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
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

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 1042)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.14276G> A (p.Gly4759Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112459877 GRCh37 Chromosome 1, 215824001: 215824001
2 USH2A NM_206933.2(USH2A): c.14276G> A (p.Gly4759Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112459877 GRCh38 Chromosome 1, 215650659: 215650659
3 USH2A NM_206933.2(USH2A): c.14108T> C (p.Leu4703Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs369513607 GRCh37 Chromosome 1, 215844339: 215844339
4 USH2A NM_206933.2(USH2A): c.14108T> C (p.Leu4703Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs369513607 GRCh38 Chromosome 1, 215670997: 215670997
5 USH2A NM_206933.2(USH2A): c.13808A> C (p.His4603Pro) single nucleotide variant Uncertain significance rs727504551 GRCh38 Chromosome 1, 215674103: 215674103
6 USH2A NM_206933.2(USH2A): c.13808A> C (p.His4603Pro) single nucleotide variant Uncertain significance rs727504551 GRCh37 Chromosome 1, 215847445: 215847445
7 USH2A NM_206933.2(USH2A): c.6141G> A (p.Leu2047=) single nucleotide variant Likely benign rs727505165 GRCh37 Chromosome 1, 216221898: 216221898
8 USH2A NM_206933.2(USH2A): c.6141G> A (p.Leu2047=) single nucleotide variant Likely benign rs727505165 GRCh38 Chromosome 1, 216048556: 216048556
9 USH2A NM_206933.2(USH2A): c.5858-12A> G single nucleotide variant Conflicting interpretations of pathogenicity rs727503727 GRCh37 Chromosome 1, 216243646: 216243646
10 USH2A NM_206933.2(USH2A): c.5858-12A> G single nucleotide variant Conflicting interpretations of pathogenicity rs727503727 GRCh38 Chromosome 1, 216070304: 216070304
11 USH2A NM_206933.2(USH2A): c.5752G> A (p.Glu1918Lys) single nucleotide variant Uncertain significance rs529355834 GRCh38 Chromosome 1, 216073121: 216073121
12 USH2A NM_206933.2(USH2A): c.5752G> A (p.Glu1918Lys) single nucleotide variant Uncertain significance rs529355834 GRCh37 Chromosome 1, 216246463: 216246463
13 USH2A NM_206933.2(USH2A): c.15581G> A (p.Arg5194His) single nucleotide variant Conflicting interpretations of pathogenicity rs727505155 GRCh37 Chromosome 1, 215799151: 215799151
14 USH2A NM_206933.2(USH2A): c.15581G> A (p.Arg5194His) single nucleotide variant Conflicting interpretations of pathogenicity rs727505155 GRCh38 Chromosome 1, 215625809: 215625809
15 USH2A NM_206933.2(USH2A): c.15281C> T (p.Pro5094Leu) single nucleotide variant Uncertain significance rs727503714 GRCh37 Chromosome 1, 215807817: 215807817
16 USH2A NM_206933.2(USH2A): c.15281C> T (p.Pro5094Leu) single nucleotide variant Uncertain significance rs727503714 GRCh38 Chromosome 1, 215634475: 215634475
17 USH2A NM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter) single nucleotide variant Pathogenic rs146733615 GRCh37 Chromosome 1, 215814065: 215814065
18 USH2A NM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter) single nucleotide variant Pathogenic rs146733615 GRCh38 Chromosome 1, 215640723: 215640723
19 USH2A NM_206933.2(USH2A): c.13374delA (p.Glu4458Aspfs) deletion Pathogenic rs727503715 GRCh37 Chromosome 1, 215847879: 215847879
20 USH2A NM_206933.2(USH2A): c.13374delA (p.Glu4458Aspfs) deletion Pathogenic rs727503715 GRCh38 Chromosome 1, 215674537: 215674537
21 USH2A NM_206933.2(USH2A): c.12877G> A (p.Gly4293Ser) single nucleotide variant Uncertain significance rs727505117 GRCh38 Chromosome 1, 215675034: 215675034
22 USH2A NM_206933.2(USH2A): c.12877G> A (p.Gly4293Ser) single nucleotide variant Uncertain significance rs727505117 GRCh37 Chromosome 1, 215848376: 215848376
23 USH2A NM_206933.2(USH2A): c.6233C> G (p.Pro2078Arg) single nucleotide variant Uncertain significance rs150230450 GRCh37 Chromosome 1, 216219865: 216219865
24 USH2A NM_206933.2(USH2A): c.6233C> G (p.Pro2078Arg) single nucleotide variant Uncertain significance rs150230450 GRCh38 Chromosome 1, 216046523: 216046523
25 USH2A NM_206933.2(USH2A): c.6087A> T (p.Ala2029=) single nucleotide variant Likely benign rs727503726 GRCh37 Chromosome 1, 216221952: 216221952
