RP10
MCID: RTN150
MIFTS: 44

Retinitis Pigmentosa 10 (RP10)

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

Aliases & Classifications for Retinitis Pigmentosa 10

MalaCards integrated aliases for Retinitis Pigmentosa 10:

Name: Retinitis Pigmentosa 10 57 12 72 29 13 6 15 70
Rp10 57 12 72
Retinitis Pigmentosa, Type 10 39

Characteristics:

OMIM®:

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

Miscellaneous:
early onset of symptoms (first to third decades of life) in most patients
rapidly progressive in most patients
some patients declared legally blind in fourth decade of life
cone and rod responses equally reduced on ergs


HPO:

31
retinitis pigmentosa 10:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110388
OMIM® 57 180105
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1867299
UMLS 70 C1867299

Summaries for Retinitis Pigmentosa 10

OMIM® : 57 Retinitis pigmentosa-10 (RP10) is characterized in most patients by early onset and rapid progression of ocular symptoms, beginning with night blindness in childhood, followed by visual field constriction. Some patients experience an eventual reduction in visual acuity. Funduscopy shows typical changes of RP, including optic disc pallor, retinal vascular attenuation, and bone-spicule pattern of pigmentary deposits in the retinal midperiphery. Electroretinography demonstrates equal reduction in rod and cone responses (Jordan et al., 1993; Bowne et al., 2002; Bowne et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (180105) (Updated 05-Apr-2021)

MalaCards based summary : Retinitis Pigmentosa 10, also known as rp10, is related to retinitis pigmentosa and neuroretinitis. An important gene associated with Retinitis Pigmentosa 10 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1), and among its related pathways/superpathways are NF-kappaB Signaling and ICos-ICosL Pathway in T-Helper Cell. Affiliated tissues include retina, eye and bone, and related phenotypes are reduced visual acuity and posterior subcapsular cataract

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the IMPDH1 gene on chromosome 7q32.

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 10: 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.

Related Diseases for Retinitis Pigmentosa 10

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

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.3 TMSB15A RPGR RP9 PTPRC ITGAX IMPDH1
2 neuroretinitis 10.4
3 retinitis 10.4
4 cork-handlers' disease 10.4 CD8A CD4
5 necrotic uveal melanoma 10.4 CD8A CD4
6 early yaws 10.4 CD8A CD4
7 ventilation pneumonitis 10.4 CD8A CD4
8 toxicodendron dermatitis 10.3 IL2 CD8A
9 diffuse infiltrative lymphocytosis syndrome 10.3 CD8A CD4
10 latent syphilis 10.3 CD8A CD4
11 autoimmune lymphoproliferative syndrome, type iia 10.3 CD8A CD4
12 parapsoriasis 10.3 CD8A CD4
13 gastroduodenitis 10.3 CD8A CD4
14 primary syphilis 10.3 CD8A CD4
15 norwegian scabies 10.3 CD8A CD4
16 bird fancier's lung 10.3 CD8A CD4
17 variola major 10.3 CD8A CD4
18 follicular mucinosis 10.3 CD8A CD4
19 tertiary syphilis 10.3 CD8A CD4
20 spongiotic dermatitis 10.3 CD8A CD4
21 acute retinal necrosis syndrome 10.3 CD8A CD4
22 cerebral lymphoma 10.3 CD8A CD4
23 cerebritis 10.3 CD8A CD4
24 invasive malignant thymoma 10.3 CD8A CD4
25 west nile encephalitis 10.3 CD8A CD4
26 granulomatous hepatitis 10.3 CD8A CD4
27 exanthema subitum 10.3 CD8A CD4
28 subacute lymphocytic thyroiditis 10.3 IL2 CD4
29 immunodeficiency 36 10.3 CD8A CD4
30 viral exanthem 10.3 CD8A CD4
31 secondary syphilis 10.3 CD8A CD4
32 glanders 10.3 CD8A CD4
33 oral hairy leukoplakia 10.3 CD8A CD4
34 esophageal candidiasis 10.3 CD8A CD4
35 parotid disease 10.3 CD8A CD4
36 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.3 CD8A CD4
37 splenic tuberculosis 10.2 IL2 CD4
38 skin sarcoidosis 10.2 IL2 CD8A CD4
39 metal allergy 10.2 IL2 CD8A CD4
40 oral tuberculosis 10.2 IL2 CD8A CD4
41 superficial basal cell carcinoma 10.2 IL2 CD8A CD4
42 farmer's lung 10.2 IL2 CD8A CD4
43 nickel allergic contact dermatitis 10.2 IL2 CD8A CD4
44 scleral disease 10.2 IL2 CD8A CD4
45 mucocutaneous leishmaniasis 10.2 IL2 CD8A CD4
46 chorioretinitis 10.2 IL2 CD8A CD4
47 taeniasis 10.2 IL2 CD8A CD4
48 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.2 IL2 CD8A CD4
49 orchitis 10.2 IL2 CD8A CD4
50 filarial elephantiasis 10.2 IL2 CD8A CD4

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 10:



