RP27
MCID: RTN131
MIFTS: 33

Retinitis Pigmentosa 27 (RP27)

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

Aliases & Classifications for Retinitis Pigmentosa 27

MalaCards integrated aliases for Retinitis Pigmentosa 27:

Name: Retinitis Pigmentosa 27 57 12 72 29 13 6 15 70
Rp27 57 12 72
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 29 6
Retinal Degeneration Autosomal Recessive Clumped Pigment Type 72
Clumped Pigmentary Retinal Degeneration 72
Retinitis Pigmentosa, Type 27 39
Rdcp 72

Characteristics:

OMIM®:

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

Miscellaneous:
some patients have milder phenotype with later onset of symptoms, in second to third decades of life


HPO:

31
retinitis pigmentosa 27:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110397
OMIM® 57 613750
OMIM Phenotypic Series 57 PS268000
ICD10 32 H35.5
UMLS 70 C1834329

Summaries for Retinitis Pigmentosa 27

UniProtKB/Swiss-Prot : 72 Retinal degeneration autosomal recessive clumped pigment type: A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short- wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present.
Retinitis pigmentosa 27: 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 27, also known as rp27, is related to retinitis pigmentosa and retinal degeneration. An important gene associated with Retinitis Pigmentosa 27 is NRL (Neural Retina Leucine Zipper). Affiliated tissues include eye and retina, and related phenotypes are macular edema and visual impairment

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the NRL gene on chromosome 14q11.

More information from OMIM: 613750 PS268000

Related Diseases for Retinitis Pigmentosa 27

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.5
2 retinal degeneration 10.5
3 yemenite deaf-blind hypopigmentation syndrome 10.5
4 neuroretinitis 10.5
5 retinitis 10.5
6 night blindness 10.5
7 enhanced s-cone syndrome 10.4
8 retinitis pigmentosa 37 10.2
9 retinal vascular disease 10.2
10 refractive error 10.2
11 usher syndrome 9.7 NRL MIR4523 CERKL
12 retinitis pigmentosa 41 9.2 MIR8085 MIR671 MIR4523 MIR3655 MIR3615 MIR3198-1
13 usher syndrome, type ig 8.5 MIR8085 MIR7705 MIR671 MIR6084 MIR4721 MIR4523

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 27:



Diseases related to Retinitis Pigmentosa 27

Symptoms & Phenotypes for Retinitis Pigmentosa 27

Human phenotypes related to Retinitis Pigmentosa 27:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macular edema 31 occasional (7.5%) HP:0040049
2 visual impairment 31 HP:0000505
3 blindness 31 HP:0000618
4 pallor 31 HP:0000980
5 nyctalopia 31 HP:0000662
6 rod-cone dystrophy 31 HP:0000510
7 macular atrophy 31 HP:0007401
8 peripapillary chorioretinal atrophy 31 HP:0007950
9 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
macular edema (in some patients)
night blindness, with onset in first and second decades of life
loss of peripheral vision in third and fourth decades of life
decreased visual acuity in fourth decade of life
pigmentation in retinal periphery
more

Clinical features from OMIM®:

613750 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 27

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 27

Genetic Tests for Retinitis Pigmentosa 27

Genetic tests related to Retinitis Pigmentosa 27:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 27 29 NRL
2 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 29

Anatomical Context for Retinitis Pigmentosa 27

MalaCards organs/tissues related to Retinitis Pigmentosa 27:

40
Eye, Retina

Publications for Retinitis Pigmentosa 27

Articles related to Retinitis Pigmentosa 27:

