Retinitis Pigmentosa 39 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RP39 MCID: RTN141 MIFTS: 44	Retinitis Pigmentosa 39 (RP39) Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Retinitis Pigmentosa 39

MalaCards integrated aliases for Retinitis Pigmentosa 39:

Name: Retinitis Pigmentosa 39 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Rp39 ⁵⁷ ¹² ⁷²

Retinitis Pigmentosa, Type 39 ³⁹

Characteristics:

HPO:

³¹

retinitis pigmentosa 39:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110360

OMIM® ⁵⁷ 613809

OMIM Phenotypic Series ⁵⁷ PS268000

MeSH ⁴⁴ D012174

ICD10 ³² H35.5

MedGen ⁴¹ C3151138

SNOMED-CT via HPO ⁶⁸ 12184005 258211005 274524001 more

UMLS ⁷⁰ C3151138

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Summaries for Retinitis Pigmentosa 39

UniProtKB/Swiss-Prot : ⁷² Retinitis pigmentosa 39: 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 39, also known as rp39, is related to retinitis pigmentosa 28 and retinitis pigmentosa-deafness syndrome. An important gene associated with Retinitis Pigmentosa 39 is USH2A (Usherin), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. Affiliated tissues include retina, eye and bone, and related phenotypes are abnormal electroretinogram and rod-cone dystrophy

Disease Ontology : ¹² A retinitis pigmentosa that has material basis in mutation in the USH2A gene on chromosome 1q41.

More information from OMIM: 613809 PS268000

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Related Diseases for Retinitis Pigmentosa 39

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

(show all 50)

#	Related Disease	Score	Top Affiliating Genes
1	retinitis pigmentosa 28	10.2	RPGR RAB28
2	retinitis pigmentosa-deafness syndrome	10.2	USH2A-AS2 USH2A-AS1 USH2A
3	choroid disease	10.2	USH2A RPGR
4	usher syndrome, type iia	10.2	USH2A-AS2 USH2A-AS1 USH2A
5	usher syndrome, type i	10.2	USH2A-AS1 USH2A RPGR
6	bardet-biedl syndrome 7	10.2	RGS9BP CABP4
7	scotoma	10.1	USH2A RPGR
8	bardet-biedl syndrome 4	10.1	RGS9BP CABP4
9	fundus albipunctatus	10.1	RPGR RGS9BP CABP4
10	cone-rod dystrophy, x-linked, 3	10.1	RPGR CACNA2D4 CABP4
11	abnormal threshold of rods	10.1	RGS9BP CACNA2D4 CABP4
