MCID: RTN150
MIFTS: 34

Retinitis Pigmentosa 10

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 10

MalaCards integrated aliases for Retinitis Pigmentosa 10:

Name: Retinitis Pigmentosa 10 53 12 71 28 13 14 69
Rp10 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant form (7q31-q35)
most frequently autosomal recessive forms and least frequently x-linked recessive forms


HPO:

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


Classifications:



External Ids:

OMIM 53 180105
Disease Ontology 12 DOID:0110388
ICD10 32 H35.5
MedGen 39 C1867299
MeSH 41 D012174
UMLS 69 C1867299

Summaries for Retinitis Pigmentosa 10

UniProtKB/Swiss-Prot : 71 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.

MalaCards based summary : Retinitis Pigmentosa 10, also known as rp10, is related to retinitis and retinitis pigmentosa, and has symptoms including rod-cone dystrophy, nyctalopia and constriction of peripheral visual field. An important gene associated with Retinitis Pigmentosa 10 is IMPDH1 (Inosine Monophosphate Dehydrogenase 1). The drugs Liraglutide and Metformin have been mentioned in the context of this disorder. Affiliated tissues include bone, retina and eye.

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

Description from OMIM: 180105

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 Nonsyndromic Retinitis Pigmentosa

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 retinitis 30.0 IMPDH1 RHO RP9
2 retinitis pigmentosa 29.6 IMPDH1 RHO RP9
3 leber congenital amaurosis 4 10.3
4 retinitis pigmentosa 9 10.0 IMPDH1 RP9
5 retinitis pigmentosa 13 10.0 IMPDH1 RP9
6 retinitis pigmentosa 6 10.0 RHO RP9
7 retinitis pigmentosa 1 9.9 IMPDH1 RHO
8 retinitis pigmentosa 18 9.9 IMPDH1 RP9
9 retinitis pigmentosa 7 9.9 RHO RP9
10 leber congenital amaurosis 9.6 IMPDH1 RHO
11 usher syndrome, type i 9.4 ASB10 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

Symptoms via clinical synopsis from OMIM:

53
Eyes:
retinitis pigmentosa
constricted visual fields
night blindness
retinal 'bone corpuscle' pigmentation

Lab:
absent cone and rod functions by electroretinogram (erg)

Misc:
dominant inheritance form(s) in 3 to 4% of cases
early onset (mean age 12.9 years)


Clinical features from OMIM:

180105

Human phenotypes related to Retinitis Pigmentosa 10:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
3 constriction of peripheral visual field 31 HP:0001133
4 undetectable light- and dark-adapted electroretinogram 31 HP:0007688
5 bone spicule pigmentation of the retina 31 HP:0007737

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 4091 14219
3 glucagon Phase 3
4 Glucagon-Like Peptide 1 Phase 3
5 Hormone Antagonists Phase 3
6 Hormones Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8 Hypoglycemic Agents 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 28 IMPDH1

Anatomical Context for Retinitis Pigmentosa 10

MalaCards organs/tissues related to Retinitis Pigmentosa 10:

38
Bone, Retina, Eye

Publications for Retinitis Pigmentosa 10

Articles related to Retinitis Pigmentosa 10:

# Title Authors Year
1
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
2
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. ( 20238057 )
2010
3
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10). ( 18385099 )
2008
4
Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. ( 16214101 )
2005
5
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP. ( 15180241 )
2003
6
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. ( 11875050 )
2002
7
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
8
Mapping the RP10 locus for autosomal dominant retinitis pigmentosa on 7q: refined genetic positioning and localization within a well-defined YAC contig. ( 8723719 )
1996
9
Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family. ( 7814030 )
1995

Variations for Retinitis Pigmentosa 10

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

71
# 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
# 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.1057G> A (p.Val353Ile) single nucleotide variant Pathogenic rs121912551 GRCh37 Chromosome 7, 128038485: 128038485
3 IMPDH1 NM_000883.3(IMPDH1): c.926G> C (p.Arg309Pro) single nucleotide variant Pathogenic rs121912552 GRCh37 Chromosome 7, 128038616: 128038616
4 IMPDH1 NM_000883.3(IMPDH1): c.984G> C (p.Gln328His) single nucleotide variant Pathogenic rs886037911 GRCh37 Chromosome 7, 128038558: 128038558

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

Sources for Retinitis Pigmentosa 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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