RP17
MCID: RTN046
MIFTS: 37

Retinitis Pigmentosa 17 (RP17)

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

Aliases & Classifications for Retinitis Pigmentosa 17

MalaCards integrated aliases for Retinitis Pigmentosa 17:

Name: Retinitis Pigmentosa 17 57 12 20 72 29 13 6 15 70
Rp17 57 12 72
Retinitis Pigmentosa, Type 17 39
Rp 17 20

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset as early as age 15 (mean age of onset between 20 and 30 years)


HPO:

31
retinitis pigmentosa 17:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110404
OMIM® 57 600852
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1833245
UMLS 70 C1833245

Summaries for Retinitis Pigmentosa 17

UniProtKB/Swiss-Prot : 72 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 retinal disease and cone-rod dystrophy 2. An important gene associated with Retinitis Pigmentosa 17 is CA4 (Carbonic Anhydrase 4), and among its related pathways/superpathways are Proximal tubule bicarbonate reclamation and Nitrogen metabolism. Affiliated tissues include retina, eye and bone, 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.

OMIM® : 57 Retinitis pigmentosa-17 (RP17) is characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression. Many affected individuals have preserved central vision and acuity until the sixth or seventh decades of life (de Bruijn et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (600852) (Updated 05-Apr-2021)

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show all 26)
# Related Disease Score Top Affiliating Genes
1 retinal disease 29.7 RPGR RP9 CA4
2 cone-rod dystrophy 2 29.0 RPGR PRCD GNGT2 FSCN2 CA4
3 retinitis pigmentosa 27.1 YPEL2 SLC4A4 RPGR RP9 RGS9 PRCD
4 chronic interstitial cystitis 10.2 PRCD FSCN2
5 retinitis pigmentosa 34 10.2 RPGR PRCD
6 neuroretinitis 10.2
7 retinitis 10.2
8 retinitis pigmentosa 19 10.1 RPGR RP9
9 retinitis pigmentosa 14 10.1 RPGR RP9
10 retinitis pigmentosa 20 10.1 RPGR RP9
11 retinitis pigmentosa 4 10.1 RPGR RP9
12 retinitis pigmentosa 10 10.1 RPGR RP9
13 retinitis pigmentosa 13 10.1 RPGR RP9
14 retinitis pigmentosa 7 10.1 RPGR RP9
15 retinitis pigmentosa 31 10.0 RPGR RP9 FSCN2
16 eye degenerative disease 10.0 RPGR RP9 PRCD
17 yemenite deaf-blind hypopigmentation syndrome 10.0
18 gyrate atrophy of choroid and retina 10.0 RPGR RP9
19 retinitis pigmentosa 6 9.9 RPGR RP9 AAR2
20 yaws 9.9
21 corneal dystrophy, band-shaped 9.9 SLC4A4 CA14
22 renal tubular acidosis 9.8 SLC4A4 CA4 CA14
23 leber plus disease 9.7 RPGR RP9 RGS9 PRCD FSCN2
24 enhanced s-cone syndrome 9.7 RPGR GNGT2
25 fundus dystrophy 9.7 RPGR RP9 PRCD FSCN2 CA4
26 osteopetrosis, autosomal recessive 3 9.5 SLC4A4 CA4 CA3 CA14

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 17:



Diseases related to Retinitis Pigmentosa 17

Symptoms & Phenotypes for Retinitis Pigmentosa 17

Human phenotypes related to Retinitis Pigmentosa 17:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 nyctalopia 31 HP:0000662
3 color vision defect 31 HP:0000551
4 rod-cone dystrophy 31 HP:0000510
5 bone spicule pigmentation of the retina 31 HP:0007737

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
photophobia
reduced night vision
reduced peripheral vision
bone-spicule pigmentation
pigment dispersion
more

Clinical features from OMIM®:

600852 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 CA14 CA4 FSCN2 GNGT2 RGS9 RPGR

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 29

Anatomical Context for Retinitis Pigmentosa 17

MalaCards organs/tissues related to Retinitis Pigmentosa 17:

40
Retina, Eye, Bone, Kidney, Neutrophil

Publications for Retinitis Pigmentosa 17

Articles related to Retinitis Pigmentosa 17:

(show all 39)
# Title Authors PMID Year
1
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. 57 61
33022222 2020
2
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 61 57
15090652 2004
3
Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin. 57 61
10234509 1999
4
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. 57 61
10071195 1999
5
Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes. 61 57
9385361 1997
6
Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden. 57
20238024 2010
7
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 57
15563508 2005
8
An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q. 57
7581389 1995
9
Antibody responses to two recombinant treponemal antigens (rp17 and TmpA) before and after azithromycin treatment for yaws in Ghana and Papua New Guinea. 61
33568467 2021
10
Chlorogenic acid-enriched extract of Ilex kudingcha C.J. Tseng tea inhibits neutrophil recruitment in injured zebrafish by promoting reverse migration via the focal adhesion pathway. 61
32686853 2020
11
Assessing "Cell Therapy" Clinics Offering Treatments of Ocular Conditions using Direct-to-Consumer Marketing Websites in the United States. 61
30904542 2019
12
Evaluation of Multiplex-Based Antibody Testing for Use in Large-Scale Surveillance for Yaws: a Comparative Study. 61
26962086 2016
13
Aβ1-17 is a major amyloid-β fragment isoform in cerebrospinal fluid and blood with possible diagnostic value in Alzheimer's disease. 61
25061046 2015
14
Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17. 61
20626030 2010
15
Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK. 61
20308551 2010
16
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV. 61
19211803 2009
17
Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. 61
18344446 2008
18
[Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa]. 61
18067080 2007
19
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. 61
17652713 2007
20
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17. 61
15295099 2004
21
Radiation hybrid map, physical map, and low-pass genomic sequence of the canine prcd region on CFA9 and comparative mapping with the syntenic region on human chromosome 17. 61
12620391 2003
22
Measuring growth of a phenanthrene-degrading bacterial inoculum in soil with a quantitative competitive polymerase chain reaction method. 61
11053730 2000
23
Characterization of human retinal fascin gene (FSCN2) at 17q25: close physical linkage of fascin and cytoplasmic actin genes. 61
10783262 2000
24
Structure, alternative splicing, and expression of the human RGS9 gene. 61
10564809 1999
25
Characterization of the human diacylglycerol kinase epsilon gene and its assessment as a candidate for inherited retinitis pigmentosa. 61
10571048 1999
26
Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization. 61
10373321 1999
27
Use of indirectly immobilized recombinant p17 antigen for detection of antibodies to HIV-1 by enzyme immunoassay. 61
10025732 1999
28
Evaluation of the affinity measurement of anti-HIV-1 p17 monoclonal antibody by BIAcore. 61
9873993 1998
29
Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. 61
9501213 1998
30
Random expression of human immunodeficiency virus-1 (HIV-1) p17 (epitopes) on the surface of the HIV-1-infected cell. 61
9523241 1998
31
Sensitive enzyme immunoassay of antibodies to HIV-1 p17 antigen using indirectly immobilized recombinant p17 for diagnosis of HIV-1 infection. 61
9850185 1998
32
Immune complex transfer enzyme immunoassay for antibody IgM to HIV-1 p17 antigen. 61
9850183 1998
33
Ultrasensitive and rapid enzyme immunoassay (thin aqueous layer immune complex transfer enzyme immunoassay) for antibody IgG to HIV-1 p17 antigen. 61
9591706 1998
34
More reliable diagnosis of infection with human immunodeficiency virus type 1 (HIV-1) by detection of antibody IgGs to pol and gag proteins of HIV-1 and p24 antigen of HIV-1 in urine, saliva, and/or serum with highly sensitive and specific enzyme immunoassay (immune complex transfer enzyme immunoassay): a review. 61
9292394 1997
35
Immune complex transfer enzyme immunoassay that is more sensitive and specific than western blotting for detection of antibody immunoglobulin G to human immunodeficiency virus type 1 in serum with recombinant pol and gag proteins as antigens. 61
8548531 1995
36
Cloning and nucleotide sequence of a specific DNA fragment from Paracoccidioides brasiliensis. 61
7650207 1995
37
Three antigenic regions in p17 of human immunodeficiency virus type 1 (HIV-1) revealed by mouse monoclonal antibodies and human antibodies in HIV-1 carrier sera. 61
8577268 1995
38
Purification, primary structure and molecular cloning of a rat ribosomal protein showing homology with yeast ribosomal protein YL34. 61
1735422 1992
39
Genetic analysis of a mouse t complex locus that is homologous to a kidney cDNA clone. 61
3792827 1986

Variations for Retinitis Pigmentosa 17

ClinVar genetic disease variations for Retinitis Pigmentosa 17:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CA4 NM_000717.5(CA4):c.655C>A (p.Arg219Ser) SNV Uncertain significance 17608 rs121434551 GRCh37: 17:58235718-58235718
GRCh38: 17:60158357-60158357
2 CA4 NM_000717.5(CA4):c.206G>A (p.Arg69His) SNV Uncertain significance 17609 rs121434552 GRCh37: 17:58234014-58234014
GRCh38: 17:60156653-60156653
3 CA4 NM_000717.5(CA4):c.*59G>A SNV Uncertain significance 445984 rs530720914 GRCh37: 17:58236844-58236844
GRCh38: 17:60159483-60159483
4 CA4 NM_000717.5(CA4):c.40C>T (p.Arg14Trp) SNV Uncertain significance 17607 rs104894559 GRCh37: 17:58227435-58227435
GRCh38: 17:60150074-60150074

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

72
# 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

Expression for Retinitis Pigmentosa 17

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

Pathways for Retinitis Pigmentosa 17

Pathways related to Retinitis Pigmentosa 17 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.32 SLC4A4 CA4
2
Show member pathways
10.26 CA4 CA3 CA14

GO Terms for Retinitis Pigmentosa 17

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.46 RPGR RGS9 PRCD FSCN2
2 one-carbon metabolic process GO:0006730 9.13 CA4 CA3 CA14
3 bicarbonate transport GO:0015701 8.92 SLC4A4 CA4 CA3 CA14

Molecular functions related to Retinitis Pigmentosa 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.33 CA4 CA3 CA14
2 hydro-lyase activity GO:0016836 9.13 CA4 CA3 CA14
3 carbonate dehydratase activity GO:0004089 8.8 CA4 CA3 CA14

Sources for Retinitis Pigmentosa 17

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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