RP4
MCID: RTN066
MIFTS: 43

Retinitis Pigmentosa 4 (RP4)

Categories: Bone diseases, Ear diseases, Eye diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Retinitis Pigmentosa 4

MalaCards integrated aliases for Retinitis Pigmentosa 4:

Name: Retinitis Pigmentosa 4 57 11 73 28 5 43 14 71
Rp4 57 11 73
Retinitis Pigmentosa 4, Autosomal Dominant or Recessive 57 12
Retinitis Pigmentosa, Rhodopsin-Related 57
Retinitis Pigmentosa, Type 4 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
mild asymmetric regional disease (e.g. )
onset in first decade (e.g. )


Classifications:



External Ids:

Disease Ontology 11 DOID:0110372
OMIM® 57 613731
OMIM Phenotypic Series 57 PS268000
ICD10 31 H35.5
MedGen 40 C3151001
UMLS 71 C3151001

Summaries for Retinitis Pigmentosa 4

UniProtKB/Swiss-Prot: 73 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 usher syndrome and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 4 is RHO (Rhodopsin), and among its related pathways/superpathways are Visual phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include retina and eye, and related phenotypes are cataract and blindness

Disease Ontology: 11 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 91 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 Retinitis Pigmentosa 92
Retinitis Pigmentosa 93 Retinitis Pigmentosa 95
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 29.5 RHO IQCB1 CNGA3
2 retinitis pigmentosa 29.0 RHO IQCB1 GNAT1 CNGA3 CC2D2A
3 klebsiella infection 10.2
4 kohlschutter-tonz syndrome 10.2 WDR72 WDR7
5 night blindness, congenital stationary, autosomal dominant 1 10.2 RHO GNAT1
6 retinitis 10.1
7 parkinson-dementia syndrome 10.1
8 cholera 10.1
9 leber congenital amaurosis 10 10.1 RHO IQCB1
10 solar retinopathy 10.1 RHO CNGA3
11 chorioretinal scar 10.1 RHO CNGA3
12 red-green color blindness 10.0 RHO CNGA3
13 color blindness 10.0 RHO CNGA3
14 colorblindness, partial, protan series 10.0 RHO CNGA3
15 peripheral retinal degeneration 10.0 RHO CNGA3
16 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
17 scotoma 10.0 RHO CNGA3
18 choroid disease 10.0 RHO CNGA3
19 retinitis pigmentosa 26 10.0 RHO CNGA3
20 prolonged electroretinal response suppression 10.0 RHO CNGA3
21 usher syndrome type 2 10.0
22 retinitis pigmentosa 3 10.0 STK19 IQCB1
23 enhanced s-cone syndrome 10.0 RHO CNGA3
24 gyrate atrophy of choroid and retina 9.9 RHO CNGA3
25 fundus albipunctatus 9.9 RHO GNAT1
26 choroideremia 9.9 RHO CNGA3
27 retinoschisis 1, x-linked, juvenile 9.9 RHO CNGA3
28 colorectal cancer 9.9
29 hair whorl 9.9
30 schilbach-rott syndrome 9.9
31 androgen insensitivity, partial 9.9
32 leukemia, acute myeloid 9.9
33 legionnaire disease 9.9
34 microphthalmia, syndromic 10 9.9
35 helix syndrome 9.9
36 hantavirus hemorrhagic fever with renal syndrome 9.9
37 reading disorder 9.9
38 hypolipoproteinemia 9.9
39 gastric antral vascular ectasia 9.9
40 myeloid leukemia 9.9
41 acute myeloid leukemia with recurrent genetic anomaly 9.9
42 anaplastic oligoastrocytoma 9.9
43 catastrophic antiphospholipid syndrome 9.9
44 cryopyrin-associated periodic syndrome 9.9
45 immune-mediated thrombotic thrombocytopenic purpura 9.9
46 vitelliform macular dystrophy 9.8 RHO CNGA3
47 cogan syndrome 9.8 IQCB1 CC2D2A
48 nephronophthisis 11 9.8 IQCB1 CC2D2A
49 nephronophthisis 19 9.8 IQCB1 CC2D2A
50 achromatopsia 9.8 RHO IQCB1 CNGA3

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:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 30 HP:0000518
2 blindness 30 HP:0000618
3 abnormal electroretinogram 30 HP:0000512
4 nyctalopia 30 HP:0000662
5 rod-cone dystrophy 30 HP:0000510
6 pigmentary retinopathy 30 HP:0000580
7 visual field defect 30 HP:0001123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 4:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CC2D2A CNGA3 GNAT1 IQCB1 PPEF1 RHO

