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

MCID: RTN141 MIFTS: 23	Retinitis Pigmentosa 39 Categories: Genetic diseases, Eye diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download 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 ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Rp39 ⁵⁷ ¹² ⁷⁵

Retinitis Pigmentosa, Type 39 ⁴⁰

Characteristics:

HPO:

³²

retinitis pigmentosa 39:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

OMIM ⁵⁷ 613809

Disease Ontology ¹² DOID:0110360

ICD10 ³³ H35.5

MedGen ⁴² C3151138

MeSH ⁴⁴ D012174

SNOMED-CT via HPO ⁶⁹ 258211005 246635007 397540003 more

UMLS ⁷³ C3151138

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Summaries for Retinitis Pigmentosa 39

UniProtKB/Swiss-Prot : ⁷⁵ 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. An important gene associated with Retinitis Pigmentosa 39 is USH2A (Usherin). Affiliated tissues include retina, bone and eye, and related phenotypes are visual impairment and rod-cone dystrophy

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

Description from OMIM: 613809

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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	Nonsyndromic Retinitis Pigmentosa

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

#	Related Disease	Score	Top Affiliating Genes
1	retinitis pigmentosa	9.0	LOC105372918 USH2A

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Symptoms & Phenotypes for Retinitis Pigmentosa 39

Clinical features from OMIM:

613809

Human phenotypes related to Retinitis Pigmentosa 39:

³² (show all 6)

#	Description	HPO Source Accession
1	visual impairment ³²	HP:0000505
2	rod-cone dystrophy ³²	HP:0000510
3	abnormal electroretinogram ³²	HP:0000512
4	visual field defect ³²	HP:0001123
5	bone spicule pigmentation of the retina ³²	HP:0007737
6	attenuation of retinal blood vessels ³²	HP:0007843

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Drugs & Therapeutics for Retinitis Pigmentosa 39

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rate of Progression in USH2A Related Retinal Degeneration	Recruiting	NCT03146078

Search 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:

⁴¹

Retina, Bone, Eye

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Publications for Retinitis Pigmentosa 39

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Genes for Retinitis Pigmentosa 39

Genes related to Retinitis Pigmentosa 39 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	USH2A	Usherin	Protein Coding	1354.67	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	12525556 25823529 10775529 (more) 12427073 20301590 17296898
2	LOC105372918	Uncharacterized LOC105372918	RNA Gene	8.12	GeneCards inferred via : Variants (show sections)

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Variations for Retinitis Pigmentosa 39

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

⁷⁵ (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

ClinVar genetic disease variations for Retinitis Pigmentosa 39:

⁶

(show top 50) (show all 64)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	USH2A	NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)	deletion	Pathogenic/Likely pathogenic	rs80338903	GRCh37	Chromosome 1, 216420437: 216420437
2	USH2A	NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)	deletion	Pathogenic/Likely pathogenic	rs80338903	GRCh38	Chromosome 1, 216247095: 216247095
3	USH2A	NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter)	single nucleotide variant	Pathogenic	rs111033364	GRCh37	Chromosome 1, 215901574: 215901574
4	USH2A	NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter)	single nucleotide variant	Pathogenic	rs111033364	GRCh38	Chromosome 1, 215728232: 215728232
5	USH2A	NM_206933.2(USH2A): c.949C> A (p.Arg317=)	single nucleotide variant	Pathogenic	rs111033272	GRCh37	Chromosome 1, 216498841: 216498841
6	USH2A	NM_206933.2(USH2A): c.949C> A (p.Arg317=)	single nucleotide variant	Pathogenic	rs111033272	GRCh38	Chromosome 1, 216325499: 216325499
7	USH2A	NM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs)	insertion	Pathogenic	rs587776538	GRCh37	Chromosome 1, 216595438: 216595439
8	USH2A	NM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs)	insertion	Pathogenic	rs587776538	GRCh38	Chromosome 1, 216422096: 216422097
9	USH2A	NM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)	single nucleotide variant	Pathogenic	rs111033334	GRCh37	Chromosome 1, 216420527: 216420527
10	USH2A	NM_206933.2(USH2A): c.2209C> T (p.Arg737Ter)	single nucleotide variant	Pathogenic	rs111033334	GRCh38	Chromosome 1, 216247185: 216247185
11	USH2A	NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)	single nucleotide variant	Pathogenic	rs80338904	GRCh37	Chromosome 1, 215844427: 215844427
12	USH2A	NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)	single nucleotide variant	Pathogenic	rs80338904	GRCh38	Chromosome 1, 215671085: 215671085
13	USH2A	NM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)	deletion	Pathogenic	rs397517964	GRCh37	Chromosome 1, 215960208: 215960209
14	USH2A	NM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs)	deletion	Pathogenic	rs397517964	GRCh38	Chromosome 1, 215786866: 215786867
15	USH2A	NM_206933.2(USH2A): c.1036A> C (p.Asn346His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs369522997	GRCh37	Chromosome 1, 216498754: 216498754
16	USH2A	NM_206933.2(USH2A): c.1036A> C (p.Asn346His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs369522997	GRCh38	Chromosome 1, 216325412: 216325412
17	USH2A	NM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111033385	GRCh37	Chromosome 1, 215848123: 215848123
18	USH2A	NM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs111033385	GRCh38	Chromosome 1, 215674781: 215674781
19	USH2A	NM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)	deletion	Pathogenic/Likely pathogenic	rs397518014	GRCh37	Chromosome 1, 216373222: 216373222
20	USH2A	NM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs)	deletion	Pathogenic/Likely pathogenic	rs397518014	GRCh38	Chromosome 1, 216199880: 216199880
21	USH2A	NM_206933.2(USH2A): c.8559-2A> G	single nucleotide variant	Pathogenic	rs397518039	GRCh37	Chromosome 1, 216051224: 216051224
22	USH2A	NM_206933.2(USH2A): c.8559-2A> G	single nucleotide variant	Pathogenic	rs397518039	GRCh38	Chromosome 1, 215877882: 215877882
23	USH2A	NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs)	duplication	Pathogenic	rs397518043	GRCh37	Chromosome 1, 216498867: 216498870
24	USH2A	NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs)	duplication	Pathogenic	rs397518043	GRCh38	Chromosome 1, 216325525: 216325528
25	USH2A	NM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201527662	GRCh37	Chromosome 1, 216419934: 216419934
26	USH2A	NM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201527662	GRCh38	Chromosome 1, 216246592: 216246592
27	USH2A	NM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter)	single nucleotide variant	Pathogenic	rs146733615	GRCh37	Chromosome 1, 215814065: 215814065
28	USH2A	NM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter)	single nucleotide variant	Pathogenic	rs146733615	GRCh38	Chromosome 1, 215640723: 215640723
29	USH2A	NM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs)	deletion	Pathogenic/Likely pathogenic	rs727505343	GRCh37	Chromosome 1, 216243615: 216243615
30	USH2A	NM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs)	deletion	Pathogenic/Likely pathogenic	rs727505343	GRCh38	Chromosome 1, 216070273: 216070273
31	USH2A	NM_206933.2(USH2A): c.12575G> A (p.Arg4192His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199605265	GRCh37	Chromosome 1, 215848678: 215848678
32	USH2A	NM_206933.2(USH2A): c.12575G> A (p.Arg4192His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199605265	GRCh38	Chromosome 1, 215675336: 215675336
33	USH2A	NM_206933.2(USH2A): c.8682-9A> G	single nucleotide variant	Likely pathogenic	rs372347027	GRCh37	Chromosome 1, 216040521: 216040521
34	USH2A	NM_206933.2(USH2A): c.8682-9A> G	single nucleotide variant	Likely pathogenic	rs372347027	GRCh38	Chromosome 1, 215867179: 215867179
35	USH2A	NM_206933.2(USH2A): c.10073G> A (p.Cys3358Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs148660051	GRCh37	Chromosome 1, 215963510: 215963510
36	USH2A	NM_206933.2(USH2A): c.10073G> A (p.Cys3358Tyr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs148660051	GRCh38	Chromosome 1, 215790168: 215790168
37	USH2A	NM_206933.2(USH2A): c.11875_11876delCA (p.Gln3959Asnfs)	deletion	Pathogenic	rs779791079	GRCh37	Chromosome 1, 215901562: 215901563
38	USH2A	NM_206933.2(USH2A): c.11875_11876delCA (p.Gln3959Asnfs)	deletion	Pathogenic	rs779791079	GRCh38	Chromosome 1, 215728220: 215728221
39	USH2A	NM_206933.2(USH2A): c.10342G> A (p.Glu3448Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs368049814	GRCh37	Chromosome 1, 215960057: 215960057
40	USH2A	NM_206933.2(USH2A): c.10342G> A (p.Glu3448Lys)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs368049814	GRCh38	Chromosome 1, 215786715: 215786715
41	USH2A	NM_206933.2(USH2A): c.6670G> T (p.Gly2224Cys)	single nucleotide variant	Uncertain significance	rs149553844	GRCh37	Chromosome 1, 216166497: 216166497
42	USH2A	NM_206933.2(USH2A): c.6670G> T (p.Gly2224Cys)	single nucleotide variant	Uncertain significance	rs149553844	GRCh38	Chromosome 1, 215993155: 215993155
43	USH2A	NM_206933.2(USH2A): c.3187_3188delCA (p.Gln1063Serfs)	deletion	Pathogenic	rs886039450	GRCh37	Chromosome 1, 216380743: 216380744
44	USH2A	NM_206933.2(USH2A): c.3187_3188delCA (p.Gln1063Serfs)	deletion	Pathogenic	rs886039450	GRCh38	Chromosome 1, 216207401: 216207402
45	USH2A	NM_206933.2(USH2A): c.15520-1G> A	single nucleotide variant	Likely pathogenic	rs767265734	GRCh37	Chromosome 1, 215799213: 215799213
46	USH2A	NM_206933.2(USH2A): c.15520-1G> A	single nucleotide variant	Likely pathogenic	rs767265734	GRCh38	Chromosome 1, 215625871: 215625871
47	USH2A	NM_206933.2(USH2A): c.13257_13263delCTCCCTT (p.Phe4419Leufs)	deletion	Likely pathogenic	rs1057517533	GRCh37	Chromosome 1, 215847990: 215847996
48	USH2A	NM_206933.2(USH2A): c.13257_13263delCTCCCTT (p.Phe4419Leufs)	deletion	Likely pathogenic	rs1057517533	GRCh38	Chromosome 1, 215674648: 215674654
49	USH2A	NM_206933.2(USH2A): c.9345_9346delAC (p.Pro3116Hisfs)	deletion	Likely pathogenic	rs536593247	GRCh37	Chromosome 1, 216011358: 216011359
50	USH2A	NM_206933.2(USH2A): c.9345_9346delAC (p.Pro3116Hisfs)	deletion	Likely pathogenic	rs536593247	GRCh38	Chromosome 1, 215838016: 215838017

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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

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GO Terms for Retinitis Pigmentosa 39

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Sources for Retinitis Pigmentosa 39

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