RP39
MCID: RTN141
MIFTS: 38

Retinitis Pigmentosa 39 (RP39)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 39

MalaCards integrated aliases for Retinitis Pigmentosa 39:

Name: Retinitis Pigmentosa 39 56 12 73 29 13 6 15 71
Rp39 56 12 73
Retinitis Pigmentosa, Type 39 39

Characteristics:

HPO:

31
retinitis pigmentosa 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110360
OMIM 56 613809
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3151138
UMLS 71 C3151138

Summaries for Retinitis Pigmentosa 39

UniProtKB/Swiss-Prot : 73 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 chronic pain and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Retinitis Pigmentosa 39 is USH2A (Usherin). Affiliated tissues include retina, eye and bone, and related phenotypes are abnormal electroretinogram and rod-cone dystrophy

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

More information from OMIM: 613809 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Nonsyndromic Retinitis Pigmentosa

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 chronic pain 10.2 USH2A-AS2 USH2A
2 yemenite deaf-blind hypopigmentation syndrome 10.1 USH2A RPGR
3 choroid disease 10.1 USH2A RPGR
4 late-onset retinal degeneration 10.0 USH2A RPGR
5 choroideremia 10.0 USH2A RPGR
6 rare genetic deafness 10.0 USH2A-AS2 USH2A-AS1 USH2A
7 retinitis pigmentosa 7 9.9 RPGR RGS9BP
8 schimmelpenning-feuerstein-mims syndrome 9.9 RGS9BP CMPK2
9 cone dystrophy 9.9 USH2A RPGR
10 usher syndrome type 2 9.9 USH2A-AS2 USH2A RPGR
11 enhanced s-cone syndrome 9.9 RPGR RGS9BP
12 retinitis pigmentosa 28 9.9 RPGR RAB28
13 senior-loken syndrome 1 9.8 USH2A RPGR
14 digenic disease 9.8 USH2A PDE6G
15 fundus albipunctatus 9.8 RPGR RGS9BP
16 retinitis pigmentosa 1 9.7 RPGR PDE6G
17 usher syndrome 9.7 USH2A-AS2 USH2A-AS1 USH2A RPGR
18 retinal degeneration 9.4 USH2A RPGR PDE6G
19 achromatopsia 9.3 USH2A RPGR RGS9BP RAB28
20 cone-rod dystrophy 6 9.3 RPGR PDE6G
21 congenital stationary night blindness 9.2 USH2A RPGR RGS9BP PDE6G
22 leber plus disease 9.1 USH2A RPGR RGS9BP PDE6G
23 oguchi disease 1 8.9 RGS9BP RAB8B RAB28 PDE6G
24 oguchi disease 2 8.9 RGS9BP RAB8B RAB28 PDE6G
25 fundus dystrophy 8.7 USH2A RPGR RGS9BP RAB28 PDE6G
26 retinitis pigmentosa 8.2 USH2A-AS2 USH2A-AS1 USH2A RPGR RGS9BP RAB28

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 39:



Diseases related to Retinitis Pigmentosa 39

Symptoms & Phenotypes for Retinitis Pigmentosa 39

Human phenotypes related to Retinitis Pigmentosa 39:

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

Clinical features from OMIM:

613809

MGI Mouse Phenotypes related to Retinitis Pigmentosa 39:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 PDE6G RAB28 RAB8B RGS9BP RPGR USH2A

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 29 USH2A

Anatomical Context for Retinitis Pigmentosa 39

MalaCards organs/tissues related to Retinitis Pigmentosa 39:

40
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 39

Articles related to Retinitis Pigmentosa 39:

(show all 12)
# Title Authors PMID Year
1
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 6 56
17296898 2007
2
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. 56 6
12427073 2002
3
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 6 56
10775529 2000
4
Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families. 6
29912909 2018
5
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
6
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 6
25649381 2015
7
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. 6
25823529 2015
8
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
9
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 56
20507924 2010
10
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. 6
12525556 2003
11
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
12
Immunogenicity and protective efficacy of Brucella abortus recombinant protein cocktail (rOmp19+rP39) against B. abortus 544 and B. melitensis 16M infection in murine model. 61
26826463 2016

Variations for Retinitis Pigmentosa 39

ClinVar genetic disease variations for Retinitis Pigmentosa 39:

6 (show top 50) (show all 533) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USH2A NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter)SNV Pathogenic 419282 rs200712760 1:216061824-216061824 1:215888482-215888482
2 USH2A NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter)SNV Pathogenic 438014 rs1003869920 1:215847677-215847677 1:215674335-215674335
3 USH2A NM_206933.3(USH2A):c.12819T>A (p.Tyr4273Ter)SNV Pathogenic 438008 rs1362058696 1:215848434-215848434 1:215675092-215675092
4 USH2A NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)SNV Pathogenic 438002 rs780308389 1:216498735-216498735 1:216325393-216325393
5 USH2A NM_206933.3(USH2A):c.100C>T (p.Arg34Ter)SNV Pathogenic 438000 rs772808534 1:216595579-216595579 1:216422237-216422237
6 USH2A NM_206933.3(USH2A):c.9571-2A>GSNV Pathogenic 438033 rs751111524 1:215987248-215987248 1:215813906-215813906
7 USH2A NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter)SNV Pathogenic 438021 rs746551311 1:216369924-216369924 1:216196582-216196582
8 USH2A NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)SNV Pathogenic 504513 rs199679165 1:216270538-216270538 1:216097196-216097196
9 USH2A NM_206933.3(USH2A):c.7524del (p.Arg2509fs)deletion Pathogenic 517494 rs751176116 1:216073487-216073487 1:215900145-215900145
10 USH2A NM_206933.3(USH2A):c.10388-1G>CSNV Pathogenic 522485 rs1553261478 1:215956278-215956278 1:215782936-215782936
11 USH2A NM_007123.5(USH2A):c.667dup (p.Ile223fs)duplication Pathogenic 522527 rs1553253747 1:216538411-216538412 1:216365069-216365070
12 USH2A NM_206933.3(USH2A):c.13621C>T (p.Gln4541Ter)SNV Pathogenic 555195 rs765476745 1:215847632-215847632 1:215674290-215674290
13 USH2A NM_206933.3(USH2A):c.13700del (p.Leu4567fs)deletion Pathogenic 555701 rs1212608410 1:215847553-215847553 1:215674211-215674211
14 USH2A NM_206933.3(USH2A):c.10388-1G>ASNV Pathogenic 557493 rs1553261478 1:215956278-215956278 1:215782936-215782936
15 USH2A NM_206933.3(USH2A):c.14977_14978del (p.Phe4993fs)deletion Pathogenic 555201 rs747160949 1:215812571-215812572 1:215639229-215639230
16 USH2A NM_206933.3(USH2A):c.14131C>T (p.Gln4711Ter)SNV Pathogenic 554236 rs747063294 1:215844316-215844316 1:215670974-215670974
17 USH2A NM_206933.3(USH2A):c.13822C>T (p.Arg4608Ter)SNV Pathogenic 557745 rs367674026 1:215844625-215844625 1:215671283-215671283
18 USH2A NM_206933.3(USH2A):c.9270C>A (p.Cys3090Ter)SNV Pathogenic 557177 rs779572631 1:216011434-216011434 1:215838092-215838092
19 USH2A NM_206933.3(USH2A):c.13207_13208del (p.Gly4403fs)deletion Pathogenic 558124 rs746447649 1:215848045-215848046 1:215674703-215674704
20 USH2A NM_206933.3(USH2A):c.8079G>A (p.Trp2693Ter)SNV Pathogenic 553648 rs1553273330 1:216061912-216061912 1:215888570-215888570
21 USH2A NM_206933.3(USH2A):c.5399G>A (p.Trp1800Ter)SNV Pathogenic 556449 rs1553299079 1:216251604-216251604 1:216078262-216078262
22 USH2A NM_206933.3(USH2A):c.8834G>A (p.Trp2945Ter)SNV Pathogenic 557801 rs760302201 1:216040360-216040360 1:215867018-215867018
23 USH2A NM_007123.5(USH2A):c.545_546del (p.Lys182fs)deletion Pathogenic 556324 rs780779563 1:216591961-216591962 1:216418619-216418620
24 USH2A NM_206933.3(USH2A):c.9469C>T (p.Gln3157Ter)SNV Pathogenic 555916 rs772100045 1:215990440-215990440 1:215817098-215817098
25 USH2A NM_206933.3(USH2A):c.3920C>G (p.Ser1307Ter)SNV Pathogenic 553983 rs756623509 1:216371818-216371818 1:216198476-216198476
26 USH2A NM_206933.3(USH2A):c.3883C>T (p.Arg1295Ter)SNV Pathogenic 556829 rs764797292 1:216371855-216371855 1:216198513-216198513
27 USH2A NM_206933.3(USH2A):c.2610C>A (p.Cys870Ter)SNV Pathogenic 557167 rs767078782 1:216420126-216420126 1:216246784-216246784
28 USH2A NM_206933.3(USH2A):c.2797C>T (p.Gln933Ter)SNV Pathogenic 553620 rs1394737087 1:216419939-216419939 1:216246597-216246597