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 28 RHO

Anatomical Context for Retinitis Pigmentosa 4

Organs/tissues related to Retinitis Pigmentosa 4:

MalaCards : Retina, Eye

Publications for Retinitis Pigmentosa 4

Articles related to Retinitis Pigmentosa 4:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa. 57 5
20555336 2010
2
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation. 57 5
10980774 2000
3
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. 57 5
9197578 1997
4
Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations. 57 5
8841304 1996
5
Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q. 57 5
8328469 1993
6
Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. 57 5
1302614 1992
7
A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). 57 5
1484692 1992
8
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. 57 5
1301135 1992
9
Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. 57 5
1882937 1991
10
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 57 5
2215617 1990
11
Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3. 57 5
2333895 1990
12
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. 57 5
2137202 1990
13
Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. 57 5
2613244 1989
14
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model. 57
33508235 2021
15
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. 5
33576794 2021
16
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach. 5
30977563 2019
17
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 5
30718709 2019
18
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. 5
30029497 2018
19
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing. 5
29453956 2018
20
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. 5
29847639 2018
21
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 5
28559085 2017
22
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 5
28041643 2017
23
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. 5
28076437 2017
24
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. 5
26962691 2016
25
Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations. 5
26202387 2015
26
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 5
25741868 2015
27
Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa. 5
25221422 2014
28
Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa. 5
25101269 2014
29
Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa. 5
24520188 2014
30
Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulation. 5
22956602 2012
31
A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family. 5
22321012 2012
32
Mislocalization and degradation of human P23H-rhodopsin-GFP in a knockin mouse model of retinitis pigmentosa. 5
22110080 2011
33
Tauroursodeoxycholic acid prevents retinal degeneration in transgenic P23H rats. 57
21508111 2011
34
Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa. 57
21357407 2011
35
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
36
A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. 57
21174529 2011
37
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations. 5
21094163 2011
38
Retinobenzaldehydes as proper-trafficking inducers of folding-defective P23H rhodopsin mutant responsible for retinitis pigmentosa. 5
20805032 2010
39
The dependence of retinal degeneration caused by the rhodopsin P23H mutation on light exposure and vitamin a deprivation. 5
19933196 2010
40
Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue. 5
19913029 2010
41
Severe retinal degeneration caused by a novel rhodopsin mutation. 5
19741247 2010
42
In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases. 5
18175313 2008
43
RNA interference-mediated suppression and replacement of human rhodopsin in vivo. 57
17564969 2007
44
Increased sensitivity to light-induced damage in a mouse model of autosomal dominant retinal disease. 57
17460245 2007
45
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. 57
17325176 2007
46
Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. 5
17014888 2006
47
Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa. 57
16049034 2005
48
Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. 5
15509574 2005
49
Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes. 5
15232620 2004
50
The spectrum of human rhodopsin disease mutations through the lens of interspecific variation. 5
15145060 2004

Variations for Retinitis Pigmentosa 4

ClinVar genetic disease variations for Retinitis Pigmentosa 4:

