MCID: RTN041
MIFTS: 31

Retinitis Pigmentosa 11

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 11

MalaCards integrated aliases for Retinitis Pigmentosa 11:

Name: Retinitis Pigmentosa 11 57 12 53 75 29 13 6 15 73
Rp11 57 12 75
Retinitis Pigmentosa, Type 11 40
Rp 11 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance


HPO:

32
retinitis pigmentosa 11:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 600138
Disease Ontology 12 DOID:0110408
ICD10 33 H35.5
MedGen 42 C1838601
MeSH 44 D012174
UMLS 73 C1838601

Summaries for Retinitis Pigmentosa 11

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa 11: 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 11, also known as rp11, is related to retinitis and dyskinesia of esophagus. An important gene associated with Retinitis Pigmentosa 11 is PRPF31 (Pre-MRNA Processing Factor 31). The drugs Drospirenone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include ovary and eye, and related phenotypes are rod-cone dystrophy and blindness

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPF31 gene on chromosome 19q13.

OMIM : 57 Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment. For a discussion of genetic heterogeneity of RP, see 268000. (600138)

Related Diseases for Retinitis Pigmentosa 11

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

# Related Disease Score Top Affiliating Genes
1 retinitis 10.4
2 dyskinesia of esophagus 10.4 RP9 UBTF
3 retinitis pigmentosa 10.4
4 leber congenital amaurosis 4 10.4
5 retinitis pigmentosa 13 10.3 PRPF31 RP9
6 retinitis pigmentosa 18 10.1 PRPF31 RP9

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 11:



Diseases related to Retinitis Pigmentosa 11

Symptoms & Phenotypes for Retinitis Pigmentosa 11

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa
night blindness (onset in teens)
blindness (onset in 30s)
posterior subcapsular lens opacities (in some patients)
macular edema (in some patients)
more

Clinical features from OMIM:

600138

Human phenotypes related to Retinitis Pigmentosa 11:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 blindness 32 HP:0000618
3 nyctalopia 32 HP:0000662
4 macular atrophy 32 occasional (7.5%) HP:0007401
5 macular edema 32 occasional (7.5%) HP:0040049

Drugs & Therapeutics for Retinitis Pigmentosa 11

Drugs for Retinitis Pigmentosa 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Drospirenone Approved Phase 4 67392-87-4 68873
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
4
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
7
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
8 Calcium, Dietary Phase 4
9 Contraceptive Agents Phase 4
10 Contraceptives, Oral Phase 4
11 diuretics Phase 4
12 Diuretics, Potassium Sparing Phase 4
13 Estradiol 17 beta-cypionate Phase 4
14 Estradiol 3-benzoate Phase 4
15 Hematinics Phase 4
16 Hormone Antagonists Phase 4
17 Hormones Phase 4
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
19 Micronutrients Phase 4
20 Mineralocorticoid Receptor Antagonists Phase 4
21 Mineralocorticoids Phase 4
22 Natriuretic Agents Phase 4
23 Trace Elements Phase 4
24 Vitamin B Complex Phase 4
25 Vitamins Phase 4
26 Folate Nutraceutical Phase 4
27 Vitamin B9 Nutraceutical Phase 4
28 Pharmaceutical Solutions Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4 3 mg DRSP/20 μg EE
2 Mepolizumab in Chronic Obstructive Pulmonary Diseases (COPD) With Eosinophilic Bronchitis Completed NCT01463644 Phase 3 Mepolizumab;placebo

Search NIH Clinical Center for Retinitis Pigmentosa 11

Genetic Tests for Retinitis Pigmentosa 11

Genetic tests related to Retinitis Pigmentosa 11:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 11 29 PRPF31

Anatomical Context for Retinitis Pigmentosa 11

MalaCards organs/tissues related to Retinitis Pigmentosa 11:

41
Ovary, Eye

Publications for Retinitis Pigmentosa 11

Variations for Retinitis Pigmentosa 11

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 11:

75
# Symbol AA change Variation ID SNP ID
1 PRPF31 p.Ala194Glu VAR_025630 rs119475043
2 PRPF31 p.Ala216Pro VAR_025631 rs119475042

