RP30
MCID: RTN059
MIFTS: 34

Retinitis Pigmentosa 30 (RP30)

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

Aliases & Classifications for Retinitis Pigmentosa 30

MalaCards integrated aliases for Retinitis Pigmentosa 30:

Name: Retinitis Pigmentosa 30 57 12 20 72 29 13 6 15 70
Rp30 57 12 72
Retinitis Pigmentosa, Type 30 39
Rp 30 20

Characteristics:

HPO:

31
retinitis pigmentosa 30:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110406
OMIM® 57 607921
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1842816
UMLS 70 C1842816

Summaries for Retinitis Pigmentosa 30

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 30: 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 30, also known as rp30, is related to retinitis pigmentosa and neuroretinitis. An important gene associated with Retinitis Pigmentosa 30 is FSCN2 (Fascin Actin-Bundling Protein 2, Retinal). Affiliated tissues include retina, eye and bone, and related phenotypes are visual impairment and optic atrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the FSCN2 gene on chromosome 17q25.

More information from OMIM: 607921 PS268000

Related Diseases for Retinitis Pigmentosa 30

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
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 30 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.2
2 neuroretinitis 10.2
3 uveitis 10.2
4 retinitis 10.2
5 intermediate uveitis 10.0
6 fundus dystrophy 10.0
7 vasculitis 10.0
8 iridocyclitis 10.0
9 posttransplant acute limbic encephalitis 10.0
10 inherited retinal disorder 10.0
11 coronary stenosis 10.0
12 vulto-van silfhout-de vries syndrome 9.9 MYOM2 BRDT
13 familial woolly hair syndrome 9.8 VSIG8 SNHG28
14 monilethrix 9.7 VSIG8 SNHG28 KRT84

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 30:



Diseases related to Retinitis Pigmentosa 30

Symptoms & Phenotypes for Retinitis Pigmentosa 30

Human phenotypes related to Retinitis Pigmentosa 30:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 optic atrophy 31 HP:0000648
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 attenuation of retinal blood vessels 31 HP:0007843
6 chorioretinal atrophy 31 HP:0000533
7 bone spicule pigmentation of the retina 31 HP:0007737

Clinical features from OMIM®:

607921 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 30

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 30

Genetic Tests for Retinitis Pigmentosa 30

Genetic tests related to Retinitis Pigmentosa 30:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 30 29 FSCN2

Anatomical Context for Retinitis Pigmentosa 30

MalaCards organs/tissues related to Retinitis Pigmentosa 30:

40
Retina, Eye, Bone, Brain

Publications for Retinitis Pigmentosa 30

Articles related to Retinitis Pigmentosa 30:

(show all 30)
# Title Authors PMID Year
1
Allelic copy number variation in FSCN2 detected using allele-specific genotyping and multiplex real-time PCRs. 57 6
18450588 2008
2
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 57 6
17251446 2007
3
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. 6 57
16799052 2006
4
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 57 6
16280978 2005
5
Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. 6 57
15994872 2005
6
Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. 57 6
14609921 2003
7
Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. 57 6
11527955 2001
8
Targeted disruption of FSCN2 gene induces retinopathy in mice. 57
16043865 2005
9
ATG3 Is Important for the Chorion Ultrastructure During Oogenesis in the Insect Vector Rhodnius prolixus. 61
33613326 2021
10
Corneal Posterior Curvature Changes After Phacoemulsification Cataract Surgery with 2.75 mm Corneal Incision. 61
31263721 2019
11
Uveitis in Patients with Retinitis Pigmentosa: 30 Years' Consecutive Data. 61
28960116 2018
12
Attenuation of vesicular stomatitis virus infection of brain using antiviral drugs and an adeno-associated virus-interferon vector. 61
25462341 2015
13
Unilateral retinitis pigmentosa: 30 years follow-up. 61
24515232 2014
14
High affinity phosphopeptides enrichment and desalting of biological materials on newly engineered poly(glycidyl propargyl ether/divinyl benzene). 61
24006948 2013
15
Vesicular stomatitis virus variants selectively infect and kill human melanomas but not normal melanocytes. 61
23552414 2013
16
Some attenuated variants of vesicular stomatitis virus show enhanced oncolytic activity against human glioblastoma cells relative to normal brain cells. 61
19906910 2010
17
Strategies for improving production and purification of a recombinant protein: rP30 of Toxoplasma gondii expressed in the yeast Schizosaccharomyces pombe. 61
17728194 2008
18
Biochemical properties of the major proteins from Rhodnius prolixus eggshell. 61
17916507 2007
19
Identification and pathogenicity of Vibrio ponticus affecting cultured Japanese sea bass, Lateolabrax japonicus (Cuvier in Cuvier and Valenciennes). 61
17594462 2007
20
Reactivity of synthetic SAG1 (p30) peptide sequences with RH, S273 and Beverley strain-induced anti-Toxoplasma gondii antibodies. 61
17496433 2007
21
Targeting human glioblastoma cells: comparison of nine viruses with oncolytic potential. 61
15857987 2005
22
Toxoplasma gondii antigens GRA1 (p24) and SAG1 (p30): a comparison of their stimulatory influence on T-cell activation and cytokine expression in in vitro cultures. 61
15860934 2005
23
Western blot analysis of sera reactive to human monocytic ehrlichiosis and human granulocytic ehrlichiosis agents. 61
11682518 2001
24
Western and dot blotting analyses of Ehrlichia chaffeensis indirect fluorescent-antibody assay-positive and -negative human sera by using native and recombinant E. chaffeensis and E. canis antigens. 61
10565902 1999
25
Cloning and characterization of multigenes encoding the immunodominant 30-kilodalton major outer membrane proteins of Ehrlichia canis and application of the recombinant protein for serodiagnosis. 61
9705412 1998
26
Examination of antisense RNA and oligodeoxynucleotides as potential inhibitors of avian leukosis virus replication in RP30 cells. 61
9733130 1998
27
[Contrast sensitivity of several blindness-inducing eye diseases and the influence of tinted filter lens]. 61
10451963 1997
28
[Myocardial tomoscintigraphy with 99m Tc-RP30 injected during transluminal coronary angioplasty. Evaluation of the area threatened by coronary stenosis]. 61
2524045 1989
29
Technetium-99m methoxyisobutyl isonitrile (RP30) for quantification of myocardial ischemia and reperfusion in dogs. 61
2970532 1988
30
Properties of producer and non-producer clones of a Marek's disease turkey lymphoblastoid cell line. 61
2848484 1988

