RP4
MCID: RTN066
MIFTS: 42

Retinitis Pigmentosa 4 (RP4)

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

Aliases & Classifications for Retinitis Pigmentosa 4

MalaCards integrated aliases for Retinitis Pigmentosa 4:

Name: Retinitis Pigmentosa 4 57 12 20 72 29 6 44 15 70
Rp4 57 12 72
Retinitis Pigmentosa 4, Autosomal Dominant or Recessive 57 13
Retinitis Pigmentosa, Rhodopsin-Related 57
Retinitis Pigmentosa, Type 4 39
Rp 4 20

Characteristics:

OMIM®:

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

Miscellaneous:
mild asymmetric regional disease (e.g. )
onset in first decade (e.g. )


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0110372
OMIM® 57 613731
OMIM Phenotypic Series 57 PS268000
ICD10 32 H35.5
MedGen 41 C3151001
UMLS 70 C3151001

Summaries for Retinitis Pigmentosa 4

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 4: 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 4, also known as rp4, is related to retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 4 is RHO (Rhodopsin), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. Affiliated tissues include eye and retina, and related phenotypes are cataract and blindness

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RHO gene on chromosome 3q22.

More information from OMIM: 613731 PS268000

Related Diseases for Retinitis Pigmentosa 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 retinitis 29.7 SNRNP200 RPGR RP9 RP2 RHO
2 retinitis pigmentosa 28.5 SRSF1 SNRNP200 RPGR RP9 RP2 RHO
3 pattern dystrophy 10.3 RP2 RHO
4 retinitis pigmentosa 33 10.2 SNRNP200 RP9
5 red-green color blindness 10.2 RPGR RHO
6 color blindness 10.2 RPGR RHO
7 cone-rod dystrophy, x-linked, 2 10.2 SERPINA3 RPGR
8 optic disk drusen 10.1 RPGR RHO
9 cone-rod dystrophy, x-linked, 3 10.1 SERPINA3 RPGR
10 macular dystrophy, dominant cystoid 10.1 RPGR RHO
11 neuroretinitis 10.1
12 retinitis pigmentosa 31 10.1 RPGR RP9
13 retinitis pigmentosa 19 10.1 RPGR RP9
14 retinitis pigmentosa 14 10.1 RPGR RP9
15 cone-rod dystrophy, x-linked, 1 10.1 SERPINA3 RPGR
16 retinitis pigmentosa 20 10.1 RPGR RP9
17 retinitis pigmentosa 2 10.1 RPGR RP2
18 retinitis pigmentosa 17 10.1 RPGR RP9
19 retinitis pigmentosa 6 10.0 RPGR RP9
20 gyrate atrophy of choroid and retina 10.0 RPGR RP9 RHO
21 helix syndrome 10.0
22 choroid disease 10.0 RPGR RHO
23 retinitis pigmentosa 10 10.0 RPGR RP9
24 autosomal dominant congenital stationary night blindness 10.0 RHO GNAT1
25 retinitis pigmentosa 3 10.0 RPGR RP9 RP2
26 scotoma 10.0 RPGR RHO
27 night blindness, congenital stationary, autosomal dominant 1 10.0 RHO GNAT1
28 retinitis pigmentosa-deafness syndrome 10.0
29 usher syndrome 10.0
30 usher syndrome type 2 10.0
31 leber congenital amaurosis 2 10.0 RPGR RHO
32 retinitis pigmentosa 13 9.9 SNRNP200 RPGR RP9
33 retinitis pigmentosa 7 9.9 SNRNP200 RPGR RP9
34 sensory system disease 9.9 SERPINA3 RPGR RHO
35 oguchi disease 9.9 RHO GNAT1
36 stargardt disease 9.9 SNRNP200 RPGR RHO
37 colorectal cancer 9.9
38 hair whorl 9.9
39 leukemia, acute myeloid 9.9
40 microphthalmia, syndromic 10 9.9
41 leukemia 9.9
42 myeloid leukemia 9.9
43 gas gangrene 9.9
44 hypoxia 9.9
45 enhanced s-cone syndrome 9.7 RPGR RHO GNAT1
46 congenital stationary night blindness 9.7 RPGR RHO GNAT1
47 fundus albipunctatus 9.7 RPGR RHO GNAT1
48 eye disease 9.7 SERPINA3 RPGR RP2 RHO IGFBP2
49 eye degenerative disease 9.7 SNRNP200 SERPINA3 RPGR RP9 RHO
50 retinal disease 9.6 RPGR RP9 RHO GNAT1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 4:



