Retinitis Pigmentosa 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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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:

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Symptoms & Phenotypes for Retinitis Pigmentosa 4

Human phenotypes related to Retinitis Pigmentosa 4:

³⁰ (show all 7)

#	Description	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

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Drugs & Therapeutics for Retinitis Pigmentosa 4

Search Clinical Trials, NIH Clinical Center for Retinitis Pigmentosa 4

Cochrane evidence based reviews: retinitis pigmentosa 4

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Genetic Tests for Retinitis Pigmentosa 4

Genetic tests related to Retinitis Pigmentosa 4:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 4 ²⁸	RHO

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Anatomical Context for Retinitis Pigmentosa 4

Organs/tissues related to Retinitis Pigmentosa 4:

MalaCards : Retina, Eye

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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	Guo H...Chen Y	20555336	2010
2	Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation. ⁵⁷ ⁵	Oh KT...Stone EM	10980774	2000
3	Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp). Disease phenotype in a Swedish family. ⁵⁷ ⁵	Ponjavic V...Fex G	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	Pannarale MR...Del Porto G	8841304	1996
5	Evidence against a second autosomal dominant retinitis pigmentosa locus close to rhodopsin on chromosome 3q. ⁵⁷ ⁵	Inglehearn C...Bhattacharya S	8328469	1993
6	Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family. ⁵⁷ ⁵	Farrar GJ...Humphries P	1302614	1992
7	A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). ⁵⁷ ⁵	Andreasson S...Fex G	1484692	1992
8	A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. ⁵⁷ ⁵	Inglehearn CF...Bhattacharya S	1301135	1992
9	Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. ⁵⁷ ⁵	Jacobson SG...Nathans J	1882937	1991
10	Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. ⁵⁷ ⁵	Dryja TP...Berson EL	2215617	1990
11	Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3. ⁵⁷ ⁵	Olsson JE...Gal A	2333895	1990
12	A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. ⁵⁷ ⁵	Dryja TP...Berson EL	2137202	1990
13	Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. ⁵⁷ ⁵	McWilliam P...Ryan C	2613244	1989
14	Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model. ⁵⁷	Patrizi C...Recchia A	33508235	2021
15	Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. ⁵	Colombo L...Rossetti L	33576794	2021
16	Characterizing variants of unknown significance in rhodopsin: A functional genomics approach. ⁵	Wan A...Comander J	30977563	2019
17	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. ⁵	Jespersgaard C...Gronskov K	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	Wang L...Yang L	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	Zhou L...Zhang Q	29453956	2018
20	Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. ⁵	Martin-Merida I...Ayuso C	29847639	2018
21	Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. ⁵	Stone EM...Tucker BA	28559085	2017
22	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁵	Carss KJ...Raymond FL	28041643	2017
23	Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. ⁵	Van Cauwenbergh C...De Baere E	28076437	2017
24	Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. ⁵	Beryozkin A...Sharon D	26962691	2016
25	Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations. ⁵	Bonilha VL...Hagstrom SA	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	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
27	Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa. ⁵	Yang G...Zhao J	25221422	2014
28	Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa. ⁵	Wu J...Jin ZB	25101269	2014
29	Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa. ⁵	McKeone R...Rakoczy PE	24520188	2014
30	Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulation. ⁵	Chiang WC...Lin JH	22956602	2012
31	A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family. ⁵	Nalbantoglu SM...Berdeli A	22321012	2012
32	Mislocalization and degradation of human P23H-rhodopsin-GFP in a knockin mouse model of retinitis pigmentosa. ⁵	Price BA...Wilson JH	22110080	2011
33	Tauroursodeoxycholic acid prevents retinal degeneration in transgenic P23H rats. ⁵⁷	Fernandez-Sanchez L...Cuenca N	21508111	2011
34	Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa. ⁵⁷	Hernan I...Carballo M	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	Sakami S...Palczewski K	21224384	2011
36	A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa. ⁵⁷	Kartasasmita A...Murakami A	21174529	2011
37	Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations. ⁵	Rakoczy EP...Serrano L	21094163	2011
38	Retinobenzaldehydes as proper-trafficking inducers of folding-defective P23H rhodopsin mutant responsible for retinitis pigmentosa. ⁵	Ohgane K...Hashimoto Y	20805032	2010
39	The dependence of retinal degeneration caused by the rhodopsin P23H mutation on light exposure and vitamin a deprivation. ⁵	Tam BM...Moritz OL	19933196	2010
40	Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue. ⁵	Krebs MP...Kaushal S	19913029	2010
41	Severe retinal degeneration caused by a novel rhodopsin mutation. ⁵	Liu H...Gong X	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	Mokarzel-Falcon L...Montero-Cabrera LA	18175313	2008
43	RNA interference-mediated suppression and replacement of human rhodopsin in vivo. ⁵⁷	O'Reilly M...Farrar GJ	17564969	2007
44	Increased sensitivity to light-induced damage in a mouse model of autosomal dominant retinal disease. ⁵⁷	White DA...Lewin AS	17460245	2007
45	Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. ⁵⁷	Sandberg MA...Berson EL	17325176	2007
46	Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. ⁵	Iannaccone A...Klein-Seetharaman J	17014888	2006
47	Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa. ⁵⁷	Galy A...Giangrande A	16049034	2005
48	Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. ⁵	Rajan RS...Kopito RR	15509574	2005
49	Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes. ⁵	Chuang JZ...Sung CH	15232620	2004
50	The spectrum of human rhodopsin disease mutations through the lens of interspecific variation. ⁵	Briscoe AD...Kumar S	15145060	2004

