RP27
MCID: RTN131
MIFTS: 36

Retinitis Pigmentosa 27 (RP27)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 27

MalaCards integrated aliases for Retinitis Pigmentosa 27:

Name: Retinitis Pigmentosa 27 58 12 76 30 13 6 15 74
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 30 13 6
Rp27 58 12 76
Retinal Degeneration Autosomal Recessive Clumped Pigment Type 76
Clumped Pigmentary Retinal Degeneration 76
Retinitis Pigmentosa, Type 27 41
Rdcp 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
retinitis pigmentosa 27:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Retinitis Pigmentosa 27

UniProtKB/Swiss-Prot : 76 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 retinal degeneration, autosomal recessive, clumped pigment type, is related to retinal degeneration and goldmann-favre syndrome. An important gene associated with Retinitis Pigmentosa 27 is NRL (Neural Retina Leucine Zipper), and among its related pathways/superpathways are Oncogenic MAPK signaling and TGF-beta Signaling Pathway (WikiPathways). Affiliated tissues include eye and kidney, 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.

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
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 retinal degeneration 10.5
2 goldmann-favre syndrome 10.4
3 retinitis pigmentosa 10.2
4 enhanced s-cone syndrome 10.2
5 leber congenital amaurosis 4 10.2
6 retinitis 10.2

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 macular edema 33 occasional (7.5%) HP:0040049
2 visual impairment 33 HP:0000505
3 blindness 33 HP:0000618
4 pallor 33 HP:0000980
5 nyctalopia 33 HP:0000662
6 rod-cone dystrophy 33 HP:0000510
7 peripapillary chorioretinal atrophy 33 HP:0007950
8 macular atrophy 33 HP:0007401
9 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
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

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 30 NRL
2 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 30

Anatomical Context for Retinitis Pigmentosa 27

MalaCards organs/tissues related to Retinitis Pigmentosa 27:

42
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
4
Clinical and histopathologic findings in clumped pigmentary retinal degeneration. ( 8694730 )
1996

Variations for Retinitis Pigmentosa 27

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

76
# 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

ClinVar genetic disease variations for Retinitis Pigmentosa 27:

6 (show all 12)
# 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_006177.3(NRL): c.148T> A (p.Ser50Thr) single nucleotide variant Pathogenic rs104894459 GRCh38 Chromosome 14, 24082701: 24082701
3 NRL NM_006177.4(NRL): c.223dup (p.Leu75Profs) duplication Pathogenic rs763191889 GRCh37 Chromosome 14, 24551835: 24551835
4 NRL NM_006177.4(NRL): c.223dup (p.Leu75Profs) duplication Pathogenic rs763191889 GRCh38 Chromosome 14, 24082626: 24082626
5 NRL NM_006177.4(NRL): c.479T> C (p.Leu160Pro) single nucleotide variant Pathogenic rs104894463 GRCh37 Chromosome 14, 24550680: 24550680
6 NRL NM_006177.4(NRL): c.479T> C (p.Leu160Pro) single nucleotide variant Pathogenic rs104894463 GRCh38 Chromosome 14, 24081471: 24081471
7 NRL NM_006177.3(NRL): c.287T> C (p.Met96Thr) single nucleotide variant Pathogenic rs397514516 GRCh37 Chromosome 14, 24551771: 24551771
8 NRL NM_006177.3(NRL): c.287T> C (p.Met96Thr) single nucleotide variant Pathogenic rs397514516 GRCh38 Chromosome 14, 24082562: 24082562
9 NRL NM_006177.4(NRL): c.104dup (p.Thr36Tyrfs) duplication Pathogenic GRCh38 Chromosome 14, 24082745: 24082745
10 NRL NM_006177.4(NRL): c.104dup (p.Thr36Tyrfs) duplication Pathogenic GRCh37 Chromosome 14, 24551954: 24551954
11 NRL NM_006177.4(NRL): c.339C> G (p.Tyr113Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 24082510: 24082510
12 NRL NM_006177.4(NRL): c.339C> G (p.Tyr113Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 24551719: 24551719

Expression for Retinitis Pigmentosa 27

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

Pathways for Retinitis Pigmentosa 27

Pathways related to Retinitis Pigmentosa 27 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.29 FN1 MAP2K2
2 11.08 FN1 MAP2K2
3 10.27 FN1 MAP2K2

GO Terms for Retinitis Pigmentosa 27

Molecular functions related to Retinitis Pigmentosa 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 FN1 ZP3

Sources for Retinitis Pigmentosa 27

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
Content
Loading form....