Diseases related to Retinitis Pigmentosa 4

Symptoms & Phenotypes for Retinitis Pigmentosa 4

Human phenotypes related to Retinitis Pigmentosa 4:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 blindness 31 HP:0000618
3 abnormal electroretinogram 31 HP:0000512
4 nyctalopia 31 HP:0000662
5 rod-cone dystrophy 31 HP:0000510
6 pigmentary retinopathy 31 HP:0000580
7 visual field defect 31 HP:0001123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
pigmentary retinopathy
retinitis pigmentosa
abnormal electroretinograms in heterozygotes
inferior and inferonasal retinal pigmentation (e.g. )
superior hemisphere field impairment (e.g. )
more

Clinical features from OMIM®:

613731 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.02 GNAT1 IGFBP2 NT5M RPGR UBN1

Drugs & Therapeutics for Retinitis Pigmentosa 4

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 4

Cochrane evidence based reviews: retinitis pigmentosa 4

Genetic Tests for Retinitis Pigmentosa 4

Genetic tests related to Retinitis Pigmentosa 4:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 4 29 RHO

Anatomical Context for Retinitis Pigmentosa 4

MalaCards organs/tissues related to Retinitis Pigmentosa 4:

40
Eye, Retina

Publications for Retinitis Pigmentosa 4

Articles related to Retinitis Pigmentosa 4:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa. 6 57
20555336 2010
2
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation. 6 57
10980774 2000
3
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. 57 6
9197578 1997
4
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. 6 57
8841304 1996
5
Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q. 6 57
8328469 1993
6
Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. 6 57
1302614 1992
7
A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). 6 57
1484692 1992
8
Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. 57 6
1882937 1991
9
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 6 57
2215617 1990
10
Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3. 6 57
2333895 1990
11
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. 6 57
2137202 1990
12
Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. 6 57
2613244 1989
13
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model. 57
33508235 2021
14
Tauroursodeoxycholic acid prevents retinal degeneration in transgenic P23H rats. 57
21508111 2011
15
Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa. 57
21357407 2011
16
Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations. 57
21224384 2011
17
A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. 57
21174529 2011
18
RNA interference-mediated suppression and replacement of human rhodopsin in vivo. 57
17564969 2007
19
Increased sensitivity to light-induced damage in a mouse model of autosomal dominant retinal disease. 57
17460245 2007
20
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. 57
17325176 2007
21
Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa. 57
16049034 2005
22
Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. 6
15509574 2005
23
Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. 6
14769795 2004
24
Opsin activation as a cause of congenital night blindness. 57
12778053 2003
25
Susceptibility to retinal light damage in transgenic rats with rhodopsin mutations. 57
12556372 2003
26
Blinded by the light. 57
12355075 2002
27
A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. 6
12091393 2002
28
Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. 57
11972042 2002
29
Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients. 6
11910130 2001
30
Morphological, physiological, and biochemical changes in rhodopsin knockout mice. 57
9892703 1999
31
Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures. 57
9751768 1998
32
Retinopathy induced in mice by targeted disruption of the rhodopsin gene. 57
9020854 1997
33
Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments. 6
8943080 1996
34
Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 6
8554077 1996
35
A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment. 6
7523628 1994
36
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 6
8088850 1994
37
A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease. 6
8240107 1993
38
Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. 6
8406457 1993
39
Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin. 6
8353500 1993
40
Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene. 57
8516292 1993
41
A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. 57
8512476 1993
42
Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q. 57
8430695 1993
43
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. 57
1418997 1992
44
Constitutively active mutants of rhodopsin. 6
1356370 1992
45
Retinal genetics: a nullifying effect for rhodopsin. 57
1303226 1992
46
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. 57
1303237 1992
47
Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa. 6
1580841 1992
48
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. 57
1301135 1992
49
Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families. 6
1539595 1992
50
Autosomal dominant retinitis pigmentosa: a mutation in codon 178 of the rhodopsin gene in two families of Celtic origin. 6
1783387 1991

