BP DEL, 6714T deletion Pathogenic
36 EYS NM_001142800.1(EYS): c.8408dupA (p.Asn2803Lysfs) duplication Pathogenic rs398123576 GRCh38 Chromosome 6, 63721623: 63721623
37 EYS NM_001142800.1(EYS): c.2555T> C (p.Leu852Pro) single nucleotide variant Benign rs9294631 GRCh37 Chromosome 6, 65622463: 65622463
38 EYS NM_001142800.1(EYS): c.2555T> C (p.Leu852Pro) single nucleotide variant Benign rs9294631 GRCh38 Chromosome 6, 64912570: 64912570
39 EYS NM_001142800.1(EYS): c.4256T> C (p.Leu1419Ser) single nucleotide variant Benign rs624851 GRCh37 Chromosome 6, 65301504: 65301504
40 EYS NM_001142800.1(EYS): c.4256T> C (p.Leu1419Ser) single nucleotide variant Benign rs624851 GRCh38 Chromosome 6, 64591611: 64591611
41 EYS NM_001142800.1(EYS): c.5601T> C (p.Ser1867=) single nucleotide variant Conflicting interpretations of pathogenicity rs182322608 GRCh37 Chromosome 6, 65300159: 65300159
42 EYS NM_001142800.1(EYS): c.5601T> C (p.Ser1867=) single nucleotide variant Conflicting interpretations of pathogenicity rs182322608 GRCh38 Chromosome 6, 64590266: 64590266
43 EYS NM_001142800.1(EYS): c.6977G> A (p.Arg2326Gln) single nucleotide variant Benign/Likely benign rs4710457 GRCh37 Chromosome 6, 64694354: 64694354
44 EYS NM_001142800.1(EYS): c.6977G> A (p.Arg2326Gln) single nucleotide variant Benign/Likely benign rs4710457 GRCh38 Chromosome 6, 63984461: 63984461
45 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh37 Chromosome 6, 64574212: 64574212
46 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh38 Chromosome 6, 63864319: 63864319
47 EYS NM_001142800.1(EYS): c.8408dupA (p.Asn2803Lysfs) duplication Pathogenic rs398123576 GRCh37 Chromosome 6, 64431519: 64431519
48 EYS NM_001142800.1(EYS): c.6726-24613G> T single nucleotide variant Likely benign rs151229098 GRCh37 Chromosome 6, 64733689: 64733689
49 EYS NM_001142800.1(EYS): c.6726-24613G> T single nucleotide variant Likely benign rs151229098 GRCh38 Chromosome 6, 64023796: 64023796
50 EYS NM_001142800.1(EYS): c.334G> A (p.Val112Ile) single nucleotide variant Benign/Likely benign rs112609906 GRCh38 Chromosome 6, 65495077: 65495077

Expression for Retinitis Pigmentosa 25

Search GEO for disease gene expression data for Retinitis Pigmentosa 25.

Pathways for Retinitis Pigmentosa 25

GO Terms for Retinitis Pigmentosa 25

Cellular components related to Retinitis Pigmentosa 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.62 PDE6A PDE6G

Biological processes related to Retinitis Pigmentosa 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.26 EYS PDE6A PDE6G RIMS1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 PDE6A PDE6G
3 visual perception GO:0007601 9.02 EYS IMPG1 PDE6A PDE6G RIMS1

Molecular functions related to Retinitis Pigmentosa 25 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 8.62 PDE6A PDE6G

Sources for Retinitis Pigmentosa 25

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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