MCID: RTN054
MIFTS: 30

Retinitis Pigmentosa 25

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 25

MalaCards integrated aliases for Retinitis Pigmentosa 25:

Name: Retinitis Pigmentosa 25 53 12 49 71 28 13 14 69
Rp25 53 12 71
Rp 25 49

Characteristics:

OMIM:

53
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:

31
retinitis pigmentosa 25:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 602772
Disease Ontology 12 DOID:0110384
ICD10 32 H35.5
MedGen 39 C1864446
MeSH 41 D012174
UMLS 69 C1864446

Summaries for Retinitis Pigmentosa 25

UniProtKB/Swiss-Prot : 71 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, and has symptoms including nyctalopia, rod-cone dystrophy and attenuation of retinal blood vessels. An important gene associated with Retinitis Pigmentosa 25 is EYS (Eyes Shut Homolog (Drosophila)). Affiliated tissues include bone, eye and retina.

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 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 27.9 ELOVL4 EYS FAM46A IMPG1 RIMS1
2 leber congenital amaurosis 4 10.1
3 retinitis 10.1
4 stargardt macular degeneration 9.8 ELOVL4 RIMS1
5 fundus dystrophy 9.8 EYS RIMS1
6 macular degeneration, age-related, 1 9.4 ELOVL4 IMPG1
7 stargardt disease 8.9 ELOVL4 EYS IMPG1 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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
night blindness
photophobia
retinal bone-spicule pigmentation
attenuated retinal vessels
constriction of visual field
more

Clinical features from OMIM:

602772

Human phenotypes related to Retinitis Pigmentosa 25:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 rod-cone dystrophy 31 HP:0000510
3 attenuation of retinal blood vessels 31 HP:0007843
4 constriction of peripheral visual field 31 HP:0001133
5 bone spicule pigmentation of the retina 31 HP:0007737
6 undetectable electroretinogram 31 HP:0000550

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 28 EYS

Anatomical Context for Retinitis Pigmentosa 25

MalaCards organs/tissues related to Retinitis Pigmentosa 25:

38
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 25

Articles related to Retinitis Pigmentosa 25:

# Title Authors Year
1
Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families. ( 18510647 )
2008
2
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval. ( 18510646 )
2008
3
Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. ( 16354621 )
2005
4
Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus. ( 11474659 )
2001
5
Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. ( 10417302 )
1999

Variations for Retinitis Pigmentosa 25

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

71 (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
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 all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh37 Chromosome 6, 64574212: 64574212
2 EYS NM_001142800.1(EYS): c.8408dupA (p.Asn2803Lysfs) duplication Pathogenic rs398123576 GRCh37 Chromosome 6, 64431519: 64431519
3 EYS NM_001142800.1(EYS): c.2055T> A (p.Cys685Ter) single nucleotide variant Pathogenic rs372354156 GRCh37 Chromosome 6, 65767589: 65767589
4 EYS NM_001142800.1(EYS): c.2194C> T (p.Gln732Ter) single nucleotide variant Pathogenic rs794727120 GRCh37 Chromosome 6, 65707540: 65707540
5 EYS NM_001142800.1(EYS): c.3443+1G> T single nucleotide variant Pathogenic rs373441420 GRCh37 Chromosome 6, 65523270: 65523270
6 EYS NM_001142800.1(EYS): c.4350_4356delTATAGCT (p.Ile1451Profs) deletion Pathogenic rs761238771 GRCh37 Chromosome 6, 65301404: 65301410
7 EYS NM_001142800.1(EYS): c.490C> T (p.Arg164Ter) single nucleotide variant Pathogenic rs794727631 GRCh37 Chromosome 6, 66204814: 66204814
8 EYS NM_001142800.1(EYS): c.2710_2726del17 (p.Asp904Glnfs) deletion Pathogenic rs878853253 GRCh37 Chromosome 6, 65612309: 65612325
9 EYS NM_001142800.1(EYS): c.2260-51191_2992+45990del deletion Pathogenic GRCh38 Chromosome 6, 64840707: 64997105
10 EYS NM_001142800.1(EYS): c.1767-24596_2023+238135del deletion Pathogenic GRCh38 Chromosome 6, 65057728: 65320715
11 EYS NM_001142800.1(EYS): c.5857G> T (p.Glu1953Ter) single nucleotide variant Pathogenic rs137853189 GRCh37 Chromosome 6, 65146137: 65146137
12 EYS NM_001142800.1(EYS): c.9405T> A (p.Tyr3135Ter) single nucleotide variant Pathogenic rs137853190 GRCh37 Chromosome 6, 64430522: 64430522
13 EYS EYS, 1-BP DEL, 6714T deletion Pathogenic
14 EYS NM_001142800.1(EYS): c.6528C> A (p.Tyr2176Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797045089 GRCh37 Chromosome 6, 64791792: 64791792
15 EYS NM_001142800.1(EYS): c.881C> G (p.Ser294Ter) single nucleotide variant Pathogenic rs752683070 GRCh37 Chromosome 6, 66115242: 66115242
16 EYS NM_001142800.1(EYS): c.6794delC (p.Pro2265Glnfs) deletion Pathogenic rs758109813 GRCh37 Chromosome 6, 64709008: 64709008
17 EYS NM_001142800.1(EYS): c.4610_4611delGA (p.Arg1537Thrfs) deletion Pathogenic rs886042613 GRCh37 Chromosome 6, 65301149: 65301150
18 EYS NM_001142800.1(EYS): c.9400delG (p.Val3134Phefs) deletion Likely pathogenic rs886042614 GRCh37 Chromosome 6, 64430527: 64430527
19 EYS NM_001142800.1(EYS): c.9186_9187delCA (p.Asn3062Lysfs) deletion Pathogenic rs886044149 GRCh38 Chromosome 6, 63720844: 63720845
20 EYS NM_001142800.1(EYS): c.4829_4832delCATT (p.Ser1610Phefs) deletion Pathogenic rs886044304 GRCh37 Chromosome 6, 65300928: 65300931
21 EYS NM_001142800.1(EYS): c.9286_9295delGTAAATATCG (p.Val3096Leufs) deletion Pathogenic rs770748359 GRCh37 Chromosome 6, 64430632: 64430641
22 EYS NM_001142800.1(EYS): c.6976C> T (p.Arg2326Ter) single nucleotide variant Likely pathogenic rs1060499783 GRCh37 Chromosome 6, 64694355: 64694355

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

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.8 EYS IMPG1 RIMS1

Sources for Retinitis Pigmentosa 25

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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