5 (show top 50) (show all 108)
# 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 NM_000539.3(RHO):c.158C>G (p.Pro53Arg) SNV Pathogenic
13037 rs28933395 GRCh37: 3:129247734-129247734
GRCh38: 3:129528891-129528891
3 RHO NM_000539.3(RHO):c.620T>G (p.Met207Arg) SNV Pathogenic
13043 rs104893782 GRCh37: 3:129251183-129251183
GRCh38: 3:129532340-129532340
4 RHO NM_000539.3(RHO):c.341G>A (p.Gly114Asp) SNV Pathogenic
13048 rs104893788 GRCh37: 3:129247917-129247917
GRCh38: 3:129529074-129529074
5 RHO NM_000539.3(RHO):c.1040C>A (p.Pro347Gln) SNV Pathogenic
13053 rs29001566 GRCh37: 3:129252554-129252554
GRCh38: 3:129533711-129533711
6 RHO NM_000539.3(RHO):c.67C>G (p.Pro23Ala) SNV Pathogenic
13055 rs104893797 GRCh37: 3:129247643-129247643
GRCh38: 3:129528800-129528800
7 RHO NM_000539.3(RHO):c.1039C>T (p.Pro347Ser) SNV Pathogenic
13015 rs29001637 GRCh37: 3:129252553-129252553
GRCh38: 3:129533710-129533710
8 RHO NM_000539.3(RHO):c.133T>C (p.Phe45Leu) SNV Pathogenic
13019 rs104893770 GRCh37: 3:129247709-129247709
GRCh38: 3:129528866-129528866
9 RHO NM_000539.3(RHO):c.260T>A (p.Val87Asp) SNV Pathogenic
13020 rs104893771 GRCh37: 3:129247836-129247836
GRCh38: 3:129528993-129528993
10 RHO NM_000539.3(RHO):c.302G>T (p.Gly101Val) SNV Pathogenic
625301 rs759945007 GRCh37: 3:129247878-129247878
GRCh38: 3:129529035-129529035
11 RHO NM_000539.3(RHO):c.557C>G (p.Ser186Trp) SNV Pathogenic
802006 rs371288618 GRCh37: 3:129251120-129251120
GRCh38: 3:129532277-129532277
12 RHO NM_000539.3(RHO):c.937-2A>T SNV Pathogenic
802007 rs1578281565 GRCh37: 3:129252449-129252449
GRCh38: 3:129533606-129533606
13 RHO NM_000539.3(RHO):c.325G>A (p.Gly109Arg) SNV Pathogenic
866181 rs1415160298 GRCh37: 3:129247901-129247901
GRCh38: 3:129529058-129529058
14 RHO NM_000539.3(RHO):c.1040del (p.Pro347fs) DEL Pathogenic
984779 rs2084801618 GRCh37: 3:129252551-129252551
GRCh38: 3:129533708-129533708
15 RHO NM_000539.3(RHO):c.937-2A>G SNV Pathogenic
1213895 GRCh37: 3:129252449-129252449
GRCh38: 3:129533606-129533606
16 RHO NM_000539.3(RHO):c.266G>A (p.Gly89Asp) SNV Pathogenic
13021 rs104893772 GRCh37: 3:129247842-129247842
GRCh38: 3:129528999-129528999
17 RHO NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) SNV Pathogenic
13029 rs104893778 GRCh37: 3:129252544-129252544
GRCh38: 3:129533701-129533701
18 RHO NM_000539.3(RHO):c.1033G>C (p.Val345Leu) SNV Pathogenic
13052 rs104893795 GRCh37: 3:129252547-129252547
GRCh38: 3:129533704-129533704
19 RHO NM_000539.3(RHO):c.316G>T (p.Gly106Trp) SNV Pathogenic
13022 rs104893773 GRCh37: 3:129247892-129247892
GRCh38: 3:129529049-129529049
20 RHO NM_000539.3(RHO):c.404G>T (p.Arg135Leu) SNV Pathogenic
13024 rs104893774 GRCh37: 3:129249761-129249761
GRCh38: 3:129530918-129530918
21 RHO NM_000539.3(RHO):c.569A>G (p.Asp190Gly) SNV Pathogenic
13026 rs104893777 GRCh37: 3:129251132-129251132
GRCh38: 3:129532289-129532289
22 RHO NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) SNV Pathogenic
13032 rs29001566 GRCh37: 3:129252554-129252554
GRCh38: 3:129533711-129533711
23 RHO NM_000539.3(RHO):c.544G>A (p.Gly182Ser) SNV Pathogenic
13033 rs104893780 GRCh37: 3:129251107-129251107
GRCh38: 3:129532264-129532264
24 RHO NM_000539.3(RHO):c.800C>T (p.Pro267Leu) SNV Pathogenic
13034 rs104893781 GRCh37: 3:129251479-129251479
GRCh38: 3:129532636-129532636
25 RHO NM_000539.3(RHO):c.329G>A (p.Cys110Tyr) SNV Pathogenic
13035 rs104893787 GRCh37: 3:129247905-129247905
GRCh38: 3:129529062-129529062
26 RHO NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) SNV Pathogenic
13040 rs104893779 GRCh37: 3:129251131-129251131
GRCh38: 3:129532288-129532288
27 RHO NM_000539.3(RHO):c.151G>C (p.Gly51Arg) SNV Pathogenic
13047 rs104893792 GRCh37: 3:129247727-129247727
GRCh38: 3:129528884-129528884
28 RHO NM_000539.3(RHO):c.491C>A (p.Ala164Glu) SNV Pathogenic
13049 rs104893793 GRCh37: 3:129249848-129249848
GRCh38: 3:129531005-129531005
29 RHO NM_000539.3(RHO):c.511C>T (p.Pro171Ser) SNV Pathogenic
13050 rs104893794 GRCh37: 3:129249868-129249868
GRCh38: 3:129531025-129531025
30 RHO NM_000539.3(RHO):c.53G>A (p.Gly18Asp) SNV Pathogenic