26 USH2A NM_206933.2(USH2A): c.6087A> T (p.Ala2029=) single nucleotide variant Likely benign rs727503726 GRCh38 Chromosome 1, 216048610: 216048610
27 USH2A NM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs) deletion Pathogenic/Likely pathogenic rs727505343 GRCh37 Chromosome 1, 216243615: 216243615
28 USH2A NM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs) deletion Pathogenic/Likely pathogenic rs727505343 GRCh38 Chromosome 1, 216070273: 216070273
29 USH2A NM_206933.2(USH2A): c.5844T> C (p.Arg1948=) single nucleotide variant Likely benign rs147930567 GRCh37 Chromosome 1, 216246244: 216246244
30 USH2A NM_206933.2(USH2A): c.5844T> C (p.Arg1948=) single nucleotide variant Likely benign rs147930567 GRCh38 Chromosome 1, 216072902: 216072902
31 USH2A NM_206933.2(USH2A): c.12505A> G (p.Thr4169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs113107803 GRCh37 Chromosome 1, 215848748: 215848748
32 USH2A NM_206933.2(USH2A): c.12505A> G (p.Thr4169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs113107803 GRCh38 Chromosome 1, 215675406: 215675406
33 USH2A NM_206933.2(USH2A): c.11956A> G (p.Thr3986Ala) single nucleotide variant Uncertain significance rs727505322 GRCh37 Chromosome 1, 215901482: 215901482
34 USH2A NM_206933.2(USH2A): c.11956A> G (p.Thr3986Ala) single nucleotide variant Uncertain significance rs727505322 GRCh38 Chromosome 1, 215728140: 215728140
35 USH2A NM_206933.2(USH2A): c.11815G> A (p.Glu3939Lys) single nucleotide variant Uncertain significance rs146264950 GRCh37 Chromosome 1, 215901623: 215901623
36 USH2A NM_206933.2(USH2A): c.11815G> A (p.Glu3939Lys) single nucleotide variant Uncertain significance rs146264950 GRCh38 Chromosome 1, 215728281: 215728281
37 USH2A NM_206933.2(USH2A): c.11693_11695delTCA (p.Ile3898del) deletion Uncertain significance rs727504714 GRCh38 Chromosome 1, 215741391: 215741393
38 USH2A NM_206933.2(USH2A): c.11693_11695delTCA (p.Ile3898del) deletion Uncertain significance rs727504714 GRCh37 Chromosome 1, 215914733: 215914735
39 USH2A NM_206933.2(USH2A): c.9842G> T (p.Cys3281Phe) single nucleotide variant Uncertain significance rs727504654 GRCh38 Chromosome 1, 215799023: 215799023
40 USH2A NM_206933.2(USH2A): c.9842G> T (p.Cys3281Phe) single nucleotide variant Uncertain significance rs727504654 GRCh37 Chromosome 1, 215972365: 215972365
41 USH2A NM_206933.2(USH2A): c.9307A> G (p.Ile3103Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143352618 GRCh37 Chromosome 1, 216011397: 216011397
42 USH2A NM_206933.2(USH2A): c.9307A> G (p.Ile3103Val) single nucleotide variant Conflicting interpretations of pathogenicity rs143352618 GRCh38 Chromosome 1, 215838055: 215838055
43 USH2A NM_206933.2(USH2A): c.8993C> G (p.Ser2998Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs559922535 GRCh37 Chromosome 1, 216019228: 216019228
44 USH2A NM_206933.2(USH2A): c.8993C> G (p.Ser2998Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs559922535 GRCh38 Chromosome 1, 215845886: 215845886
45 USH2A NM_206933.2(USH2A): c.8265T> C (p.Leu2755=) single nucleotide variant Likely benign rs727505274 GRCh37 Chromosome 1, 216052399: 216052399
46 USH2A NM_206933.2(USH2A): c.8265T> C (p.Leu2755=) single nucleotide variant Likely benign rs727505274 GRCh38 Chromosome 1, 215879057: 215879057
47 USH2A NM_206933.2(USH2A): c.3493G> C (p.Val1165Leu) single nucleotide variant Uncertain significance rs727503734 GRCh37 Chromosome 1, 216373287: 216373287
48 USH2A NM_206933.2(USH2A): c.3493G> C (p.Val1165Leu) single nucleotide variant Uncertain significance rs727503734 GRCh38 Chromosome 1, 216199945: 216199945
49 USH2A NM_206933.2(USH2A): c.1648G> C (p.Asp550His) single nucleotide variant Uncertain significance rs727504805 GRCh38 Chromosome 1, 216292367: 216292367
50 USH2A NM_206933.2(USH2A): c.1648G> C (p.Asp550His) single nucleotide variant Uncertain significance rs727504805 GRCh37 Chromosome 1, 216465709: 216465709

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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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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