RP39
MCID: RTN141
MIFTS: 24

Retinitis Pigmentosa 39 (RP39)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 39

MalaCards integrated aliases for Retinitis Pigmentosa 39:

Name: Retinitis Pigmentosa 39 58 12 76 30 13 6 74
Rp39 58 12 76
Retinitis Pigmentosa, Type 39 41

Characteristics:

HPO:

33
retinitis pigmentosa 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110360
OMIM 58 613809
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3151138
UMLS 74 C3151138

Summaries for Retinitis Pigmentosa 39

UniProtKB/Swiss-Prot : 76 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 bone, eye and retina, and related phenotypes are abnormal electroretinogram and visual field defect

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

Description from OMIM: 613809

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
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 9.1 LOC102723833 LOC105372918 USH2A

Symptoms & Phenotypes for Retinitis Pigmentosa 39

Human phenotypes related to Retinitis Pigmentosa 39:

33
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 33 HP:0000512
2 visual field defect 33 HP:0001123
3 rod-cone dystrophy 33 HP:0000510
4 attenuation of retinal blood vessels 33 HP:0007843
5 bone spicule pigmentation of the retina 33 HP:0007737

Clinical features from OMIM:

613809

Drugs & Therapeutics for Retinitis Pigmentosa 39

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rate of Progression in USH2A Related Retinal Degeneration Active, not recruiting NCT03146078

Search NIH Clinical Center for Retinitis Pigmentosa 39

Genetic Tests for Retinitis Pigmentosa 39

Genetic tests related to Retinitis Pigmentosa 39:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 39 30 USH2A

Anatomical Context for Retinitis Pigmentosa 39

MalaCards organs/tissues related to Retinitis Pigmentosa 39:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 39

Articles related to Retinitis Pigmentosa 39:

# Title Authors Year
1
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. ( 29912909 )
2018
2
Immunogenicity and protective efficacy of Brucella abortus recombinant protein cocktail (rOmp19+rP39) against B. abortus 544 and B. melitensis 16M infection in murine model. ( 26826463 )
2016
3
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. ( 25823529 )
2015
4
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. ( 25649381 )
2015
5
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. ( 17296898 )
2007
6
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. ( 12525556 )
2003
7
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. ( 12427073 )
2002
8
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. ( 10775529 )
2000