Variations for Retinitis Pigmentosa 4

ClinVar genetic disease variations for Retinitis Pigmentosa 4:

6 (show top 50) (show all 103)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHO NM_000539.3(RHO):c.886A>G (p.Lys296Glu) SNV Pathogenic 13030 rs29001653 GRCh37: 3:129251565-129251565
GRCh38: 3:129532722-129532722
2 RHO RHO, 12-BP DEL, EX1 Deletion Pathogenic 13031 GRCh37:
GRCh38:
3 RHO NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) SNV Pathogenic 13032 rs29001566 GRCh37: 3:129252554-129252554
GRCh38: 3:129533711-129533711
4 RHO NM_000539.3(RHO):c.544G>A (p.Gly182Ser) SNV Pathogenic 13033 rs104893780 GRCh37: 3:129251107-129251107
GRCh38: 3:129532264-129532264
5 RHO NM_000539.3(RHO):c.800C>T (p.Pro267Leu) SNV Pathogenic 13034 rs104893781 GRCh37: 3:129251479-129251479
GRCh38: 3:129532636-129532636
6 RHO NM_000539.3(RHO):c.329G>A (p.Cys110Tyr) SNV Pathogenic 13035 rs104893787 GRCh37: 3:129247905-129247905
GRCh38: 3:129529062-129529062
7 RHO NM_000539.3(RHO):c.158C>G (p.Pro53Arg) SNV Pathogenic 13037 rs28933395 GRCh37: 3:129247734-129247734
GRCh38: 3:129528891-129528891
8 RHO RHO, IVS4AS, G-T, +1 SNV Pathogenic 13039 GRCh37:
GRCh38:
9 RHO NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) SNV Pathogenic 13040 rs104893779 GRCh37: 3:129251131-129251131
GRCh38: 3:129532288-129532288
10 RHO NM_000539.3(RHO):c.44A>G (p.Asn15Ser) SNV Pathogenic 13042 rs104893786 GRCh37: 3:129247620-129247620
GRCh38: 3:129528777-129528777
11 RHO NM_000539.3(RHO):c.620T>G (p.Met207Arg) SNV Pathogenic 13043 rs104893782 GRCh37: 3:129251183-129251183
GRCh38: 3:129532340-129532340
12 RHO NM_000539.3(RHO):c.151G>C (p.Gly51Arg) SNV Pathogenic 13047 rs104893792 GRCh37: 3:129247727-129247727
GRCh38: 3:129528884-129528884
13 RHO NM_000539.3(RHO):c.341G>A (p.Gly114Asp) SNV Pathogenic 13048 rs104893788 GRCh37: 3:129247917-129247917
GRCh38: 3:129529074-129529074
14 RHO NM_000539.3(RHO):c.491C>A (p.Ala164Glu) SNV Pathogenic 13049 rs104893793 GRCh37: 3:129249848-129249848
GRCh38: 3:129531005-129531005
15 RHO NM_000539.3(RHO):c.511C>T (p.Pro171Ser) SNV Pathogenic 13050 rs104893794 GRCh37: 3:129249868-129249868
GRCh38: 3:129531025-129531025
16 RHO NM_000539.3(RHO):c.789_791CTG[1] (p.Cys264del) Microsatellite Pathogenic 13051 rs121918590 GRCh37: 3:129251468-129251470
GRCh38: 3:129532625-129532627