ClinVar genetic disease variations for Retinitis Pigmentosa 11:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPF31 NM_015629.3(PRPF31): c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs) deletion Pathogenic rs587776589 GRCh37 Chromosome 19, 54631721: 54631731
2 PRPF31 NM_015629.3(PRPF31): c.646G> C (p.Ala216Pro) single nucleotide variant Pathogenic rs119475042 GRCh37 Chromosome 19, 54627246: 54627246
3 PRPF31 NM_015629.3(PRPF31): c.646G> C (p.Ala216Pro) single nucleotide variant Pathogenic rs119475042 GRCh38 Chromosome 19, 54123867: 54123867
4 PRPF31 NM_015629.3(PRPF31): c.1115_1125delGGAAGCAGGCC (p.Arg372Glnfs) deletion Pathogenic rs587776589 GRCh38 Chromosome 19, 54128346: 54128356
5 PRPF31 NM_015629.3(PRPF31): c.527+3A> G single nucleotide variant Pathogenic rs587776590 GRCh38 Chromosome 19, 54123563: 54123563
6 PRPF31 NM_015629.3(PRPF31): c.527+3A> G single nucleotide variant Pathogenic rs587776590 GRCh37 Chromosome 19, 54626942: 54626942
7 PRPF31 PRPF31, IVS6AS, 42-BP DEL, -3 deletion Pathogenic
8 PRPF31 NM_015629.3(PRPF31): c.581C> A (p.Ala194Glu) single nucleotide variant Pathogenic rs119475043 GRCh37 Chromosome 19, 54627181: 54627181
9 PRPF31 NM_015629.3(PRPF31): c.581C> A (p.Ala194Glu) single nucleotide variant Pathogenic rs119475043 GRCh38 Chromosome 19, 54123802: 54123802
10 PRPF31 PRPF31, 33-BP INS, NT580 insertion Pathogenic
11 PRPF31 PRPF31, 1-BP INS, 769A insertion Pathogenic
12 PRPF31 PRPF31, 12-BP DEL deletion Pathogenic
13 PRPF31 NM_015629.3(PRPF31): c.1374+654C> G single nucleotide variant Pathogenic rs587776591 GRCh38 Chromosome 19, 54130024: 54130024
14 PRPF31 NM_015629.3(PRPF31): c.1374+654C> G single nucleotide variant Pathogenic rs587776591 GRCh37 Chromosome 19, 54633399: 54633399
15 PRPF31 NM_015629.3(PRPF31): c.1273C> T (p.Gln425Ter) single nucleotide variant Pathogenic rs727504107 GRCh37 Chromosome 19, 54632558: 54632558
16 PRPF31 NM_015629.3(PRPF31): c.1273C> T (p.Gln425Ter) single nucleotide variant Pathogenic rs727504107 GRCh38 Chromosome 19, 54129183: 54129183
17 PRPF31 NM_015629.3(PRPF31): c.1073+1G> A single nucleotide variant Pathogenic rs794727001 GRCh37 Chromosome 19, 54631576: 54631576
18 PRPF31 NM_015629.3(PRPF31): c.1073+1G> A single nucleotide variant Pathogenic rs794727001 GRCh38 Chromosome 19, 54128201: 54128201
19 PRPF31 NM_015629.3(PRPF31): c.527+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs376994481 GRCh37 Chromosome 19, 54626948: 54626948
20 PRPF31 NM_015629.3(PRPF31): c.527+9G> T single nucleotide variant Conflicting interpretations of pathogenicity rs376994481 GRCh38 Chromosome 19, 54123569: 54123569
21 PRPF31 NM_015629.3(PRPF31): c.973G> T (p.Glu325Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 54631475: 54631475
22 PRPF31 NM_015629.3(PRPF31): c.973G> T (p.Glu325Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 54128100: 54128100
23 PRPF31 NM_015629.3(PRPF31): c.1007C> G (p.Pro336Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 54631509: 54631509
24 PRPF31 NM_015629.3(PRPF31): c.1007C> G (p.Pro336Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 54128134: 54128134

Expression for Retinitis Pigmentosa 11

Search GEO for disease gene expression data for Retinitis Pigmentosa 11.

Pathways for Retinitis Pigmentosa 11

GO Terms for Retinitis Pigmentosa 11

Sources for Retinitis Pigmentosa 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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