RP88
MCID: RTN230
MIFTS: 21

Retinitis Pigmentosa 88 (RP88)

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

Aliases & Classifications for Retinitis Pigmentosa 88

MalaCards integrated aliases for Retinitis Pigmentosa 88:

Name: Retinitis Pigmentosa 88 56 73 6
Rp88 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in 3rd to 5th decade of life (in most patients)


HPO:

31
retinitis pigmentosa 88:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618826
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
MedGen 41 CN263396

Summaries for Retinitis Pigmentosa 88

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 88: A form of retinitis pigmentosa, 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. RP88 is an autosomal recessive form.

MalaCards based summary : Retinitis Pigmentosa 88, is also known as rp88. An important gene associated with Retinitis Pigmentosa 88 is RP1L1 (RP1 Like 1). Affiliated tissues include eye, bone and retina, and related phenotypes are reduced visual acuity and nyctalopia

OMIM : 56 Retinitis pigmentosa-88 (RP88) is characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity. Examination shows typical findings of RP, including attenuated retinal vessels, pale optic discs, and pigment deposits in the peripheral retinal pigment epithelium (Zobor et al., 2018; Hu et al., 2019; Albarry et al., 2019). For a discussion of genetic heterogeneity of RP, see 268000. (618826)

Related Diseases for Retinitis Pigmentosa 88

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
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 88

Human phenotypes related to Retinitis Pigmentosa 88:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 very rare (1%) HP:0007663
2 nyctalopia 31 very rare (1%) HP:0000662
3 attenuation of retinal blood vessels 31 very rare (1%) HP:0007843
4 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
5 optic disc pallor 31 HP:0000543
6 cystoid macular edema 31 HP:0011505

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
bull's eye maculopathy
attenuated retinal vessels
pale optic disc
reduced night vision
constricted peripheral visual fields
more

Clinical features from OMIM:

618826

Drugs & Therapeutics for Retinitis Pigmentosa 88

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 88

Genetic Tests for Retinitis Pigmentosa 88

Anatomical Context for Retinitis Pigmentosa 88

MalaCards organs/tissues related to Retinitis Pigmentosa 88:

40
Eye, Bone, Retina

Publications for Retinitis Pigmentosa 88

Articles related to Retinitis Pigmentosa 88:

# Title Authors PMID Year
1
Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients. 56 6
31833436 2019
2
Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families. 6 56
31236346 2019
3
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. 56 6
30025130 2018
4
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy. 56 6
23281133 2013
5
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
6
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
7
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000

Variations for Retinitis Pigmentosa 88

ClinVar genetic disease variations for Retinitis Pigmentosa 88:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RP1L1 NM_178857.6(RP1L1):c.5470C>T (p.Gln1824Ter)SNV Pathogenic 828062 8:10466138-10466138 8:10608628-10608628
2 RP1L1 NM_178857.6(RP1L1):c.56C>A (p.Pro19His)SNV Pathogenic 828063 8:10480656-10480656 8:10623146-10623146
3 RP1L1 NM_178857.6(RP1L1):c.3955_3956insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Ala1319_Val1320insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)insertion Pathogenic 828064 8:10467652-10467653 8:10610142-10610143
4 RP1L1 NM_178857.6(RP1L1):c.603del (p.Lys203fs)deletion Pathogenic 50376 rs387907367 8:10480109-10480109 8:10622599-10622599
5 RP1L1 NM_178857.6(RP1L1):c.3022C>T (p.Gln1008Ter)SNV Uncertain significance 624306 rs756996764 8:10468586-10468586 8:10611076-10611076

Expression for Retinitis Pigmentosa 88

Search GEO for disease gene expression data for Retinitis Pigmentosa 88.

Pathways for Retinitis Pigmentosa 88

GO Terms for Retinitis Pigmentosa 88

Sources for Retinitis Pigmentosa 88

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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