17 RHO NM_000539.3(RHO):c.1033G>C (p.Val345Leu) SNV Pathogenic 13052 rs104893795 GRCh37: 3:129252547-129252547
GRCh38: 3:129533704-129533704
18 RHO NM_000539.3(RHO):c.1040C>A (p.Pro347Gln) SNV Pathogenic 13053 rs29001566 GRCh37: 3:129252554-129252554
GRCh38: 3:129533711-129533711
19 RHO NM_000539.3(RHO):c.67C>G (p.Pro23Ala) SNV Pathogenic 13055 rs104893797 GRCh37: 3:129247643-129247643
GRCh38: 3:129528800-129528800
20 RHO I255del Deletion Pathogenic 13017 GRCh37:
GRCh38:
21 RHO NM_000539.3(RHO):c.133T>C (p.Phe45Leu) SNV Pathogenic 13019 rs104893770 GRCh37: 3:129247709-129247709
GRCh38: 3:129528866-129528866
22 RHO NM_000539.3(RHO):c.260T>A (p.Val87Asp) SNV Pathogenic 13020 rs104893771 GRCh37: 3:129247836-129247836
GRCh38: 3:129528993-129528993
23 RHO NM_000539.3(RHO):c.266G>A (p.Gly89Asp) SNV Pathogenic 13021 rs104893772 GRCh37: 3:129247842-129247842
GRCh38: 3:129528999-129528999
24 RHO NM_000539.3(RHO):c.316G>T (p.Gly106Trp) SNV Pathogenic 13022 rs104893773 GRCh37: 3:129247892-129247892
GRCh38: 3:129529049-129529049
25 RHO NM_000539.3(RHO):c.568G>A (p.Asp190Asn) SNV Pathogenic 13023 rs104893779 GRCh37: 3:129251131-129251131
GRCh38: 3:129532288-129532288
26 RHO NM_000539.3(RHO):c.569A>G (p.Asp190Gly) SNV Pathogenic 13026 rs104893777 GRCh37: 3:129251132-129251132
GRCh38: 3:129532289-129532289
27 RHO NM_000539.3(RHO):c.53G>A (p.Gly18Asp) SNV Pathogenic 625297 rs200946638 GRCh37: 3:129247629-129247629
GRCh38: 3:129528786-129528786
28 RHO NM_000539.3(RHO):c.302G>T (p.Gly101Val) SNV Pathogenic 625301 rs759945007 GRCh37: 3:129247878-129247878
GRCh38: 3:129529035-129529035
29 RHO NM_000539.3(RHO):c.1039C>T (p.Pro347Ser) SNV Pathogenic 13015 rs29001637 GRCh37: 3:129252553-129252553
GRCh38: 3:129533710-129533710
30 RHO NM_000539.3(RHO):c.557C>G (p.Ser186Trp) SNV Pathogenic 802006 rs371288618 GRCh37: 3:129251120-129251120
GRCh38: 3:129532277-129532277
31 RHO NM_000539.3(RHO):c.937-2A>T SNV Pathogenic 802007 rs1578281565 GRCh37: 3:129252449-129252449
GRCh38: 3:129533606-129533606
32 RHO NM_000539.3(RHO):c.888G>C (p.Lys296Asn) SNV Pathogenic 955802 GRCh37: 3:129251567-129251567
GRCh38: 3:129532724-129532724
33 RHO NM_000539.3(RHO):c.512C>T (p.Pro171Leu) SNV Pathogenic 862966 GRCh37: 3:129249869-129249869
GRCh38: 3:129531026-129531026
34 RHO NM_000539.3(RHO):c.325G>A (p.Gly109Arg) SNV Pathogenic 866181 GRCh37: 3:129247901-129247901
GRCh38: 3:129529058-129529058