(show all 16)
# Title Authors PMID Year
1
Novel p.M96T variant of NRL and shRNA-based suppression and replacement of NRL mutants associated with autosomal dominant retinitis pigmentosa. 57 6
21981118 2012
2
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. 6 57
15591106 2004
3
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. 57 6
12796249 2003
4
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. 57 6
11385710 2001
5
NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies. 57 6
11039579 2000
6
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. 57 6
10192380 1999
7
Next-generation genetic testing for retinitis pigmentosa. 6
22334370 2012
8
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. 6
17335001 2007
9
A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation. 6
17374726 2007
10
P27 (MBOV_RS03440) is a novel fibronectin binding adhesin of Mycoplasma bovis. 61
30076003 2018
11
Expression of HopAI interferes with MAP kinase signalling in Magnaporthe oryzae. 61
28799700 2017
12
Development of an antigen-capture ELISA for the detection of avian leukosis virus p27 antigen. 61
23201286 2013
13
Mirl is highly upregulated and localized to nuclei during infectious hyphal growth in the rice blast fungus. 61
17427815 2007
14
Immunization of mice with recombinant P27/30 protein confers protection against hard tick Haemaphysalis longicornis (Acari: Ixodidae) infestation. 61
15785123 2005
15
Cellular localization and role of kinase activity of PMK1 in Magnaporthe grisea. 61
15590826 2004
16
Isolation of ScFv antibodies of rP27( kip 1) from phage display libraries constructed from immunized and non-immunized repertoires. 61
18763128 1999

Variations for Retinitis Pigmentosa 27

ClinVar genetic disease variations for Retinitis Pigmentosa 27:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NRL NM_006177.5(NRL):c.479T>C (p.Leu160Pro) SNV Pathogenic 14044 rs104894463 GRCh37: 14:24550680-24550680
GRCh38: 14:24081471-24081471
2 NRL NM_006177.5(NRL):c.223dup (p.Leu75fs) Duplication Pathogenic 14043 rs763191889 GRCh37: 14:24551834-24551835
GRCh38: 14:24082625-24082626
3 NRL NM_006177.5(NRL):c.148T>A (p.Ser50Thr) SNV Pathogenic 14042 rs104894459 GRCh37: 14:24551910-24551910
GRCh38: 14:24082701-24082701
4 NRL NM_006177.5(NRL):c.287T>C (p.Met96Thr) SNV Pathogenic 39510 rs397514516 GRCh37: 14:24551771-24551771
GRCh38: 14:24082562-24082562
5 NRL NM_006177.5(NRL):c.104dup (p.Thr36fs) Duplication Pathogenic 560472 rs1566561006 GRCh37: 14:24551953-24551954
GRCh38: 14:24082744-24082745
6 NRL NM_001354768.3(NRL):c.654del (p.Cys219fs) Deletion Pathogenic 853152 GRCh37: 14:24550505-24550505
GRCh38: 14:24081296-24081296
7 NRL NM_006177.5(NRL):c.339C>G (p.Tyr113Ter) SNV Likely pathogenic 623368 rs1566560531 GRCh37: 14:24551719-24551719
GRCh38: 14:24082510-24082510
8 NRL NM_006177.5(NRL):c.711C>G (p.Leu237=) SNV Benign 167386 rs8009051 GRCh37: 14:24550448-24550448
GRCh38: 14:24081239-24081239

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 27:

72
# Symbol AA change Variation ID SNP ID
1 NRL p.Ser50Thr VAR_009268 rs104894459
2 NRL p.Leu160Pro VAR_064977 rs104894463
3 NRL p.Arg170Ser VAR_068364 rs117338539
4 NRL p.Ser50Leu VAR_079382
5 NRL p.Ser50Pro VAR_079383
6 NRL p.Pro51Leu VAR_079384
7 NRL p.Pro51Ser VAR_079385 rs794727281
8 NRL p.Pro51Thr VAR_079386
9 NRL p.Pro67Ser VAR_079387 rs199691910
10 NRL p.Met96Thr VAR_079389 rs397514516

Expression for Retinitis Pigmentosa 27

Search GEO for disease gene expression data for Retinitis Pigmentosa 27.

Pathways for Retinitis Pigmentosa 27

GO Terms for Retinitis Pigmentosa 27

Sources for Retinitis Pigmentosa 27

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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