Diseases related to Retinitis Pigmentosa 10

Symptoms & Phenotypes for Retinitis Pigmentosa 10

Human phenotypes related to Retinitis Pigmentosa 10:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 very rare (1%) HP:0007663
2 posterior subcapsular cataract 31 very rare (1%) HP:0007787
3 nyctalopia 31 HP:0000662
4 rod-cone dystrophy 31 HP:0000510
5 optic disc pallor 31 HP:0000543
6 constriction of peripheral visual field 31 HP:0001133
7 bone spicule pigmentation of the retina 31 HP:0007737
8 undetectable light- and dark-adapted electroretinogram 31 HP:0007688
9 geographic atrophy 31 HP:0031609

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
optic disc pallor
night blindness, progressive
visual field constriction, progressive
color vision fluctuation (rare)
reduced visual acuity (in some patients)
more

Clinical features from OMIM®:

180105 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 10

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 10

Genetic Tests for Retinitis Pigmentosa 10

Genetic tests related to Retinitis Pigmentosa 10:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 10 29 IMPDH1

Anatomical Context for Retinitis Pigmentosa 10

MalaCards organs/tissues related to Retinitis Pigmentosa 10:

40
Retina, Eye, Bone, T Cells

Publications for Retinitis Pigmentosa 10

Articles related to Retinitis Pigmentosa 10:

(show all 45)
# Title Authors PMID Year
1
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. 57 6 61
11875049 2002
2
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. 6 57 61
11875050 2002
3
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population. 57 6
26720483 2015
4
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. 6 61
16671097 2006
5
Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. 61 57
8723719 1996
6
Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. 61 57
7814030 1995
7
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. 57
16384941 2006
8
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. 6
15851576 2005
9
An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q. 57
7635473 1995
10
Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q. 57
8513324 1993
11
A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. 57
8513323 1993
12
Draft Genome Sequence of Bacillus safensis RP10, Isolated from Soil in the Atacama Desert, Chile. 61
31672748 2019
13
Epigenetic silencing of KAZALD1 confers a better prognosis and is associated with malignant transformation/progression in glioma. 61
24002581 2013
14
Shuttle vectors for facile gap repair cloning and integration into a neutral locus in Candida albicans. 61
23306673 2013
15
Molecular recruitment as a basis for negative dominant inheritance? propagation of misfolding in oligomers of IMPDH1, the mutated enzyme in the RP10 form of retinitis pigmentosa. 61
21791244 2011
16
Unveiling novel genes upregulated by both rhBMP2 and rhBMP7 during early osteoblastic transdifferentiation of C2C12 cells. 61
21943021 2011
17
Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90). 61
20817636 2010
18
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. 61
20238057 2010
19
Protection of photoreceptors in a mouse model of RP10. 61
20238059 2010
20
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). 61
18385099 2008
21
Status of children in blind schools in the northern areas of Pakistan. 61
18693594 2007
22
Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species. 61
17960124 2007
23
Effect of varying levels of fatty acids from palm oil on feed intake and milk production in Holstein cows. 61
17235176 2007
24
Expression analysis of IGFBP-rP10, IGFBP-like and Mig30 in early Xenopus development. 61
16894599 2006
25
Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? 61
16936083 2006
26
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. 61
16214101 2005
27
CD20 mimicry by a mAb rituximab-specific linear peptide: a potential tool for active immunotherapy of autoimmune diseases. 61
16127008 2005
28
Role of a new member of IGFBP superfamily, IGFBP-rP10, in proliferation and differentiation of osteoblastic cells. 61
15555553 2004
29
On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa. 61
14981049 2004
30
[Applicability of semi-automated kinetic perimetry (SKP) in the assessment of the visual field loss due to retinitis pigmentosa]. 61
15636249 2004
31
Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken. 61
12847422 2003
32
Identification of specific Hep G2 cell binding regions in Plasmodium falciparum sporozoite-threonine-asparagine-rich protein (STARP). 61
12744871 2003
33
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. 61
15180241 2003
34
Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q. 61
10706894 2000
35
The MET3 promoter: a new tool for Candida albicans molecular genetics. 61
10564518 1999
36
The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1. 61
9299241 1997
37
Emergence of Cu(++)-tolerant mutants defective in gellan synthesis in Cu(++)-stressed cultures of Sphingomonas paucimobilis. 61
9765805 1997
38
Reversible injury: creatinine kinase recovery restores bioenergetics and function. 61
8606495 1996
39
Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. 61
8571961 1996
40
[The human genome--chromosome 7]. 61
7758076 1995
41
Structure and regulation of a Candida albicans RP10 gene which encodes an immunogenic protein homologous to Saccharomyces cerevisiae ribosomal protein 10. 61
7868597 1995
42
Conservation of the Plasmodium falciparum sporozoite surface protein gene, STARP, in field isolates and distinct species of Plasmodium. 61
7870130 1994
43
A comparison of the CPAP performance characteristics of the Puritan-Bennett 7200a and a prototype continuous pressure-regulating ventilator. 61
10145988 1994
44
Responses of T cells from sensitized donors to recombinant and synthetic peptides corresponding to sequences of the Plasmodium falciparum SERP antigen. 61
1704344 1990
45
Characterization of an amber mutation in the structural gene for ribosomal protein L15, which impairs the expression of the protein export gene, secY, in Escherichia coli. 61
6389119 1984

