LCA18
MCID: RTN069
MIFTS: 40

Retinitis Pigmentosa 7 (LCA18)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 7

MalaCards integrated aliases for Retinitis Pigmentosa 7:

Name: Retinitis Pigmentosa 7 58 12 54 76 30 13 6 15 74
Leber Congenital Amaurosis 18 58 76 30 6
Rp7 58 12 76
Retinitis Pigmentosa 7, Digenic 30 6
Retinitis Pigmentosa 7 and Digenic Form 58
Retinitis Pigmentosa 7, Digenic Form 58
Retinitis Pigmentosa 7 Digenic 76
Lca18 76
Rp 7 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
homozygous patients have earlier-onset and more severe disease


HPO:

33

Classifications:



Summaries for Retinitis Pigmentosa 7

UniProtKB/Swiss-Prot : 76 Leber congenital amaurosis 18: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. Retinitis pigmentosa 7: 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 7, also known as leber congenital amaurosis 18, is related to retinitis pigmentosa and cone-rod dystrophy 7. An important gene associated with Retinitis Pigmentosa 7 is PRPH2 (Peripherin 2), and among its related pathways/superpathways is the visual cycle I (vertebrates). Affiliated tissues include retina, eye and bone, and related phenotypes are chorioretinal atrophy and abnormal electroretinogram

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.

Description from OMIM: 608133

Related Diseases for Retinitis Pigmentosa 7

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.5 EML3 PRPH2 RHO ROM1 RP9
2 cone-rod dystrophy 7 11.3
3 butterfly-shaped pigment dystrophy 10.3 PRPH2 ROM1
4 stargardt macular degeneration 10.3 PRPH2 RHO
5 peripheral retinal degeneration 10.3 PRPH2 ROM1
6 retinitis pigmentosa 1 10.3 PRPH2 RHO
7 retinitis pigmentosa 6 10.3 RHO RP9
8 retinitis pigmentosa 10 10.2 RHO RP9
9 vitelliform macular dystrophy 10.2 PRPH2 ROM1
10 stargardt disease 1 10.2 RHO ROM1
11 stargardt disease 10.2 PRPH2 RHO
12 keratomalacia 10.2 RHO TTR
13 meningococcal infection 10.2 ROM1 TTR
14 retinal disease 10.1 PRPH2 RHO ROM1
15 al amyloidosis 10.1 B2M TTR
16 retinitis 10.1 PRPH2 RHO RP9
17 tibial neuropathy 10.1 B2M TTR
18 tarsal tunnel syndrome 10.1 B2M TTR
19 retinal degeneration 10.1 PRPH2 RHO ROM1
20 blind loop syndrome 10.1 SERPINA1 TTR
21 median rhomboid glossitis 10.1 B2M TTR
22 amyloid tumor 10.1 B2M TTR
23 fundus dystrophy 10.1 PRPH2 RHO ROM1
24 hereditary amyloidosis 10.1 B2M TTR
25 nerve compression syndrome 10.0 B2M TTR
26 amyloidosis aa 10.0 B2M TTR
27 acute retrobulbar neuritis 10.0 B2M RHO
28 testicular yolk sac tumor 10.0 SERPINA1 TTR
29 fundus albipunctatus 9.9 PRPH2 RHO
30 amyloidosis, familial visceral 9.9 B2M TTR
31 carpal tunnel syndrome 9.8 B2M TTR

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 7:



Diseases related to Retinitis Pigmentosa 7

Symptoms & Phenotypes for Retinitis Pigmentosa 7

Human phenotypes related to Retinitis Pigmentosa 7:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 chorioretinal atrophy 33 occasional (7.5%) HP:0000533
2 abnormal electroretinogram 33 HP:0000512
3 nyctalopia 33 HP:0000662
4 rod-cone dystrophy 33 HP:0000510
5 constriction of peripheral visual field 33 HP:0001133
6 pigmentary retinopathy 33 HP:0000580
7 attenuation of retinal blood vessels 33 HP:0007843
8 adult-onset night blindness 33 HP:0007830

