MCID: RTN141
MIFTS: 23

Retinitis Pigmentosa 39

Categories: Genetic diseases, Eye diseases, Rare diseases

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:



External Ids:

OMIM 57 613809
Disease Ontology 12 DOID:0110360
ICD10 33 H35.5
MedGen 42 C3151138
MeSH 44 D012174
UMLS 73 C3151138

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

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

Symptoms & Phenotypes for Retinitis Pigmentosa 39

Clinical features from OMIM:

613809

Human phenotypes related to Retinitis Pigmentosa 39:

32 (show all 6)
# Description HPO Frequency 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

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 29 USH2A

Anatomical Context for Retinitis Pigmentosa 39

MalaCards organs/tissues related to Retinitis Pigmentosa 39:

41
Retina, Bone, Eye

Publications for Retinitis Pigmentosa 39

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

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....