12	retinitis	10.0	USH2A RPGR PDE6A
13	rare genetic deafness	10.0	USH2A-AS2 USH2A-AS1 USH2A
14	macular dystrophy, dominant cystoid	10.0	USH2A RPGR PDE6A
15	retinitis pigmentosa 7	9.9	RPGR RGS9BP PDE6A
16	red-green color blindness	9.9	RPGR GNAT2
17	vitelliform macular dystrophy	9.9	USH2A RPGR PDE6A
18	nephronophthisis 4	9.9	RGS9BP PDE6A CABP4
19	digenic disease	9.9	USH2A PDE6G PDE6A
20	retinitis pigmentosa 25	9.9	RPGR PDE6G PDE6A
21	retinitis pigmentosa 29	9.9	PDE6A CNGA1
22	night blindness	9.9	USH2A RPGR GRK7 CABP4
23	hereditary retinal dystrophy	9.9	USH2A PDE6A CNGA1
24	usher syndrome, type iic	9.9	USH2A PDE6A
25	cone-rod dystrophy 16	9.8	RAB28 CACNA2D4
26	achromatopsia 2	9.8	GNAT2 CNGA1
27	usher syndrome, type iiia	9.8	USH2A PDE6A CNGA1
28	retinitis pigmentosa 1	9.8	PDE6G PDE6A CNGA1
29	pathologic nystagmus	9.8	RPGR GNAT2 CABP4
30	usher syndrome type 2	9.7	USH2A-AS2 USH2A-AS1 USH2A RPGR PDE6A
31	retinoschisis 1, x-linked, juvenile	9.7	USH2A RPGR GNAT2 CABP4
32	prolonged electroretinal response suppression	9.7	RGS9BP GRK7 GNAT2
33	oguchi disease 1	9.7	RGS9BP RAB28 PDE6G GRK7 CABP4
34	retinal degeneration	9.6	USH2A RPGR PDE6G GNAT2
35	retinal disease	9.6	USH2A RPGR PDE6A CNGA1 CABP4
36	stargardt disease	9.5	USH2A RPGR PDE6A GNAT2
37	eye disease	9.5	USH2A RPGR GNAT2 CACNA2D4 CABP4
38	color blindness	9.4	RPGR PDE6A GNAT2 CNGA1
39	enhanced s-cone syndrome	9.3	RPGR RGS9BP GRK7 GNAT2 CNGA1
40	cone-rod dystrophy 6	9.1	RPGR PDE6G PDE6A GNAT2 CACNA2D4 CABP4
41	oguchi disease 2	9.0	RGS9BP RAB8B RAB28 PDE6G GRK7 CNGA1
42	eye degenerative disease	9.0	USH2A RPGR PDE6A GRK7 GNAT2 CNGA1
43	cone dystrophy	8.8	USH2A RPGR RGS9BP PDE6A GNAT2 CNGA1
44	usher syndrome	8.8	USH2A-AS2 USH2A-AS1 USH2A RPGR PDE6A GRK7
45	achromatopsia	8.6	USH2A RPGR RGS9BP RAB28 PDE6A GNAT2
46	congenital stationary night blindness	8.3	USH2A RPGR RGS9BP PDE6G PDE6A GRK7
47	leber plus disease	8.3	USH2A-AS2 USH2A RPGR RGS9BP RAB28 PDE6G
48	cone-rod dystrophy 2	8.2	USH2A-AS2 USH2A-AS1 USH2A RPGR RGS9BP RAB28
49	fundus dystrophy	7.9	USH2A-AS2 USH2A-AS1 USH2A RPGR RGS9BP RAB28
50	retinitis pigmentosa	7.9	USH2A-AS2 USH2A-AS1 USH2A RPGR RGS9BP RAB28

