RP17
MCID: RTN046
MIFTS: 31

Retinitis Pigmentosa 17 (RP17)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 17

MalaCards integrated aliases for Retinitis Pigmentosa 17:

Name: Retinitis Pigmentosa 17 58 12 54 76 30 13 6 15 74
Rp17 58 12 76
Retinitis Pigmentosa, Type 17 41
Rp 17 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (17)


HPO:

33
retinitis pigmentosa 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110404
OMIM 58 600852
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1833245
UMLS 74 C1833245

Summaries for Retinitis Pigmentosa 17

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 17: 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 17, also known as rp17, is related to retinitis pigmentosa and leber congenital amaurosis 4. An important gene associated with Retinitis Pigmentosa 17 is CA4 (Carbonic Anhydrase 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include bone, eye and retina, and related phenotypes are photophobia and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CA4 gene on chromosome 17q23.1.

Description from OMIM: 600852

Related Diseases for Retinitis Pigmentosa 17

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 17 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.5 CA4 FSCN2 PDE6G PRCD RGS9
2 leber congenital amaurosis 4 10.1
3 retinitis 10.1
4 cone-rod dystrophy 6 9.6 PDE6G PRCD

Symptoms & Phenotypes for Retinitis Pigmentosa 17

Human phenotypes related to Retinitis Pigmentosa 17:

33
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 bone spicule pigmentation of the retina 33 HP:0007737
5 color vision defect 33 HP:0000551

Symptoms via clinical synopsis from OMIM:

58
Eyes:
retinitis pigmentosa

Clinical features from OMIM:

600852

MGI Mouse Phenotypes related to Retinitis Pigmentosa 17:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.92 FSCN2 GALK1 PDE6G RGS9

Drugs & Therapeutics for Retinitis Pigmentosa 17

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 17

Genetic Tests for Retinitis Pigmentosa 17

Genetic tests related to Retinitis Pigmentosa 17:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 17 30 CA4

Anatomical Context for Retinitis Pigmentosa 17

MalaCards organs/tissues related to Retinitis Pigmentosa 17:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 17

Articles related to Retinitis Pigmentosa 17:

# Title Authors Year
1
Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17. ( 20626030 )
2010
2
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. ( 17652713 )
2007
3
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. ( 15563508 )
2005
4
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. ( 15090652 )
2004
5
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17. ( 15295099 )
2004
6
Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin. ( 10234509 )
1999
7
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. ( 10071195 )
1999
8
Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. ( 9501213 )
1998
9
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes. ( 9385361 )
1997
10
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. ( 7581389 )
1995

Variations for Retinitis Pigmentosa 17

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 17:

76
# Symbol AA change Variation ID SNP ID
1 CA4 p.Arg14Trp VAR_024749 rs104894559
2 CA4 p.Arg219Ser VAR_024750 rs121434551
3 CA4 p.Ala12Thr VAR_071430 rs124519937
4 CA4 p.Arg69His VAR_071431 rs121434552

ClinVar genetic disease variations for Retinitis Pigmentosa 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CA4 NM_000717.4(CA4): c.40C> T (p.Arg14Trp) single nucleotide variant Pathogenic rs104894559 GRCh37 Chromosome 17, 58227435: 58227435
2 CA4 NM_000717.4(CA4): c.40C> T (p.Arg14Trp) single nucleotide variant Pathogenic rs104894559 GRCh38 Chromosome 17, 60150074: 60150074
3 CA4 NM_000717.4(CA4): c.655C> A (p.Arg219Ser) single nucleotide variant Pathogenic rs121434551 GRCh37 Chromosome 17, 58235718: 58235718
4 CA4 NM_000717.4(CA4): c.655C> A (p.Arg219Ser) single nucleotide variant Pathogenic rs121434551 GRCh38 Chromosome 17, 60158357: 60158357
5 CA4 NM_000717.4(CA4): c.206G> A (p.Arg69His) single nucleotide variant Pathogenic rs121434552 GRCh37 Chromosome 17, 58234014: 58234014
6 CA4 NM_000717.4(CA4): c.206G> A (p.Arg69His) single nucleotide variant Pathogenic rs121434552 GRCh38 Chromosome 17, 60156653: 60156653

Expression for Retinitis Pigmentosa 17

Search GEO for disease gene expression data for Retinitis Pigmentosa 17.

Pathways for Retinitis Pigmentosa 17

GO Terms for Retinitis Pigmentosa 17

Cellular components related to Retinitis Pigmentosa 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.32 PDE6G

Biological processes related to Retinitis Pigmentosa 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.13 PDE6G PRCD RGS9
2 visual perception GO:0007601 8.92 FSCN2 PDE6G PRCD RGS9

Sources for Retinitis Pigmentosa 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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