RP35
MCID: RTN064
MIFTS: 36

Retinitis Pigmentosa 35 (RP35)

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

Aliases & Classifications for Retinitis Pigmentosa 35

MalaCards integrated aliases for Retinitis Pigmentosa 35:

Name: Retinitis Pigmentosa 35 56 12 52 73 29 13 6 15 71
Rp35 56 12 73
Retinitis Pigmentosa, Type 35 39
Rp 35 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
allelic with cone-rod dystrophy 10


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0110357
OMIM 56 610282
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C1853214
UMLS 71 C1853214

Summaries for Retinitis Pigmentosa 35

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 35: 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 35, also known as rp35, is related to retinitis pigmentosa 25 and cone-rod dystrophy 15. An important gene associated with Retinitis Pigmentosa 35 is SEMA4A (Semaphorin 4A), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, bone and retina, and related phenotypes are blindness and abnormality of skin pigmentation

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the SEMA4A gene on chromosome 1q22.

More information from OMIM: 610282 PS268000

Related Diseases for Retinitis Pigmentosa 35

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 35 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 25 10.1 RPGR CDHR1
2 cone-rod dystrophy 15 10.1 CNGB1 CDHR1
3 night blindness, congenital stationary, autosomal dominant 1 10.1 SEMA4A LSM8
4 color blindness 10.0 RPGR CNGB1
5 usher syndrome type 2 10.0 RPGR CNGB1
6 leber congenital amaurosis 10 10.0 RPGR RDH12
7 retinitis pigmentosa 44 10.0 RDH12 CDHR1
8 leber congenital amaurosis 2 9.9 RPGR RDH12
9 cone-rod dystrophy 6 9.9 RPGR CNGB1
10 retinitis pigmentosa 26 9.9 RPGR CNGB1 CDHR1
11 fundus albipunctatus 9.8 RPGR RDH12
12 senior-loken syndrome 1 9.8 RPGR RDH12
13 retinitis 9.8 SEMA4A RPGR RDH12
14 stargardt disease 9.7 RPGR RDH12 CDHR1
15 achromatopsia 9.7 RPGR RDH12 CNGB1
16 eye degenerative disease 9.7 RPGR RDH12 CNGB1
17 congenital stationary night blindness 9.6 RPGR RDH12 CNGB1
18 usher syndrome, type iiia 9.6 RDH12 CNGB1
19 usher syndrome 9.6 RPGR RDH12 CNGB1
20 bardet-biedl syndrome 9.5 RPGR RDH12 CNGB1
21 pathologic nystagmus 9.5 RPGR RDH12
22 leber plus disease 9.4 RPGR RDH12 CNGB1 CDHR1
23 inherited retinal disorder 9.3 RPGR RDH12 CNGB1 CDHR1
24 retinal disease 9.2 SEMA4A RPGR RDH12 CNGB1 CDHR1
25 cone-rod dystrophy 2 9.2 SEMA4A RPGR RDH12 CNGB1 CDHR1
26 fundus dystrophy 9.1 SEMA4A RPGR RDH12 CNGB1 CDHR1
27 retinitis pigmentosa 8.8 SEMA4A RPGR RDH12 LSM8 CNGB1 CDHR1
28 retinal degeneration 8.8 SEMA4A RPGR RDH12 PPEF1 CNGB1 CDHR1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 35:



Diseases related to Retinitis Pigmentosa 35

Symptoms & Phenotypes for Retinitis Pigmentosa 35

Human phenotypes related to Retinitis Pigmentosa 35:

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 abnormality of skin pigmentation 31 HP:0001000
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 cone/cone-rod dystrophy 31 HP:0000548

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
night blindness followed by complete blindness
bone corpuscle-like pigmentation in equatorial and peripheral areas
attenuated blood vessels in periphery
macula clear in early stages

Clinical features from OMIM:

610282

MGI Mouse Phenotypes related to Retinitis Pigmentosa 35:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CDHR1 PPEF1 RDH12 RPGR SEMA4A

Drugs & Therapeutics for Retinitis Pigmentosa 35

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 35

Genetic Tests for Retinitis Pigmentosa 35

Genetic tests related to Retinitis Pigmentosa 35:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 35 29 SEMA4A

Anatomical Context for Retinitis Pigmentosa 35

MalaCards organs/tissues related to Retinitis Pigmentosa 35:

40
Eye, Bone, Retina, Skin, Cervix, Lung

Publications for Retinitis Pigmentosa 35

Articles related to Retinitis Pigmentosa 35:

(show all 17)
# Title Authors PMID Year
1
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 6 56
16199541 2006
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
5
Yeast Associated with Rice Phylloplane and Their Contribution to Control of Rice Sheath Blight Disease. 61
32138375 2020
6
Biological Control of Fruit Rot and Anthracnose of Postharvest Mango by Antagonistic Yeasts from Economic Crops Leaves. 61
32106522 2020
7
Relative frequency of inherited retinal dystrophies in Brazil. 61
30374144 2018
8
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. 61
25675413 2015
9
Pulmonary granulomas caused experimentally in mice by a recombinant trigger-factor protein of Propionibacterium acnes. 61
15074354 2003
10
The ATPase domain of hsp70 possesses a unique binding specificity for 3'-sulfogalactolipids. 61
11024054 2001
11
Proliferative response of peripheral blood mononuclear cells and levels of antibody to recombinant protein from Propionibacterium acnes DNA expression library in Japanese patients with sarcoidosis. 61
11033841 2000
12
Serodiagnosis of recently acquired Toxoplasma gondii infection using an enzyme-linked immunosorbent assay with a combination of recombinant antigens. 61
10973455 2000
13
Serodiagnosis of recently acquired Toxoplasma gondii infection with a recombinant antigen. 61
10618084 2000
14
[Clinical significance of oncogene product expression in human lung cancer]. 61
1331597 1992
15
Ras oncogene expression and progression in intraepithelial neoplasia of the uterine cervix. 61
2196111 1990
16
ras oncogene expression and prognosis of invasive squamous cell carcinomas of the uterine cervix. 61
2647277 1989
17
[An attempt at using monoclonal antibodies to oncogene products]. 61
3300558 1987

Variations for Retinitis Pigmentosa 35

ClinVar genetic disease variations for Retinitis Pigmentosa 35:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEMA4A NM_022367.4(SEMA4A):c.1033G>C (p.Asp345His)SNV Pathogenic 3360 rs267607033 1:156132784-156132784 1:156162993-156162993
2 SEMA4A NM_022367.4(SEMA4A):c.1049T>G (p.Phe350Cys)SNV Pathogenic 3361 rs267607034 1:156132800-156132800 1:156163009-156163009
3 SEMA4A NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln)SNV Benign/Likely benign 3362 rs41265017 1:156146640-156146640 1:156176849-156176849

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 35:

73
# Symbol AA change Variation ID SNP ID
1 SEMA4A p.Asp345His VAR_028322 rs267607033
2 SEMA4A p.Phe350Cys VAR_028323 rs267607034

Expression for Retinitis Pigmentosa 35

Search GEO for disease gene expression data for Retinitis Pigmentosa 35.

Pathways for Retinitis Pigmentosa 35

GO Terms for Retinitis Pigmentosa 35

Cellular components related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.62 RPGR CNGB1

Biological processes related to Retinitis Pigmentosa 35 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.43 RPGR RDH12 CNGB1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 PPEF1 CNGB1
3 photoreceptor cell outer segment organization GO:0035845 8.96 CNGB1 CDHR1
4 photoreceptor cell maintenance GO:0045494 8.8 RDH12 CNGB1 CDHR1

Sources for Retinitis Pigmentosa 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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