625297 rs200946638 GRCh37: 3:129247629-129247629
GRCh38: 3:129528786-129528786
31 RHO NM_000539.3(RHO):c.888G>C (p.Lys296Asn) SNV Pathogenic
955802 rs2084793009 GRCh37: 3:129251567-129251567
GRCh38: 3:129532724-129532724
32 RHO NM_000539.3(RHO):c.568G>A (p.Asp190Asn) SNV Pathogenic
13023 rs104893779 GRCh37: 3:129251131-129251131
GRCh38: 3:129532288-129532288
33 RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp) SNV Pathogenic
13028 rs104893775 GRCh37: 3:129249760-129249760
GRCh38: 3:129530917-129530917
34 RHO NM_000539.3(RHO):c.44A>G (p.Asn15Ser) SNV Pathogenic
13042 rs104893786 GRCh37: 3:129247620-129247620
GRCh38: 3:129528777-129528777
35 RHO NM_000539.3(RHO):c.512C>A (p.Pro171Gln) SNV Pathogenic
866418 rs2084776162 GRCh37: 3:129249869-129249869
GRCh38: 3:129531026-129531026
36 RHO NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) MICROSAT Pathogenic
497286 rs1553781360 GRCh37: 3:129251440-129251442
GRCh38: 3:129532597-129532599
37 RHO NM_000539.3(RHO):c.68C>A (p.Pro23His) SNV Pathogenic
Pathogenic
13013 rs104893768 GRCh37: 3:129247644-129247644
GRCh38: 3:129528801-129528801
38 RHO NM_000539.3(RHO):c.50C>T (p.Thr17Met) SNV Pathogenic
13018 rs104893769 GRCh37: 3:129247626-129247626
GRCh38: 3:129528783-129528783
39 RHO NM_000539.3(RHO):c.328T>C (p.Cys110Arg) SNV Pathogenic
867081 rs1578278438 GRCh37: 3:129247904-129247904
GRCh38: 3:129529061-129529061
40 RHO NM_000539.3(RHO):c.563G>A (p.Gly188Glu) SNV Pathogenic/Likely Pathogenic
811432 rs1424131846 GRCh37: 3:129251126-129251126
GRCh38: 3:129532283-129532283
41 RHO NM_000539.3(RHO):c.541G>A (p.Glu181Lys) SNV Pathogenic/Likely Pathogenic
196282 rs775557680 GRCh37: 3:129251104-129251104
GRCh38: 3:129532261-129532261
42 RHO NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) SNV Pathogenic/Likely Pathogenic
13014 rs29001566 GRCh37: 3:129252554-129252554
GRCh38: 3:129533711-129533711
43 RHO NM_000539.3(RHO):c.173C>G (p.Thr58Arg) SNV Pathogenic/Likely Pathogenic
13016 rs28933394 GRCh37: 3:129247749-129247749
GRCh38: 3:129528906-129528906
44 RHO NM_000539.3(RHO):c.512C>T (p.Pro171Leu) SNV Pathogenic/Likely Pathogenic
862966 rs2084776162 GRCh37: 3:129249869-129249869
GRCh38: 3:129531026-129531026
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.316G>A (p.Gly106Arg) SNV Pathogenic/Likely Pathogenic
13038 rs104893773 GRCh37: 3:129247892-129247892
GRCh38: 3:129529049-129529049
47 RHO NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) MICROSAT Likely Pathogenic
13051 rs121918590 GRCh37: 3:129251468-129251470
GRCh38: 3:129532625-129532627
48 RHO NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) SNV Likely Pathogenic
143079 rs527236101 GRCh37: 3:129247756-129247756
GRCh38: 3:129528913-129528913
49 RHO NM_000539.3(RHO):c.204_215del (p.Arg69_Leu72del) DEL Likely Pathogenic
984776 rs2084757679 GRCh37: 3:129247778-129247789
GRCh38: 3:129528935-129528946
50 RHO NM_000539.3(RHO):c.810C>A (p.Ser270Arg) SNV Likely Pathogenic
636084 rs768210562 GRCh37: 3:129251489-129251489
GRCh38: 3:129532646-129532646

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

73 (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 rs1415160298
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 rs1553781140
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 rs1424131846
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

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 connecting cilium GO:0032391 9.56 IQCB1 GNAT1
2 photoreceptor disc membrane GO:0097381 9.46 RHO GNAT1
3 photoreceptor outer segment membrane GO:0042622 9.26 RHO GNAT1
4 photoreceptor outer segment GO:0001750 9.1 RHO IQCB1 GNAT1

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.8 RHO GNAT1 CNGA3
2 phototransduction GO:0007602 9.43 RHO GNAT1
3 response to light stimulus GO:0009416 9.33 RHO GNAT1
4 phototransduction, visible light GO:0007603 9.26 RHO GNAT1
5 rhodopsin mediated signaling pathway GO:0016056 8.92 RHO GNAT1

Sources for Retinitis Pigmentosa 4

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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