35 RHO NM_000539.3(RHO):c.328T>C (p.Cys110Arg) SNV Pathogenic 867081 GRCh37: 3:129247904-129247904
GRCh38: 3:129529061-129529061
36 RHO NM_000539.3(RHO):c.1040del (p.Pro347fs) Deletion Pathogenic 984779 GRCh37: 3:129252551-129252551
GRCh38: 3:129533708-129533708
37 RHO NM_000539.3(RHO):c.68C>A (p.Pro23His) SNV Pathogenic 13013 rs104893768 GRCh37: 3:129247644-129247644
GRCh38: 3:129528801-129528801
38 RHO NM_000539.3(RHO):c.404G>T (p.Arg135Leu) SNV Pathogenic 13024 rs104893774 GRCh37: 3:129249761-129249761
GRCh38: 3:129530918-129530918
39 RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp) SNV Pathogenic 13028 rs104893775 GRCh37: 3:129249760-129249760
GRCh38: 3:129530917-129530917
40 RHO NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) SNV Pathogenic 13029 rs104893778 GRCh37: 3:129252544-129252544
GRCh38: 3:129533701-129533701
41 RHO NM_000539.3(RHO):c.68C>A (p.Pro23His) SNV Pathogenic 13013 rs104893768 GRCh37: 3:129247644-129247644
GRCh38: 3:129528801-129528801
42 RHO NM_000539.3(RHO):c.50C>T (p.Thr17Met) SNV Pathogenic 13018 rs104893769 GRCh37: 3:129247626-129247626
GRCh38: 3:129528783-129528783
43 RHO NM_000539.3(RHO):c.512C>A (p.Pro171Gln) SNV Pathogenic 866418 GRCh37: 3:129249869-129249869
GRCh38: 3:129531026-129531026
44 RHO NM_000539.3(RHO):c.541G>A (p.Glu181Lys) SNV Pathogenic/Likely pathogenic 196282 rs775557680 GRCh37: 3:129251104-129251104
GRCh38: 3:129532261-129532261
45 RHO NM_000539.3(RHO):c.509C>G (p.Pro170Arg) SNV Pathogenic/Likely pathogenic 437997 rs1553781176 GRCh37: 3:129249866-129249866
GRCh38: 3:129531023-129531023
46 RHO NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) SNV Pathogenic/Likely pathogenic 13014 rs29001566 GRCh37: 3:129252554-129252554
GRCh38: 3:129533711-129533711
47 RHO NM_000539.3(RHO):c.173C>G (p.Thr58Arg) SNV Pathogenic/Likely pathogenic 13016 rs28933394 GRCh37: 3:129247749-129247749
GRCh38: 3:129528906-129528906
48 RHO NM_000539.3(RHO):c.328T>G (p.Cys110Gly) SNV Likely pathogenic 635416 rs1578278438 GRCh37: 3:129247904-129247904
GRCh38: 3:129529061-129529061
49 RHO NM_000539.3(RHO):c.45T>G (p.Asn15Lys) SNV Likely pathogenic 802004 rs1578278088 GRCh37: 3:129247621-129247621
GRCh38: 3:129528778-129528778
50 RHO NM_000539.3(RHO):c.317G>T (p.Gly106Val) SNV Likely pathogenic 802005 rs1578278417 GRCh37: 3:129247893-129247893
GRCh38: 3:129529050-129529050