29 USH2A NM_206933.3(USH2A):c.2168-1G>CSNV Pathogenic 556842 rs748961218 1:216420569-216420569 1:216247227-216247227
30 USH2A NM_206933.2(USH2A):c.852_853delGA (p.Glu284Aspfs)short repeat Pathogenic 553452 rs1188025733 1:216498937-216498938 1:216325595-216325596
31 USH2A NM_206933.3(USH2A):c.2023C>T (p.Gln675Ter)SNV Pathogenic 553607 rs868562952 1:216424389-216424389 1:216251047-216251047
32 USH2A NM_206933.3(USH2A):c.236_239dup (p.Gln81fs)duplication Pathogenic 552849 rs1553258097 1:216595439-216595440 1:216422097-216422098
33 USH2A NM_206933.3(USH2A):c.187C>T (p.Arg63Ter)SNV Pathogenic 556744 rs781223647 1:216595492-216595492 1:216422150-216422150
34 USH2A NM_206933.2(USH2A):c.(4758+1_4759-1)_(5298+1_5299-1)deldeletion Pathogenic 565300 1:216251705-216270424 1:216078363-216097082
35 USH2A NM_206933.3(USH2A):c.8089G>T (p.Glu2697Ter)SNV Pathogenic 620588 rs1558146243 1:216061902-216061902 1:215888560-215888560
36 USH2A NM_206933.3(USH2A):c.4334_4335CT[2] (p.Cys1447fs)short repeat Pathogenic 2353 rs111033367 1:216363622-216363623 1:216190280-216190281
37 USH2A NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)SNV Pathogenic 2356 rs80338902 1:216420460-216420460 1:216247118-216247118
38 USH2A NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232
39 USH2A NM_206933.4(USH2A):c.949C>A (p.Arg317=)SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499
40 USH2A NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)SNV Pathogenic 2359 rs121912600 1:216497582-216497582 1:216324240-216324240
41 USH2A NM_206933.3(USH2A):c.240_241insGATC (p.Gln81fs)insertion Pathogenic 2360 rs587776538 1:216595438-216595439 1:216422096-216422097
42 USH2A NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)SNV Pathogenic 2361 rs111033334 1:216420527-216420527 1:216247185-216247185
43 USH2A NM_206933.4(USH2A):c.409dup (p.Ser137fs)duplication Pathogenic 829992 1:216595269-216595270 1:216421927-216421928
44 USH2A NM_007123.5(USH2A):c.2898del (p.Thr967fs)deletion Pathogenic 2352 rs397518008 1:216405390-216405390 1:216232048-216232048
45 USH2A NM_206933.3(USH2A):c.7595-2144A>GSNV Pathogenic 30722 rs786200928 1:216064540-216064540 1:215891198-215891198
46 USH2A NM_206933.3(USH2A):c.10190_10191del (p.Lys3397fs)deletion Pathogenic 48343 rs397517964 1:215960208-215960209 1:215786866-215786867
47 USH2A NM_206933.3(USH2A):c.1036A>C (p.Asn346His)SNV Pathogenic 48347 rs369522997 1:216498754-216498754 1:216325412-216325412
48 USH2A NM_206933.3(USH2A):c.11411del (p.Pro3804fs)deletion Pathogenic 48375 rs397517973 1:215916656-215916656 1:215743314-215743314
49 USH2A NM_206933.4(USH2A):c.12067-2A>GSNV Pathogenic 48390 rs397517978 1:215853720-215853720 1:215680378-215680378
50 USH2A NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter)SNV Pathogenic 48408 rs397517983 1:215848385-215848385 1:215675043-215675043

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

73 (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

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

Cellular components related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 RPGR RGS9BP
2 ciliary basal body GO:0036064 8.8 USH2A RPGR RAB28

Biological processes related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.33 RPGR RAB8B RAB28
2 Rab protein signal transduction GO:0032482 9.26 RAB8B RAB28
3 response to stimulus GO:0050896 9.26 USH2A RPGR RGS9BP PDE6G
4 visual perception GO:0007601 8.92 USH2A RPGR RGS9BP PDE6G

Molecular functions related to Retinitis Pigmentosa 39 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GDP binding GO:0019003 8.62 RAB8B RAB28

Sources for Retinitis Pigmentosa 39

3 CDC
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11 DGIdb
17 EFO
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68 SNOMED-CT via HPO
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