RP10
MCID: RTN150
MIFTS: 45

Retinitis Pigmentosa 10 (RP10)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 10

MalaCards integrated aliases for Retinitis Pigmentosa 10:

Name: Retinitis Pigmentosa 10 58 12 76 30 13 6 15 74
Rp10 58 12 76
Retinitis Pigmentosa, Type 10 41

Characteristics:

OMIM:

58
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:

33
retinitis pigmentosa 10:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110388
OMIM 58 180105
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1867299
UMLS 74 C1867299

Summaries for Retinitis Pigmentosa 10

OMIM : 58 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)

MalaCards based summary : Retinitis Pigmentosa 10, also known as rp10, is related to retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 10 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1), and among its related pathways/superpathways are purine nucleotides de novo biosynthesis and Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Liraglutide and Metformin have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and retina, 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 : 76 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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 retinitis 31.1 IMPDH1 RHO RP9
2 retinitis pigmentosa 30.4 CRX IMPDH1 IMPDH2 PLIN2 RHO RP9
3 leber congenital amaurosis 4 10.5
4 retinitis pigmentosa 6 10.3 RHO RP9
5 retinitis pigmentosa 13 10.3 IMPDH1 RP9
6 retinitis pigmentosa 7 10.2 RHO RP9
7 usher syndrome, type i 10.2 ASB10 IMPDH1 RHO
8 stargardt disease 1 10.2 CRX RHO
9 retinitis pigmentosa 18 10.2 IMPDH1 RP9
10 retinitis pigmentosa 9 10.1 IMPDH1 PGK1 RP9
11 retinal disease 10.1 CRX IMPDH1 RHO
12 cone-rod dystrophy 9 10.1 CRX PLIN2
13 retinitis pigmentosa 1 10.1
14 placental choriocarcinoma 9.8 PLIN2 SLC6A4
15 leber congenital amaurosis 9.8 CRX HSP90AA1 IMPDH1 RHO

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 very rare (1%) HP:0007663
2 posterior subcapsular cataract 33 very rare (1%) HP:0007787
3 nyctalopia 33 HP:0000662
4 rod-cone dystrophy 33 HP:0000510
5 optic disc pallor 33 HP:0000543
6 constriction of peripheral visual field 33 HP:0001133
7 undetectable light- and dark-adapted electroretinogram 33 HP:0007688
8 bone spicule pigmentation of the retina 33 HP:0007737

Symptoms via clinical synopsis from OMIM:

58
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

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 10 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.88 ASB10 BMP2 CFTR CRX DGKI GRM8

MGI Mouse Phenotypes related to Retinitis Pigmentosa 10:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.28 BMP2 CFTR HABP2 HPRT1 HSP90AA1 IMPDH1

Drugs & Therapeutics for Retinitis Pigmentosa 10

Drugs for Retinitis Pigmentosa 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 3 204656-20-2 44147092
2
Metformin Approved Phase 3 657-24-9 14219 4091
3
Glucagon Approved Phase 3 16941-32-5
4 Hormones Phase 3
5 Hypoglycemic Agents Phase 3
6 Hormone Antagonists Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Glucagon-Like Peptide 1 Phase 3
9 Incretins Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Combined Liraglutide and Metformin Therapy in Women With Previous Gestational Diabetes Mellitus (GDM) Active, not recruiting NCT01234649 Phase 3 Metformin XR plus placebo;Metformin XR plus liraglutide

Search 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 30 IMPDH1

Anatomical Context for Retinitis Pigmentosa 10

MalaCards organs/tissues related to Retinitis Pigmentosa 10:

42
Bone, Eye, Retina

Publications for Retinitis Pigmentosa 10

Articles related to Retinitis Pigmentosa 10:

(show all 16)
# Title Authors Year
1
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population. ( 26720483 )
2015
2
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. ( 21791244 )
2011
3
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. ( 20238057 )
2010
4
Protection of photoreceptors in a mouse model of RP10. ( 20238059 )
2010
5
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). ( 18385099 )
2008
6
Expression analysis of IGFBP-rP10, IGFBP-like and Mig30 in early Xenopus development. ( 16894599 )
2006
7
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. ( 16671097 )
2006
8
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. ( 15851576 )
2005
9
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. ( 16214101 )
2005
10
Role of a new member of IGFBP superfamily, IGFBP-rP10, in proliferation and differentiation of osteoblastic cells. ( 15555553 )
2004
11
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. ( 15180241 )
2003
12
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. ( 11875049 )
2002
13
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. ( 11875050 )
2002
14
Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. ( 8723719 )
1996
15
Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. ( 7814030 )
1995
16
Structure and regulation of a Candida albicans RP10 gene which encodes an immunogenic protein homologous to Saccharomyces cerevisiae ribosomal protein 10. ( 7868597 )
1995