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Genes for Retinitis Pigmentosa 4

Genes related to Retinitis Pigmentosa 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RHO	Rhodopsin	Protein Coding	1347.23	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Gene name (show sections)	1301135 1302614 1356370 (more) 1484692 1539595 1580841 1765377 1833777 1840561 1862076 1882937 1897520 1929926 1985460 1987955 1987956 2137202 2215617 2239971 2333895 2613244 7523628 8088850 8240107 8253795 8317502 8328469 8353500 8554077 8841304 8905849 8943080 9197578 10980774 11094174 11139241 11910130 12091393 14769795 15232620 15509574 17014888 18175313 19913029 19933196 20555336 20805032 21094163 22110080 24520188 25101269 25221422 26202387 28041643 28076437 28559085 29453956 29847639 30718709 30977563 1783387 8081400 8406457 15145060 19741247 22321012 22956602 25741868 26962691 30029497 33576794
2	WDR72	WD Repeat Domain 72	Protein Coding	5.82	DISEASES inferred ¹⁴
3	WDR7	WD Repeat Domain 7	Protein Coding	5.7	DISEASES inferred ¹⁴
4	IRAG1	Inositol 1,4,5-Triphosphate Receptor Associated 1	Protein Coding	5.67	DISEASES inferred ¹⁴
5	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	5.58	DISEASES inferred ¹⁴
6	STK19	Serine/Threonine Kinase 19	Protein Coding	5.52	DISEASES inferred ¹⁴
7	PPEF1	Protein Phosphatase With EF-Hand Domain 1	Protein Coding	5.35	DISEASES inferred ¹⁴
8	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	5.25	DISEASES inferred ¹⁴
9	CC2D2A	Coiled-Coil And C2 Domain Containing 2A	Protein Coding	5.23	DISEASES inferred ¹⁴
10	IQCB1	IQ Motif Containing B1	Protein Coding	5.23	DISEASES inferred ¹⁴

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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

Sources

Expression for Retinitis Pigmentosa 4

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

Sources

Pathways for Retinitis Pigmentosa 4

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

#	Super pathways	Score	Top Affiliating Genes
1	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	11.67	RHO PPEF1 GNAT1
2	Visual Cycle in Retinal Rods ⁶⁴	10.77	RHO GNAT1 CNGA3

Sources

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

Sources for Retinitis Pigmentosa 4

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

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¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Retinitis Pigmentosa 4 (RP4)

Aliases & Classifications for Retinitis Pigmentosa 4

MalaCards integrated aliases for Retinitis Pigmentosa 4:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 4

Related Diseases for Retinitis Pigmentosa 4

Diseases in the Retinitis Pigmentosa family:

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

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

Symptoms & Phenotypes for Retinitis Pigmentosa 4

Human phenotypes related to Retinitis Pigmentosa 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Retinitis Pigmentosa 4:

Drugs & Therapeutics for Retinitis Pigmentosa 4

Cochrane evidence based reviews: retinitis pigmentosa 4

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Genetic tests related to Retinitis Pigmentosa 4:

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Genes for Retinitis Pigmentosa 4

Genes related to Retinitis Pigmentosa 4 (1 elite genes):

Variations for Retinitis Pigmentosa 4

ClinVar genetic disease variations for Retinitis Pigmentosa 4:

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

Expression for Retinitis Pigmentosa 4

Pathways for Retinitis Pigmentosa 4

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

GO Terms for Retinitis Pigmentosa 4

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

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

Sources for Retinitis Pigmentosa 4