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 39:

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Symptoms & Phenotypes for Retinitis Pigmentosa 39

Human phenotypes related to Retinitis Pigmentosa 39:

³¹

#	Description	HPO Source Accession
1	abnormal electroretinogram ³¹	HP:0000512
2	rod-cone dystrophy ³¹	HP:0000510
3	visual field defect ³¹	HP:0001123
4	attenuation of retinal blood vessels ³¹	HP:0007843
5	bone spicule pigmentation of the retina ³¹	HP:0007737

Clinical features from OMIM®:

613809 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 39:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.36	CABP4 CACNA2D4 GNAT2 PDE6A PDE6G PLAC8

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Drugs & Therapeutics for Retinitis Pigmentosa 39

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 39

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Genetic Tests for Retinitis Pigmentosa 39

Genetic tests related to Retinitis Pigmentosa 39:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 39 ²⁹	USH2A

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Anatomical Context for Retinitis Pigmentosa 39

MalaCards organs/tissues related to Retinitis Pigmentosa 39:

⁴⁰

Retina, Eye, Bone, Breast

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Publications for Retinitis Pigmentosa 39

Articles related to Retinitis Pigmentosa 39:

(show top 50) (show all 113)

#	Title	Authors	PMID	Year
1	Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. ⁵⁷ ⁶	McGee TL...Berson EL	20507924	2010
2	Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. ⁶ ⁵⁷	Kaiserman N...Sharon D	17296898	2007
3	Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. ⁵⁷ ⁶	Rivolta C...Dryja TP	12427073	2002
4	Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. ⁶ ⁵⁷	Rivolta C...Dryja TP	10775529	2000
5	Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. ⁶	Perez-Carro R...Ayuso C	29912909	2018
6	The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. ⁶	Comander J...Pierce EA	28981474	2017
7	Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. ⁶	Neuhaus C...Bolz HJ	28944237	2017
8	Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. ⁶	Sengillo JD...Tsang SH	28894305	2017
9	Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies. ⁶	Wang X...Fann YC	28838317	2017
10	Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. ⁶	Huang L...Yang Z	28512305	2017
11	The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. ⁶	Zazo Seco C...Yntema HG	28000701	2017
12	Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. ⁶	Bravo-Gil N...Antinolo G	28157192	2017
13	Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. ⁶	Jones KD...Daiger SP	28761320	2017
14	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁶	Carss KJ...Raymond FL	28041643	2017
15	An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. ⁶	Bonnet C...Petit C	27460420	2016
16	Molecular findings from 537 individuals with inherited retinal disease. ⁶	Ellingford JM...Black GCM	27208204	2016
17	Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations. ⁶	Carrigan M...Farrar GJ	27624628	2016
18	Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis. ⁶	Hettinga YM...de Boer JH	27157150	2016
19	Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. ⁶	Zhang Q...Chen R	27596865	2016
20	A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. ⁶	Hartel BP...Pennings RJ	27318125	2016
21	Usher syndrome in Denmark: mutation spectrum and some clinical observations. ⁶	Dad S...Moller LB	27957503	2016
22	Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. ⁶	Yan D...Tekin M	27344577	2016
23	Molecular diagnostic experience of whole-exome sequencing in adult patients. ⁶	Posey JE...Plon SE	26633545	2016
24	Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. ⁶	Tiwari A...Berger W	27353947	2016
25	Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. ⁶	Pierrache LH...Klaver CC	26927203	2016
26	Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. ⁶	Sloan-Heggen CM...Smith RJH	26969326	2016
27	Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. ⁶	Bravo-Gil N...Antinolo G	27032803	2016
28	Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity. ⁶	Tajiguli A...Aisa HA	26856745	2016
29	Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. ⁶	Abdi S...Petit C	27583663	2016
30	Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. ⁶	de Castro-Miro M...Gonzalez-Duarte R	28005958	2016
31	NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. ⁶	Ge Z...Chen R	26667666	2015
32	Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. ⁶	Zheng SL...Kang QY	26310143	2015
33	A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. ⁶	Lenassi E...Webster AR	25649381	2015
34	Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. ⁶	Jiang L...Sui R	26338283	2015
35	Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. ⁶	Beryozkin A...Sharon D	26306921	2015
36	High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. ⁶	Lee K...Garg S	25910913	2015
37	Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. ⁶	Pozo MG...Antinolo G	25823529	2015
38	Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations. ⁶	Gu X...Li H	24853665	2015
39	DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. ⁶	Tang HY...Alford RL	25991456	2015
40	Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. ⁶	Huang XF...Jin ZB	25356976	2015
41	Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. ⁶	Consugar MB...Pierce EA	25412400	2015
42	Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology. ⁶	Qu LH...Yin ZQ	25252889	2015
43	Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. ⁶	Lenarduzzi S...Girotto G	25575603	2015
44	Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. ⁶	Zhao L...Chen R	25472526	2015
45	Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. ⁶	Sharon D...Banin E	26261414	2015
46	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁶	Xiong HY...Frey BJ	25525159	2015
47	Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing. ⁶	Yang L...Ma Z	26496393	2015
48	The usefulness of whole-exome sequencing in routine clinical practice. ⁶	Iglesias A...Chung WK	24901346	2014
49	Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. ⁶	Zein WM...Sieving PA	25425308	2014
50	Targeted next generation sequencing for molecular diagnosis of Usher syndrome. ⁶	Aparisi MJ...Millan JM	25404053	2014

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Genes for Retinitis Pigmentosa 39