Variations for Retinitis Pigmentosa 30

ClinVar genetic disease variations for Retinitis Pigmentosa 30:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FSCN2 NM_012418.4(FSCN2):c.72del (p.Thr25fs) Deletion Pathogenic 2945 rs376633374 GRCh37: 17:79495629-79495629
GRCh38: 17:81528603-81528603
2 FSCN2 NM_012418.4(FSCN2):c.544C>T (p.Arg182Ter) SNV Pathogenic 959904 GRCh37: 17:79496101-79496101
GRCh38: 17:81529075-81529075
3 FSCN2 NM_012418.4(FSCN2):c.829G>A (p.Val277Ile) SNV Uncertain significance 377132 rs181420326 GRCh37: 17:79502080-79502080
GRCh38: 17:81535054-81535054
4 FSCN2 NM_012418.4(FSCN2):c.1025G>A (p.Arg342Gln) SNV Uncertain significance 522327 rs374441539 GRCh37: 17:79503213-79503213
GRCh38: 17:81536187-81536187
5 FSCN2 NM_012418.4(FSCN2):c.1226A>G (p.Tyr409Cys) SNV Uncertain significance 638506 rs1598582453 GRCh37: 17:79503768-79503768
GRCh38: 17:81536742-81536742
6 FSCN2 NM_012418.4(FSCN2):c.833A>G (p.Asn278Ser) SNV Uncertain significance 845050 GRCh37: 17:79502084-79502084
GRCh38: 17:81535058-81535058
7 FSCN2 NM_012418.4(FSCN2):c.49G>A (p.Val17Ile) SNV Likely benign 100561 rs137853900 GRCh37: 17:79495606-79495606
GRCh38: 17:81528580-81528580
8 FSCN2 NM_012418.4(FSCN2):c.718G>A (p.Ala240Thr) SNV Likely benign 287052 rs370156011 GRCh37: 17:79496275-79496275
GRCh38: 17:81529249-81529249
9 FSCN2 NM_012418.4(FSCN2):c.150C>G (p.Pro50=) SNV Likely benign 167104 rs184519759 GRCh37: 17:79495707-79495707
GRCh38: 17:81528681-81528681
10 FSCN2 NM_012418.4(FSCN2):c.633G>A (p.Thr211=) SNV Benign 712297 rs75815349 GRCh37: 17:79496190-79496190
GRCh38: 17:81529164-81529164
11 FSCN2 NM_012418.4(FSCN2):c.357C>T (p.Ser119=) SNV Benign 283804 rs189437871 GRCh37: 17:79495914-79495914
GRCh38: 17:81528888-81528888

Expression for Retinitis Pigmentosa 30

Search GEO for disease gene expression data for Retinitis Pigmentosa 30.

Pathways for Retinitis Pigmentosa 30

GO Terms for Retinitis Pigmentosa 30

Biological processes related to Retinitis Pigmentosa 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of signaling receptor activity GO:2000272 8.96 MTRNR2L7 MTRNR2L6
2 negative regulation of execution phase of apoptosis GO:1900118 8.62 MTRNR2L7 MTRNR2L6

Molecular functions related to Retinitis Pigmentosa 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor antagonist activity GO:0048019 8.62 MTRNR2L7 MTRNR2L6

Sources for Retinitis Pigmentosa 30

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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