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
night blindness
constricted visual fields
narrowed vessels
bone-spicule pigmentation in midperiphery of retina
pigment deposits in macular region
more

Clinical features from OMIM:

608133

Drugs & Therapeutics for Retinitis Pigmentosa 7

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 7

Genetic Tests for Retinitis Pigmentosa 7

Genetic tests related to Retinitis Pigmentosa 7:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 7 30 PRPH2 ROM1
2 Retinitis Pigmentosa 7, Digenic 30
3 Leber Congenital Amaurosis 18 30

Anatomical Context for Retinitis Pigmentosa 7

MalaCards organs/tissues related to Retinitis Pigmentosa 7:

42
Retina, Eye, Bone

Publications for Retinitis Pigmentosa 7

Articles related to Retinitis Pigmentosa 7:

(show all 14)
# Title Authors Year
1
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. ( 23847139 )
2013
2
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. ( 11297544 )
2001
3
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. ( 9443872 )
1998
4
Effects of PTH-rP(107-111) and PTH-rP(7-34) on adult cardiomyocytes. ( 9405180 )
1997
5
Synthesis, Structure, and Reactivities of [eta(2)-P(7)M(CO)(4)](3)(-), [eta(2)-HP(7)M(CO)(4)](2)(-), and [eta(2)-RP(7)M(CO)(4)](2)(-) Zintl Ion Complexes Where M = Mo, W. ( 11666370 )
1996
6
Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene. ( 7880786 )
1995
7
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa. ( 8019570 )
1994
8
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. ( 8020945 )
1994
9
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. ( 8202715 )
1994
10
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. ( 8485576 )
1993
11
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. ( 8240110 )
1993
12
Heterozygous 'null allele' mutation in the human peripherin/RDS gene. ( 8111389 )
1993
13
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. ( 1684223 )
1991
14
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. ( 1749427 )
1991

Variations for Retinitis Pigmentosa 7

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 7:

76 (show all 25)
# Symbol AA change Variation ID SNP ID
1 PRPH2 p.Arg13Trp VAR_006853
2 PRPH2 p.Leu45Phe VAR_006855 rs61755770
3 PRPH2 p.Leu126Arg VAR_006859
4 PRPH2 p.Arg142Trp VAR_006860
5 PRPH2 p.Lys153Arg VAR_006861
6 PRPH2 p.Cys165Tyr VAR_006864
7 PRPH2 p.Asp173Val VAR_006869
8 PRPH2 p.Leu185Pro VAR_006871
9 PRPH2 p.Gly208Asp VAR_006873
10 PRPH2 p.Pro210Arg VAR_006874
11 PRPH2 p.Pro210Ser VAR_006875
12 PRPH2 p.Phe211Leu VAR_006876
13 PRPH2 p.Ser212Gly VAR_006877
14 PRPH2 p.Cys214Ser VAR_006880
15 PRPH2 p.Pro216Leu VAR_006881
16 PRPH2 p.Pro216Ser VAR_006882
17 PRPH2 p.Asn244Lys VAR_006887
18 PRPH2 p.Gly266Asp VAR_006889
19 PRPH2 p.Leu126Pro VAR_075759
20 PRPH2 p.Tyr141Cys VAR_075761
21 PRPH2 p.Ser198Arg VAR_075762
22 PRPH2 p.Pro210Leu VAR_075764
23 PRPH2 p.Pro216Ala VAR_075765
24 PRPH2 p.Pro216Arg VAR_075766
25 PRPH2 p.Gly249Ser VAR_075768