Genes related to Retinitis Pigmentosa 39 (3 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	USH2A	Usherin	Protein Coding	1351.14	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	17296898 23591405 24265693
2	USH2A-AS1	USH2A Antisense RNA 1	RNA Gene	433.97	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	15823922 25525159 24944099
3	USH2A-AS2	USH2A Antisense RNA 2	RNA Gene	433.78	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	24938718
4	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	5.73	DISEASES inferred ¹⁵
5	RGS9BP	Regulator Of G Protein Signaling 9 Binding Protein	Protein Coding	5.21	DISEASES inferred ¹⁵
6	RAB28	RAB28, Member RAS Oncogene Family	Protein Coding	5.2	DISEASES inferred ¹⁵
7	CABP4	Calcium Binding Protein 4	Protein Coding	5.16	DISEASES inferred ¹⁵
8	PDE6G	Phosphodiesterase 6G	Protein Coding	5.11	DISEASES inferred ¹⁵
9	RAB8B	RAB8B, Member RAS Oncogene Family	Protein Coding	5.01	DISEASES inferred ¹⁵
10	PLAC8	Placenta Associated 8	Protein Coding	4.91	DISEASES inferred ¹⁵
11	CACNA2D4	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 4	Protein Coding	4.9	DISEASES inferred ¹⁵
12	CNGA1	Cyclic Nucleotide Gated Channel Subunit Alpha 1	Protein Coding	4.87	DISEASES inferred ¹⁵
13	PER1	Period Circadian Regulator 1	Protein Coding	4.84	DISEASES inferred ¹⁵
14	PDE6A	Phosphodiesterase 6A	Protein Coding	4.83	DISEASES inferred ¹⁵
15	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	4.8	DISEASES inferred ¹⁵
16	GRK7	G Protein-Coupled Receptor Kinase 7	Protein Coding	4.79	DISEASES inferred ¹⁵

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Variations for Retinitis Pigmentosa 39

ClinVar genetic disease variations for Retinitis Pigmentosa 39:

⁶ (show top 50) (show all 566)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	USH2A	NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs)	Insertion	Pathogenic	2360	rs587776538	GRCh37: 1:216595438-216595439 GRCh38: 1:216422096-216422097
2	USH2A	NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)	SNV	Pathogenic	2361	rs111033334	GRCh37: 1:216420527-216420527 GRCh38: 1:216247185-216247185
3	USH2A	NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly)	SNV	Pathogenic	2362	rs80338904	GRCh37: 1:215844427-215844427 GRCh38: 1:215671085-215671085
4	USH2A	NM_206933.4(USH2A):c.13130C>A (p.Ser4377Ter)	SNV	Pathogenic	48412	rs111033385	GRCh37: 1:215848123-215848123 GRCh38: 1:215674781-215674781
5	USH2A	NM_206933.3(USH2A):c.10388-1G>C	SNV	Pathogenic	522485	rs1553261478	GRCh37: 1:215956278-215956278 GRCh38: 1:215782936-215782936
6	USH2A	NM_007123.5(USH2A):c.667dup (p.Ile223fs)	Duplication	Pathogenic	522527	rs1553253747	GRCh37: 1:216538411-216538412 GRCh38: 1:216365069-216365070
7	USH2A	NM_206933.3(USH2A):c.1214del (p.Asn405fs)	Deletion	Pathogenic	189250	rs750228923	GRCh37: 1:216497624-216497624 GRCh38: 1:216324282-216324282
8	USH2A	NM_206933.4(USH2A):c.9570+1G>A	SNV	Pathogenic	228418	rs760225886	GRCh37: 1:215990338-215990338 GRCh38: 1:215816996-215816996
9	USH2A	NM_206933.4(USH2A):c.8559-2A>G	SNV	Pathogenic	48604	rs397518039	GRCh37: 1:216051224-216051224 GRCh38: 1:215877882-215877882
10	USH2A	NM_206933.3(USH2A):c.236_239dup (p.Gln81fs)	Duplication	Pathogenic	552849	rs1553258097	GRCh37: 1:216595439-216595440 GRCh38: 1:216422097-216422098
11	USH2A	NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs)	Microsatellite	Pathogenic	553452	rs1188025733	GRCh37: 1:216498937-216498938 GRCh38: 1:216325595-216325596
12	USH2A	NM_206933.3(USH2A):c.7595-3C>G	SNV	Pathogenic	197447	rs201657446	GRCh37: 1:216062399-216062399 GRCh38: 1:215889057-215889057
13	USH2A-AS1 , USH2A	NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter)	SNV	Pathogenic	553983	rs756623509	GRCh37: 1:216371818-216371818 GRCh38: 1:216198476-216198476
14	USH2A	NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter)	SNV	Pathogenic	553648	rs1553273330	GRCh37: 1:216061912-216061912 GRCh38: 1:215888570-215888570
15	USH2A	NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter)	SNV	Pathogenic	553620	rs1394737087	GRCh37: 1:216419939-216419939 GRCh38: 1:216246597-216246597
16	USH2A	NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter)	SNV	Pathogenic	553607	rs868562952	GRCh37: 1:216424389-216424389 GRCh38: 1:216251047-216251047
17	USH2A	NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter)	SNV	Pathogenic	554236	rs747063294	GRCh37: 1:215844316-215844316 GRCh38: 1:215670974-215670974
18	USH2A-AS1 , USH2A	NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)	SNV	Pathogenic	48499	rs397518011	GRCh37: 1:216380622-216380622 GRCh38: 1:216207280-216207280
19	USH2A	NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)	SNV	Pathogenic	48595	rs397518036	GRCh37: 1:216500961-216500961 GRCh38: 1:216327619-216327619
20	USH2A	NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter)	SNV	Pathogenic	438008	rs1362058696	GRCh37: 1:215848434-215848434 GRCh38: 1:215675092-215675092
21	USH2A	NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)	SNV	Pathogenic	48408	rs397517983	GRCh37: 1:215848385-215848385 GRCh38: 1:215675043-215675043
22	USH2A	NM_206933.3(USH2A):c.11047+1G>A	SNV	Pathogenic	501315	rs201730567	GRCh37: 1:215940022-215940022 GRCh38: 1:215766680-215766680
23	USH2A	NM_206933.3(USH2A):c.9571-2A>G	SNV	Pathogenic	438033	rs751111524	GRCh37: 1:215987248-215987248 GRCh38: 1:215813906-215813906
24	USH2A	NM_206933.3(USH2A):c.11411del (p.Pro3804fs)	Deletion	Pathogenic	48375	rs397517973	GRCh37: 1:215916656-215916656 GRCh38: 1:215743314-215743314
25	USH2A	NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter)	SNV	Pathogenic	555195	rs765476745	GRCh37: 1:215847632-215847632 GRCh38: 1:215674290-215674290