Variations for Retinitis Pigmentosa 10

ClinVar genetic disease variations for Retinitis Pigmentosa 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IMPDH1 NM_000883.4(IMPDH1):c.1057G>A (p.Val353Ile) SNV Pathogenic 14835 rs121912551 GRCh37: 7:128038485-128038485
GRCh38: 7:128398431-128398431
2 IMPDH1 NM_000883.4(IMPDH1):c.926G>C (p.Arg309Pro) SNV Pathogenic 14836 rs121912552 GRCh37: 7:128038616-128038616
GRCh38: 7:128398562-128398562
3 IMPDH1 NM_000883.4(IMPDH1):c.984G>C (p.Gln328His) SNV Pathogenic 254167 rs886037911 GRCh37: 7:128038558-128038558
GRCh38: 7:128398504-128398504
4 IMPDH1 NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) SNV Pathogenic 14834 rs121912550 GRCh37: 7:128038611-128038611
GRCh38: 7:128398557-128398557
5 IMPDH1 NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile) SNV Uncertain significance 560464 rs564132747 GRCh37: 7:128035060-128035060
GRCh38: 7:128395006-128395006
6 IMPDH1 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) SNV Uncertain significance 193819 rs72624961 GRCh37: 7:128037043-128037043
GRCh38: 7:128396989-128396989
7 IMPDH1 NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser) SNV Uncertain significance 829898 rs1312955440 GRCh37: 7:128034562-128034562
GRCh38: 7:128394508-128394508

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 10:

72
# Symbol AA change Variation ID SNP ID
1 IMPDH1 p.Arg224Pro VAR_017031
2 IMPDH1 p.Asp226Asn VAR_017032
3 IMPDH1 p.Val268Ile VAR_017033
4 IMPDH1 p.Thr116Met VAR_065617
5 IMPDH1 p.His372Pro VAR_065621

Expression for Retinitis Pigmentosa 10

Search GEO for disease gene expression data for Retinitis Pigmentosa 10.

Pathways for Retinitis Pigmentosa 10

Pathways related to Retinitis Pigmentosa 10 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1 12.38 PTPRC IL2 CD8A CD28
2
Show member pathways
12.22 PTPRC IL2 CD4 CD28
3
Show member pathways
12.17 PTPRC IL2 CSF2 CD8A CD4 CD28
4 11.95 PTPRC CD8A CD4 CD28
5
Show member pathways
11.79 IL2 CD8A CD4
6 11.72 CSF2 CD8A CD4
7
Show member pathways
11.66 PTPRC CD8A CD4 CD28
8
Show member pathways
11.58 IL2 CD4 CD28
9 11.54 CD8A CD4 CD28
10 11.46 PTPRC IL2 CD8A CD4
11 11.33 IL2 CD4 CD28
12 11.3 PTPRC ITGAX IL2 CSF2 CD8A CD4
13 11.29 PTPRC ITGAX IL2 CSF2 CD8A CD69
14 11.21 PTPRC CD8A CD4
15 11.1 IL2 CD8A CD28
16 11.04 IL2 CSF2 CD4
17 10.99 IL2 CD4 CD28

GO Terms for Retinitis Pigmentosa 10

Cellular components related to Retinitis Pigmentosa 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.35 PTPRC ITGAX CD4 CD28 AOC3
2 external side of plasma membrane GO:0009897 9.1 PTPRC ITGAX CD8A CD69 CD4 CD28

Biological processes related to Retinitis Pigmentosa 10 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.83 IL2 CSF2 CD8A CD4 CD28
2 cytokine-mediated signaling pathway GO:0019221 9.8 ITGAX IL2 CSF2 CD4
3 cell surface receptor signaling pathway GO:0007166 9.72 PTPRC KLRG1 CD8A CD4 CD28
4 T cell differentiation GO:0030217 9.54 PTPRC IL2 CD4
5 regulation of regulatory T cell differentiation GO:0045589 9.51 IL2 CD28
6 cellular response to granulocyte macrophage colony-stimulating factor stimulus GO:0097011 9.48 CSF2 CD4
7 negative thymic T cell selection GO:0045060 9.46 PTPRC CD28
8 positive regulation of T cell proliferation GO:0042102 9.46 PTPRC IL2 CD4 CD28
9 positive regulation of interleukin-2 production GO:0032743 9.43 PTPRC CD4 CD28
10 positive regulation of alpha-beta T cell proliferation GO:0046641 9.4 PTPRC CD28
11 positive regulation of isotype switching to IgG isotypes GO:0048304 9.13 PTPRC IL2 CD28
12 T cell activation GO:0042110 8.92 PTPRC CD8A CD4 CD28

Molecular functions related to Retinitis Pigmentosa 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 8.8 CD8A CD4 CD28

Sources for Retinitis Pigmentosa 10

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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