ClinVar genetic disease variations for Retinitis Pigmentosa 7:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROM1 NM_000327.3(ROM1): c.239dup (p.Val81Cysfs) duplication Pathogenic rs1387102485 GRCh38 Chromosome 11, 62613520: 62613520
2 ROM1 NM_000327.3(ROM1): c.239dup (p.Val81Cysfs) duplication Pathogenic rs1387102485 GRCh37 Chromosome 11, 62380992: 62380992
3 ROM1 NM_000327.3(ROM1): c.339dup (p.Leu114Alafs) duplication Pathogenic rs71458427 GRCh38 Chromosome 11, 62613620: 62613620
4 ROM1 NM_000327.3(ROM1): c.339dup (p.Leu114Alafs) duplication Pathogenic rs71458427 GRCh37 Chromosome 11, 62381092: 62381092
5 PRPH2 NM_000322.4(PRPH2): c.356_358delGCT (p.Cys119del) deletion Pathogenic rs61755777 GRCh37 Chromosome 6, 42689715: 42689717
6 PRPH2 NM_000322.4(PRPH2): c.356_358delGCT (p.Cys119del) deletion Pathogenic rs61755777 GRCh38 Chromosome 6, 42721977: 42721979
7 PRPH2 NM_000322.4(PRPH2): c.647C> T (p.Pro216Leu) single nucleotide variant Pathogenic rs61755806 GRCh37 Chromosome 6, 42672284: 42672284
8 PRPH2 NM_000322.4(PRPH2): c.647C> T (p.Pro216Leu) single nucleotide variant Pathogenic rs61755806 GRCh38 Chromosome 6, 42704546: 42704546
9 PRPH2 NM_000322.4(PRPH2): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh37 Chromosome 6, 42689519: 42689519
10 PRPH2 NM_000322.4(PRPH2): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh38 Chromosome 6, 42721781: 42721781
11 PRPH2 NM_000322.4(PRPH2): c.732C> A (p.Asn244Lys) single nucleotide variant Pathogenic rs61755816 GRCh37 Chromosome 6, 42672199: 42672199
12 PRPH2 NM_000322.4(PRPH2): c.732C> A (p.Asn244Lys) single nucleotide variant Pathogenic rs61755816 GRCh38 Chromosome 6, 42704461: 42704461
13 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh38 Chromosome 6, 42721872: 42721874
14 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh37 Chromosome 6, 42689610: 42689612
15 PRPH2 NM_000322.4(PRPH2): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs61755771 GRCh37 Chromosome 6, 42689937: 42689937
16 PRPH2 NM_000322.4(PRPH2): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs61755771 GRCh38 Chromosome 6, 42722199: 42722199
17 PRPH2 PRPH2, 1-BP DEL, 1160T deletion Pathogenic
18 PRPH2 NM_000322.4(PRPH2): c.518A> T (p.Asp173Val) single nucleotide variant Pathogenic rs61755794 GRCh37 Chromosome 6, 42689555: 42689555
19 PRPH2 NM_000322.4(PRPH2): c.518A> T (p.Asp173Val) single nucleotide variant Pathogenic rs61755794 GRCh38 Chromosome 6, 42721817: 42721817
20 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh37 Chromosome 6, 42672294: 42672294
21 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh38 Chromosome 6, 42704556: 42704556
22 PRPH2 NM_000322.4(PRPH2): c.656_658delCAC (p.Pro219del) deletion Pathogenic rs61755807 GRCh37 Chromosome 6, 42672273: 42672275
23 PRPH2 NM_000322.4(PRPH2): c.656_658delCAC (p.Pro219del) deletion Pathogenic rs61755807 GRCh38 Chromosome 6, 42704535: 42704537

Expression for Retinitis Pigmentosa 7

Search GEO for disease gene expression data for Retinitis Pigmentosa 7.

Pathways for Retinitis Pigmentosa 7

Pathways related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.36 RHO TTR

GO Terms for Retinitis Pigmentosa 7

Cellular components related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 PRPH2 RHO
2 photoreceptor outer segment membrane GO:0042622 8.62 RHO ROM1

Biological processes related to Retinitis Pigmentosa 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.33 B2M SERPINA1 TTR
2 retina development in camera-type eye GO:0060041 9.32 PRPH2 RHO
3 retinoid metabolic process GO:0001523 9.26 RHO TTR
4 visual perception GO:0007601 9.13 PRPH2 RHO ROM1
5 neutrophil degranulation GO:0043312 8.92 ADAM8 B2M SERPINA1 TTR

Sources for Retinitis Pigmentosa 7

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....