MCID: RTN131
MIFTS: 33

Retinitis Pigmentosa 27

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 27

MalaCards integrated aliases for Retinitis Pigmentosa 27:

Name: Retinitis Pigmentosa 27 53 12 71 28 13 14 69
Rp27 53 12 71
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 28 13
Retinal Degeneration Autosomal Recessive Clumped Pigment Type 71
Clumped Pigmentary Retinal Degeneration 71
Rdcp 71

Characteristics:

OMIM:

53
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:

OMIM 53 613750
Disease Ontology 12 DOID:0110397
ICD10 32 H35.5
UMLS 69 C1834329

Summaries for Retinitis Pigmentosa 27

UniProtKB/Swiss-Prot : 71 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 and retinal degeneration, and has symptoms including visual impairment, nyctalopia and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 27 is NRL (Neural Retina Leucine Zipper). Affiliated tissues include eye and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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

Description from OMIM: 613750

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 27 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis 10.3
2 retinal degeneration 10.3
3 goldmann-favre syndrome 10.2
4 retinitis pigmentosa 10.1
5 enhanced s-cone syndrome 10.1
6 leber congenital amaurosis 4 10.1

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



Diseases related to Retinitis Pigmentosa 27

Symptoms & Phenotypes for Retinitis Pigmentosa 27

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
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
optic disc pallor in fourth decade of life
more

Clinical features from OMIM:

613750

Human phenotypes related to Retinitis Pigmentosa 27:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 macular edema 31 occasional (7.5%) HP:0040049
5 chorioretinal atrophy 31 HP:0000533
6 peripapillary chorioretinal atrophy 31 HP:0007950
7 undetectable electroretinogram 31 HP:0000550

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 27 according to GeneCards Suite gene sharing:

25 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 CD59 NRL ZP3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.72 NRL
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.72 CD59
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.72 NRL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-136 9.72 CD59
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.72 NRL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.72 CD59
8 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.72 CD59
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 CD59
10 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.72 ZP3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.72 NRL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.72 NRL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.72 ZP3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.72 NRL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 CD59
16 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.72 NRL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.72 NRL
18 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.72 NRL
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.72 ZP3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.72 CD59
21 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.72 NRL
22 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.72 CD59
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 CD59

Drugs & Therapeutics for Retinitis Pigmentosa 27

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Energy Expenditure in Chronic Kidney Disease Completed NCT03358966

Search 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 28 NRL
2 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 28

Anatomical Context for Retinitis Pigmentosa 27

MalaCards organs/tissues related to Retinitis Pigmentosa 27:

38
Eye, Kidney

Publications for Retinitis Pigmentosa 27

Articles related to Retinitis Pigmentosa 27:

# Title Authors Year
1
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP). ( 19718767 )
2009
2
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. ( 15591106 )
2004
3
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. ( 12963616 )
2003

Variations for Retinitis Pigmentosa 27

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

71
# 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
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

ClinVar genetic disease variations for Retinitis Pigmentosa 27:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NRL NM_006177.3(NRL): c.148T> A (p.Ser50Thr) single nucleotide variant Pathogenic rs104894459 GRCh37 Chromosome 14, 24551910: 24551910
2 NRL NM_006177.4(NRL): c.223dup (p.Leu75Profs) duplication Pathogenic rs763191889 GRCh37 Chromosome 14, 24551835: 24551835
3 NRL NM_006177.4(NRL): c.479T> C (p.Leu160Pro) single nucleotide variant Pathogenic rs104894463 GRCh37 Chromosome 14, 24550680: 24550680
4 NRL NM_006177.3(NRL): c.287T> C (p.Met96Thr) single nucleotide variant Pathogenic rs397514516 GRCh37 Chromosome 14, 24551771: 24551771
5 NRL NM_006177.3(NRL): c.151C> T (p.Pro51Ser) single nucleotide variant Pathogenic rs794727281 GRCh37 Chromosome 14, 24551907: 24551907

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
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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