26	USH2A	NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs)	Deletion	Pathogenic	555201	rs747160949	GRCh37: 1:215812571-215812572 GRCh38: 1:215639229-215639230
27	USH2A	NM_206933.3(USH2A):c.13700del (p.Leu4567fs)	Deletion	Pathogenic	555701	rs1212608410	GRCh37: 1:215847553-215847553 GRCh38: 1:215674211-215674211
28	USH2A-AS1 , USH2A	NM_007123.5(USH2A):c.2898del (p.Thr967fs)	Deletion	Pathogenic	2352	rs397518008	GRCh37: 1:216405390-216405390 GRCh38: 1:216232048-216232048
29	USH2A	NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter)	SNV	Pathogenic	555916	rs772100045	GRCh37: 1:215990440-215990440 GRCh38: 1:215817098-215817098
30	USH2A	NM_206933.3(USH2A):c.187C>T (p.Arg63Ter)	SNV	Pathogenic	556744	rs781223647	GRCh37: 1:216595492-216595492 GRCh38: 1:216422150-216422150
31	USH2A-AS1 , USH2A	NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter)	SNV	Pathogenic	556829	rs764797292	GRCh37: 1:216371855-216371855 GRCh38: 1:216198513-216198513
32	USH2A	NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter)	SNV	Pathogenic	555751	rs749452910	GRCh37: 1:216052107-216052107 GRCh38: 1:215878765-215878765
33	USH2A	NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)	SNV	Pathogenic	438000	rs772808534	GRCh37: 1:216595579-216595579 GRCh38: 1:216422237-216422237
34	USH2A	NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter)	SNV	Pathogenic	557167	rs767078782	GRCh37: 1:216420126-216420126 GRCh38: 1:216246784-216246784
35	USH2A	NM_206933.3(USH2A):c.10388-1G>A	SNV	Pathogenic	557493	rs1553261478	GRCh37: 1:215956278-215956278 GRCh38: 1:215782936-215782936
36	USH2A	NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter)	SNV	Pathogenic	557745	rs367674026	GRCh37: 1:215844625-215844625 GRCh38: 1:215671283-215671283
37	USH2A	NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter)	SNV	Pathogenic	557801	rs760302201	GRCh37: 1:216040360-216040360 GRCh38: 1:215867018-215867018
38	USH2A	NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs)	Deletion	Pathogenic	558124	rs746447649	GRCh37: 1:215848045-215848046 GRCh38: 1:215674703-215674704
39	USH2A	NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)	SNV	Pathogenic	48628	rs73090721	GRCh37: 1:215990450-215990450 GRCh38: 1:215817108-215817108
40	USH2A-AS2 , USH2A	NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu)	SNV	Pathogenic	265979	rs886039867	GRCh37: 1:216251487-216251487 GRCh38: 1:216078145-216078145
41	USH2A and overlap with 1 gene(s)	NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)del	Deletion	Pathogenic	565300		GRCh37: 1:216251705-216270424 GRCh38: 1:216078363-216097082
42	USH2A	NM_206933.3(USH2A):c.11549-1G>A	SNV	Pathogenic	236536	rs878853407	GRCh37: 1:215914880-215914880 GRCh38: 1:215741538-215741538
43	USH2A	NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter)	SNV	Pathogenic	620588	rs1558146243	GRCh37: 1:216061902-216061902 GRCh38: 1:215888560-215888560
44	USH2A	NM_206933.3(USH2A):c.6926G>T (p.Cys2309Phe)	SNV	Pathogenic	560524	rs748983904	GRCh37: 1:216143998-216143998 GRCh38: 1:215970656-215970656
45	USH2A	NM_206933.4(USH2A):c.8559-2A>G	SNV	Pathogenic	48604	rs397518039	GRCh37: 1:216051224-216051224 GRCh38: 1:215877882-215877882
46	USH2A	NM_206933.4(USH2A):c.409dup (p.Ser137fs)	Duplication	Pathogenic	829992	rs1571805164	GRCh37: 1:216595269-216595270 GRCh38: 1:216421927-216421928
47	USH2A	NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg)	SNV	Pathogenic	48634	rs111033263	GRCh37: 1:215972408-215972408 GRCh38: 1:215799066-215799066
48	USH2A	NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)	SNV	Pathogenic	48449	rs397517994	GRCh37: 1:215813957-215813957 GRCh38: 1:215640615-215640615
49	USH2A	NM_206933.4(USH2A):c.10759C>T (p.Gln3587Ter)	SNV	Pathogenic	48357	rs111033418	GRCh37: 1:215953365-215953365 GRCh38: 1:215780023-215780023
50	USH2A-AS1 , USH2A	NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter)	SNV	Pathogenic	438021	rs746551311	GRCh37: 1:216369924-216369924 GRCh38: 1:216196582-216196582