Variations for Retinitis Pigmentosa 39

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

76 (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 1056)
# 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.2898delG (p.Thr967Leufs) deletion Pathogenic rs397518008 GRCh37 Chromosome 1, 216405390: 216405390
4 USH2A NM_206933.2(USH2A): c.2898delG (p.Thr967Leufs) deletion Pathogenic rs397518008 GRCh38 Chromosome 1, 216232048: 216232048
5 USH2A NM_007123.5(USH2A): c.4338_4339delCT (p.Cys1447Glnfs) deletion Pathogenic rs111033367 GRCh37 Chromosome 1, 216363622: 216363623
6 USH2A NM_007123.5(USH2A): c.4338_4339delCT (p.Cys1447Glnfs) deletion Pathogenic rs111033367 GRCh38 Chromosome 1, 216190280: 216190281
7 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Pathogenic/Likely pathogenic rs80338902 GRCh37 Chromosome 1, 216420460: 216420460
8 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Pathogenic/Likely pathogenic rs80338902 GRCh38 Chromosome 1, 216247118: 216247118
9 USH2A NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter) single nucleotide variant Pathogenic rs111033364 GRCh37 Chromosome 1, 215901574: 215901574
10 USH2A NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter) single nucleotide variant Pathogenic rs111033364 GRCh38 Chromosome 1, 215728232: 215728232
11 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh37 Chromosome 1, 216498841: 216498841
12 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh38 Chromosome 1, 216325499: 216325499
13 USH2A NM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs) insertion Pathogenic rs587776538 GRCh37 Chromosome 1, 216595438: 216595439
14 USH2A NM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs) insertion Pathogenic rs587776538 GRCh38 Chromosome 1, 216422096: 216422097
15 USH2A NM_206933.2(USH2A): c.2209C> T (p.Arg737Ter) single nucleotide variant Pathogenic rs111033334 GRCh37 Chromosome 1, 216420527: 216420527
16 USH2A NM_206933.2(USH2A): c.2209C> T (p.Arg737Ter) single nucleotide variant Pathogenic rs111033334 GRCh38 Chromosome 1, 216247185: 216247185
17 USH2A NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly) single nucleotide variant Pathogenic rs80338904 GRCh37 Chromosome 1, 215844427: 215844427
18 USH2A NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly) single nucleotide variant Pathogenic rs80338904 GRCh38 Chromosome 1, 215671085: 215671085
19 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic rs786200928 GRCh37 Chromosome 1, 216064540: 216064540
20 USH2A NM_206933.2(USH2A): c.7595-2144A> G single nucleotide variant Pathogenic rs786200928 GRCh38 Chromosome 1, 215891198: 215891198
21 USH2A NM_206933.2(USH2A): c.11411delC (p.Pro3804Leufs) deletion Pathogenic rs397517973 GRCh37 Chromosome 1, 215916656: 215916656
22 USH2A NM_206933.2(USH2A): c.14911C> T (p.Arg4971Ter) single nucleotide variant Pathogenic rs397517994 GRCh37 Chromosome 1, 215813957: 215813957
23 USH2A NM_007123.5(USH2A): c.3547_3548delAT (p.Ile1183Phefs) deletion Conflicting interpretations of pathogenicity rs397518013 GRCh37 Chromosome 1, 216373232: 216373233
24 USH2A NM_206933.2(USH2A): c.1000C> G (p.Arg334Gly) single nucleotide variant Uncertain significance rs397517963 GRCh37 Chromosome 1, 216498790: 216498790
25 USH2A NM_206933.2(USH2A): c.1000C> G (p.Arg334Gly) single nucleotide variant Uncertain significance rs397517963 GRCh38 Chromosome 1, 216325448: 216325448
26 USH2A NM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs) deletion Pathogenic/Likely pathogenic rs397517964 GRCh37 Chromosome 1, 215960208: 215960209
27 USH2A NM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs) deletion Pathogenic/Likely pathogenic rs397517964 GRCh38 Chromosome 1, 215786866: 215786867
28 USH2A NM_206933.3(USH2A): c.1036A> C (p.Asn346His) single nucleotide variant Pathogenic rs369522997 GRCh37 Chromosome 1, 216498754: 216498754
29 USH2A NM_206933.3(USH2A): c.1036A> C (p.Asn346His) single nucleotide variant Pathogenic rs369522997 GRCh38 Chromosome 1, 216325412: 216325412
30 USH2A NM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033379 GRCh37 Chromosome 1, 215956215: 215956215
31 USH2A NM_206933.2(USH2A): c.10450C> T (p.Arg3484Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033379 GRCh38 Chromosome 1, 215782873: 215782873
32 USH2A NM_206933.2(USH2A): c.10517C> T (p.Thr3506Met) single nucleotide variant Conflicting interpretations of pathogenicity rs397517966 GRCh37 Chromosome 1, 215956148: 215956148
33 USH2A NM_206933.2(USH2A): c.10517C> T (p.Thr3506Met) single nucleotide variant Conflicting interpretations of pathogenicity rs397517966 GRCh38 Chromosome 1, 215782806: 215782806
34 USH2A NM_206933.2(USH2A): c.10524C> A (p.Thr3508=) single nucleotide variant Likely benign rs397517967 GRCh37 Chromosome 1, 215956141: 215956141
35 USH2A NM_206933.2(USH2A): c.10524C> A (p.Thr3508=) single nucleotide variant Likely benign rs397517967 GRCh38 Chromosome 1, 215782799: 215782799
36 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033264 GRCh37 Chromosome 1, 215956104: 215956104
37 USH2A NM_206933.2(USH2A): c.10561T> C (p.Trp3521Arg) single nucleotide variant Pathogenic/Likely pathogenic rs111033264 GRCh38 Chromosome 1, 215782762: 215782762
38 USH2A NM_206933.2(USH2A): c.10585G> A (p.Gly3529Ser) single nucleotide variant Uncertain significance rs111033439 GRCh37 Chromosome 1, 215956080: 215956080
39 USH2A NM_206933.2(USH2A): c.10585G> A (p.Gly3529Ser) single nucleotide variant Uncertain significance rs111033439 GRCh38 Chromosome 1, 215782738: 215782738
40 USH2A NM_206933.2(USH2A): c.10667G> A (p.Gly3556Glu) single nucleotide variant Uncertain significance rs397517968 GRCh37 Chromosome 1, 215955457: 215955457
41 USH2A NM_206933.2(USH2A): c.10667G> A (p.Gly3556Glu) single nucleotide variant Uncertain significance rs397517968 GRCh38 Chromosome 1, 215782115: 215782115
42 USH2A NM_206933.2(USH2A): c.10712C> T (p.Thr3571Met) single nucleotide variant Pathogenic/Likely pathogenic rs202175091 GRCh37 Chromosome 1, 215955412: 215955412
43 USH2A NM_206933.2(USH2A): c.10712C> T (p.Thr3571Met) single nucleotide variant Pathogenic/Likely pathogenic rs202175091 GRCh38 Chromosome 1, 215782070: 215782070
44 USH2A NM_206933.2(USH2A): c.10759C> T (p.Gln3587Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033418 GRCh37 Chromosome 1, 215953365: 215953365
45 USH2A NM_206933.2(USH2A): c.10759C> T (p.Gln3587Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033418 GRCh38 Chromosome 1, 215780023: 215780023
46 USH2A NM_206933.2(USH2A): c.10922G> A (p.Arg3641Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs397517969 GRCh37 Chromosome 1, 215953202: 215953202
47 USH2A NM_206933.2(USH2A): c.10922G> A (p.Arg3641Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs397517969 GRCh38 Chromosome 1, 215779860: 215779860
48 USH2A NM_206933.2(USH2A): c.10933G> A (p.Val3645Ile) single nucleotide variant Uncertain significance rs397517970 GRCh37 Chromosome 1, 215953191: 215953191
49 USH2A NM_206933.2(USH2A): c.10933G> A (p.Val3645Ile) single nucleotide variant Uncertain significance rs397517970 GRCh38 Chromosome 1, 215779849: 215779849
50 USH2A NM_206933.2(USH2A): c.11263G> C (p.Gly3755Arg) single nucleotide variant Uncertain significance rs397517971 GRCh37 Chromosome 1, 215932063: 215932063

Expression for Retinitis Pigmentosa 39

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

Pathways for Retinitis Pigmentosa 39

GO Terms for Retinitis Pigmentosa 39

Sources for Retinitis Pigmentosa 39

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