Variations for Retinitis Pigmentosa 10

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

76
# 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

ClinVar genetic disease variations for Retinitis Pigmentosa 10:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 IMPDH1 NM_000883.3(IMPDH1): c.931G> A (p.Asp311Asn) single nucleotide variant Pathogenic rs121912550 GRCh37 Chromosome 7, 128038611: 128038611
2 IMPDH1 NM_000883.3(IMPDH1): c.931G> A (p.Asp311Asn) single nucleotide variant Pathogenic rs121912550 GRCh38 Chromosome 7, 128398557: 128398557
3 IMPDH1 NM_000883.3(IMPDH1): c.1057G> A (p.Val353Ile) single nucleotide variant Pathogenic rs121912551 GRCh37 Chromosome 7, 128038485: 128038485
4 IMPDH1 NM_000883.3(IMPDH1): c.1057G> A (p.Val353Ile) single nucleotide variant Pathogenic rs121912551 GRCh38 Chromosome 7, 128398431: 128398431
5 IMPDH1 NM_000883.3(IMPDH1): c.926G> C (p.Arg309Pro) single nucleotide variant Pathogenic rs121912552 GRCh37 Chromosome 7, 128038616: 128038616
6 IMPDH1 NM_000883.3(IMPDH1): c.926G> C (p.Arg309Pro) single nucleotide variant Pathogenic rs121912552 GRCh38 Chromosome 7, 128398562: 128398562
7 IMPDH1 NM_000883.3(IMPDH1): c.1108G> A (p.Ala370Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72624961 GRCh37 Chromosome 7, 128037043: 128037043
8 IMPDH1 NM_000883.3(IMPDH1): c.1108G> A (p.Ala370Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs72624961 GRCh38 Chromosome 7, 128396989: 128396989
9 IMPDH1 NM_000883.3(IMPDH1): c.984G> C (p.Gln328His) single nucleotide variant Pathogenic rs886037911 GRCh37 Chromosome 7, 128038558: 128038558
10 IMPDH1 NM_000883.3(IMPDH1): c.984G> C (p.Gln328His) single nucleotide variant Pathogenic rs886037911 GRCh38 Chromosome 7, 128398504: 128398504
11 IMPDH1 NM_000883.3(IMPDH1): c.1433C> T (p.Thr478Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 128395006: 128395006
12 IMPDH1 NM_000883.3(IMPDH1): c.1433C> T (p.Thr478Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 128035060: 128035060

Expression for Retinitis Pigmentosa 10

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

Pathways for Retinitis Pigmentosa 10

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 ficolin-1-rich granule lumen GO:1904813 9.43 HSP90AA1 IMPDH1 IMPDH2
2 cytosol GO:0005829 9.36 ASB10 CFTR DGKI HPRT1 HSP90AA1 IMPDH1
3 Golgi-associated vesicle membrane GO:0030660 9.16 CFTR RHO
4 secretory granule lumen GO:0034774 9.13 HSP90AA1 IMPDH1 IMPDH2

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

# Name GO ID Score Top Affiliating Genes
1 circadian rhythm GO:0007623 9.5 CRX IMPDH2 SLC6A4
2 regulation of synaptic transmission, glutamatergic GO:0051966 9.4 DGKI GRM8
3 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.37 IMPDH1 IMPDH2
4 GTP biosynthetic process GO:0006183 9.26 IMPDH1 IMPDH2
5 GMP biosynthetic process GO:0006177 9.16 IMPDH1 IMPDH2
6 purine nucleotide biosynthetic process GO:0006164 9.13 HPRT1 IMPDH1 IMPDH2
7 lymphocyte proliferation GO:0046651 8.8 HPRT1 IMPDH1 IMPDH2

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.26 HPRT1 HSP90AA1 IMPDH1 IMPDH2
2 IMP dehydrogenase activity GO:0003938 8.62 IMPDH1 IMPDH2

Sources for Retinitis Pigmentosa 10

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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