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 39:

⁷² (show all 12)

#	Symbol	AA change	Variation ID	SNP ID
1	USH2A	p.Cys419Phe	VAR_025767	rs121912600
2	USH2A	p.Cys759Phe	VAR_025775	rs80338902
3	USH2A	p.Arg4115Cys	VAR_025780	rs111033275
4	USH2A	p.Thr4425Met	VAR_025781	rs201238640
5	USH2A	p.Arg4674Gly	VAR_038369	rs80338904
6	USH2A	p.Phe1859Cys	VAR_068354
7	USH2A	p.Arg2460His	VAR_068355	rs368681648
8	USH2A	p.Cys3358Tyr	VAR_068356	rs148660051
9	USH2A	p.Ser3669Arg	VAR_068357
10	USH2A	p.Cys934Trp	VAR_072000	rs201527662
11	USH2A	p.Phe1442Ser	VAR_072002	rs766108245
12	USH2A	p.Leu5063Arg	VAR_072063

Sources

Expression for Retinitis Pigmentosa 39

Search GEO for disease gene expression data for Retinitis Pigmentosa 39.

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Pathways for Retinitis Pigmentosa 39

Pathways related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	11.88	RGS9BP PDE6G PDE6A GRK7 CNGA1
2	Visual Cycle in Retinal Rods ⁶³	11.33	PDE6G PDE6A GNAT2 CNGA1 CABP4
3	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.3	RGS9BP PDE6G PDE6A GRK7 GNAT2 CNGA1

Sources

GO Terms for Retinitis Pigmentosa 39

Cellular components related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body	GO:0036064	9.43	USH2A RPGR RAB28
2	photoreceptor disc membrane	GO:0097381	9.33	PDE6G PDE6A GRK7
3	photoreceptor outer segment	GO:0001750	9.26	RPGR RGS9BP GNAT2 CNGA1
4	photoreceptor outer segment membrane	GO:0042622	8.92	PDE6G PDE6A GNAT2 CNGA1

Biological processes related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.56	USH2A RPGR RGS9BP PDE6G PDE6A GRK7
2	Wnt signaling pathway, calcium modulating pathway	GO:0007223	9.54	PDE6G PDE6A GNAT2
3	detection of light stimulus involved in visual perception	GO:0050908	9.5	RGS9BP GNAT2 CACNA2D4
4	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.46	PDE6G PDE6A GRK7 CNGA1
5	phototransduction	GO:0007602	9.43	GNAT2 CABP4
6	rhodopsin mediated signaling pathway	GO:0016056	9.43	PDE6G PDE6A CNGA1
7	retinal cone cell development	GO:0046549	9.4	GNAT2 CABP4
8	visual perception	GO:0007601	9.28	USH2A RPGR RGS9BP PDE6G PDE6A GRK7

Molecular functions related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	3',5'-cyclic-nucleotide phosphodiesterase activity	GO:0004114	9.16	PDE6G PDE6A
2	cGMP binding	GO:0030553	8.96	PDE6G CNGA1
3	3',5'-cyclic-GMP phosphodiesterase activity	GO:0047555	8.62	PDE6G PDE6A

Sources

Sources for Retinitis Pigmentosa 39

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Retinitis Pigmentosa 39 (RP39)

Aliases & Classifications for Retinitis Pigmentosa 39

MalaCards integrated aliases for Retinitis Pigmentosa 39:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 39

Related Diseases for Retinitis Pigmentosa 39

Diseases in the Retinitis Pigmentosa family:

Diseases related to Retinitis Pigmentosa 39 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 39:

Symptoms & Phenotypes for Retinitis Pigmentosa 39

Human phenotypes related to Retinitis Pigmentosa 39:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Retinitis Pigmentosa 39:

Drugs & Therapeutics for Retinitis Pigmentosa 39

Genetic Tests for Retinitis Pigmentosa 39

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Anatomical Context for Retinitis Pigmentosa 39

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Genes related to Retinitis Pigmentosa 39 (3 elite genes):

Variations for Retinitis Pigmentosa 39

ClinVar genetic disease variations for Retinitis Pigmentosa 39:

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 39:

Expression for Retinitis Pigmentosa 39

Pathways for Retinitis Pigmentosa 39

Pathways related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

GO Terms for Retinitis Pigmentosa 39

Cellular components related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

Biological processes related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

Molecular functions related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

Sources for Retinitis Pigmentosa 39