MCID: RTN141
MIFTS: 21

Retinitis Pigmentosa 39

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 39

MalaCards integrated aliases for Retinitis Pigmentosa 39:

Name: Retinitis Pigmentosa 39 53 12 71 28 13 69
Rp39 53 12 71

Characteristics:

HPO:

31
retinitis pigmentosa 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613809
Disease Ontology 12 DOID:0110360
ICD10 32 H35.5
MedGen 39 C3151138
MeSH 41 D012174
UMLS 69 C3151138

Summaries for Retinitis Pigmentosa 39

UniProtKB/Swiss-Prot : 71 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, is also known as rp39, and has symptoms including visual impairment, abnormal electroretinogram and visual field defect. An important gene associated with Retinitis Pigmentosa 39 is USH2A (Usherin). Affiliated tissues include bone, eye and retina.

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 39

Clinical features from OMIM:

613809

Human phenotypes related to Retinitis Pigmentosa 39:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 abnormal electroretinogram 31 HP:0000512
3 visual field defect 31 HP:0001123
4 rod-cone dystrophy 31 HP:0000510
5 attenuation of retinal blood vessels 31 HP:0007843
6 bone spicule pigmentation of the retina 31 HP:0007737

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

Genetic Tests for Retinitis Pigmentosa 39

Genetic tests related to Retinitis Pigmentosa 39:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 39 28 USH2A

Anatomical Context for Retinitis Pigmentosa 39

MalaCards organs/tissues related to Retinitis Pigmentosa 39:

38
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 39

Variations for Retinitis Pigmentosa 39

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

71 (show all 11)
# 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.Ser3669Arg VAR_068357
9 USH2A p.Cys934Trp VAR_072000 rs201527662
10 USH2A p.Phe1442Ser VAR_072002 rs766108245
11 USH2A p.Leu5063Arg VAR_072063

ClinVar genetic disease variations for Retinitis Pigmentosa 39:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 USH2A NM_206933.2(USH2A): c.10190_10191delAA (p.Lys3397Argfs) deletion Pathogenic rs397517964 GRCh37 Chromosome 1, 215960208: 215960209
2 USH2A NM_206933.2(USH2A): c.1036A> C (p.Asn346His) single nucleotide variant Likely pathogenic rs369522997 GRCh37 Chromosome 1, 216498754: 216498754
3 USH2A NM_206933.2(USH2A): c.12067-2A> G single nucleotide variant Pathogenic rs397517978 GRCh37 Chromosome 1, 215853720: 215853720
4 USH2A NM_206933.2(USH2A): c.13130C> A (p.Ser4377Ter) single nucleotide variant Pathogenic/Likely pathogenic rs111033385 GRCh37 Chromosome 1, 215848123: 215848123
5 USH2A NM_206933.2(USH2A): c.14287G> A (p.Gly4763Arg) single nucleotide variant Likely pathogenic rs397517990 GRCh37 Chromosome 1, 215823990: 215823990
6 USH2A NM_206933.2(USH2A): c.3558delT (p.Cys1186Trpfs) deletion Pathogenic/Likely pathogenic rs397518014 GRCh37 Chromosome 1, 216373222: 216373222
7 USH2A NM_206933.2(USH2A): c.920_923dupGCCA (p.His308Glnfs) duplication Pathogenic rs397518043 GRCh37 Chromosome 1, 216498867: 216498870
8 USH2A NM_206933.2(USH2A): c.9424G> T (p.Gly3142Ter) single nucleotide variant Pathogenic rs397518048 GRCh37 Chromosome 1, 215990485: 215990485
9 USH2A NM_206933.2(USH2A): c.2802T> G (p.Cys934Trp) single nucleotide variant Pathogenic/Likely pathogenic rs201527662 GRCh37 Chromosome 1, 216419934: 216419934
10 USH2A NM_206933.2(USH2A): c.14803C> T (p.Arg4935Ter) single nucleotide variant Pathogenic rs146733615 GRCh37 Chromosome 1, 215814065: 215814065
11 USH2A NM_206933.2(USH2A): c.5877delT (p.Ser1961Glnfs) deletion Pathogenic/Likely pathogenic rs727505343 GRCh37 Chromosome 1, 216243615: 216243615
12 USH2A NM_206933.2(USH2A): c.8682-9A> G single nucleotide variant Likely pathogenic rs372347027 GRCh37 Chromosome 1, 216040521: 216040521
13 USH2A NM_206933.2(USH2A): c.10073G> A (p.Cys3358Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs148660051 GRCh37 Chromosome 1, 215963510: 215963510
14 USH2A NM_206933.2(USH2A): c.11875_11876delCA (p.Gln3959Asnfs) deletion Pathogenic rs779791079 GRCh37 Chromosome 1, 215901562: 215901563
15 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
16 USH2A NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter) single nucleotide variant Pathogenic rs111033364 GRCh37 Chromosome 1, 215901574: 215901574
17 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh37 Chromosome 1, 216498841: 216498841
18 USH2A NM_206933.2(USH2A): c.240_241insGATC (p.Gln81Aspfs) insertion Pathogenic rs587776538 GRCh37 Chromosome 1, 216595438: 216595439
19 USH2A NM_206933.2(USH2A): c.2209C> T (p.Arg737Ter) single nucleotide variant Pathogenic rs111033334 GRCh37 Chromosome 1, 216420527: 216420527
20 USH2A NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly) single nucleotide variant Pathogenic rs80338904 GRCh37 Chromosome 1, 215844427: 215844427
21 USH2A NM_206933.2(USH2A): c.3187_3188delCA (p.Gln1063Serfs) deletion Pathogenic rs886039450 GRCh37 Chromosome 1, 216380743: 216380744
22 USH2A NM_206933.2(USH2A): c.15520-1G> A single nucleotide variant Likely pathogenic rs767265734 GRCh37 Chromosome 1, 215799213: 215799213
23 USH2A NM_206933.2(USH2A): c.13257_13263delCTCCCTT (p.Phe4419Leufs) deletion Likely pathogenic rs1057517533 GRCh38 Chromosome 1, 215674648: 215674654
24 USH2A NM_206933.2(USH2A): c.9345_9346delAC (p.Pro3116Hisfs) deletion Likely pathogenic rs536593247 GRCh37 Chromosome 1, 216011358: 216011359

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....