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 4:

72 (show top 50) (show all 66)
# Symbol AA change Variation ID SNP ID
1 RHO p.Thr4Lys VAR_004765
2 RHO p.Asn15Ser VAR_004766 rs104893786
3 RHO p.Thr17Met VAR_004767 rs104893769
4 RHO p.Pro23His VAR_004768 rs104893768
5 RHO p.Pro23Leu VAR_004769
6 RHO p.Gln28His VAR_004770
7 RHO p.Leu40Arg VAR_004771
8 RHO p.Met44Thr VAR_004772 rs774336493
9 RHO p.Phe45Leu VAR_004773 rs104893770
10 RHO p.Leu46Arg VAR_004774
11 RHO p.Gly51Arg VAR_004776 rs104893792
12 RHO p.Gly51Val VAR_004777
13 RHO p.Pro53Arg VAR_004778 rs28933395
14 RHO p.Thr58Arg VAR_004779 rs28933394
15 RHO p.Val87Asp VAR_004781 rs104893771
16 RHO p.Gly89Asp VAR_004782 rs104893772
17 RHO p.Gly106Arg VAR_004786 rs104893773
18 RHO p.Gly106Trp VAR_004787 rs104893773
19 RHO p.Gly109Arg VAR_004788 rs141516029
20 RHO p.Cys110Phe VAR_004789
21 RHO p.Cys110Tyr VAR_004790 rs104893787
22 RHO p.Gly114Asp VAR_004791 rs104893788
23 RHO p.Leu125Arg VAR_004792
24 RHO p.Ser127Phe VAR_004793
25 RHO p.Leu131Pro VAR_004794 rs155378114
26 RHO p.Arg135Gly VAR_004795
27 RHO p.Arg135Leu VAR_004796 rs104893774
28 RHO p.Arg135Trp VAR_004797 rs104893775
29 RHO p.Cys140Ser VAR_004798
30 RHO p.Glu150Lys VAR_004799 rs104893791
31 RHO p.Ala164Glu VAR_004800 rs104893793
32 RHO p.Ala164Val VAR_004801 rs104893793
33 RHO p.Cys167Arg VAR_004802
34 RHO p.Pro171Leu VAR_004803
35 RHO p.Pro171Gln VAR_004804
36 RHO p.Pro171Ser VAR_004805 rs104893794
37 RHO p.Tyr178Cys VAR_004806 rs104893776
38 RHO p.Tyr178Asn VAR_004807
39 RHO p.Glu181Lys VAR_004808 rs775557680
40 RHO p.Gly182Ser VAR_004809 rs104893780
41 RHO p.Ser186Pro VAR_004810
42 RHO p.Gly188Glu VAR_004811 rs142413184
43 RHO p.Gly188Arg VAR_004812 rs527236100
44 RHO p.Asp190Asn VAR_004813 rs104893779
45 RHO p.Asp190Gly VAR_004814 rs104893777
46 RHO p.Asp190Tyr VAR_004815 rs104893779
47 RHO p.Met207Arg VAR_004816 rs104893782
48 RHO p.His211Pro VAR_004818 rs28933993
49 RHO p.His211Arg VAR_004819
50 RHO p.Met216Lys VAR_004820

Expression for Retinitis Pigmentosa 4

Search GEO for disease gene expression data for Retinitis Pigmentosa 4.

Pathways for Retinitis Pigmentosa 4

Pathways related to Retinitis Pigmentosa 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.77 SERPINA3 RHO GNAT1

GO Terms for Retinitis Pigmentosa 4

Cellular components related to Retinitis Pigmentosa 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.16 RHO GNAT1
2 photoreceptor outer segment membrane GO:0042622 8.96 RHO GNAT1
3 photoreceptor outer segment GO:0001750 8.8 RPGR RHO GNAT1

Biological processes related to Retinitis Pigmentosa 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phototransduction GO:0007602 9.37 RHO GNAT1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.32 RHO GNAT1
3 response to light stimulus GO:0009416 9.26 RHO GNAT1
4 rhodopsin mediated signaling pathway GO:0016056 9.16 RHO GNAT1
5 phototransduction, visible light GO:0007603 8.96 RHO GNAT1
6 visual perception GO:0007601 8.92 RPGR RP2 RHO GNAT1

Sources for Retinitis Pigmentosa 4

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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