RP78
MCID: RTN196
MIFTS: 21

Retinitis Pigmentosa 78 (RP78)

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

Aliases & Classifications for Retinitis Pigmentosa 78

MalaCards integrated aliases for Retinitis Pigmentosa 78:

Name: Retinitis Pigmentosa 78 56 73 29 6
Rp78 56 73
Retinitis Pigmentosa, Type 78 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in the third decade of life
progression of disease with age


HPO:

31
retinitis pigmentosa 78:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 617433
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174

Summaries for Retinitis Pigmentosa 78

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 78: 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. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP78 inheritance is autosomal recessive.

MalaCards based summary : Retinitis Pigmentosa 78, is also known as rp78. An important gene associated with Retinitis Pigmentosa 78 is ARHGEF18 (Rho/Rac Guanine Nucleotide Exchange Factor 18). Related phenotypes are reduced visual acuity and nyctalopia

More information from OMIM: 617433 PS268000

Related Diseases for Retinitis Pigmentosa 78

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 78

Human phenotypes related to Retinitis Pigmentosa 78:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 nyctalopia 31 HP:0000662
3 optic disc pallor 31 HP:0000543
4 visual field defect 31 HP:0001123
5 cystoid macular edema 31 HP:0011505
6 photopsia 31 HP:0030786

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
reduced visual acuity
optic disc pallor
cystoid macular edema
photopsia
visual field defects
more

Clinical features from OMIM:

617433

Drugs & Therapeutics for Retinitis Pigmentosa 78

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 78

Genetic Tests for Retinitis Pigmentosa 78

Genetic tests related to Retinitis Pigmentosa 78:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 78 29 ARHGEF18

Anatomical Context for Retinitis Pigmentosa 78

Publications for Retinitis Pigmentosa 78

Articles related to Retinitis Pigmentosa 78:

# Title Authors PMID Year
1
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 6 56
28132693 2017
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
5
Genome sequence of the lignocellulose degrading fungus Phanerochaete chrysosporium strain RP78. 61
15122302 2004
6
Retinal fluorescein leakage in retinitis pigmentosa. 61
3953729 1986

Variations for Retinitis Pigmentosa 78

ClinVar genetic disease variations for Retinitis Pigmentosa 78:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARHGEF18 NM_015318.4(ARHGEF18):c.334A>G (p.Thr112Ala)SNV Pathogenic 417754 rs987233144 19:7509101-7509101 19:7444215-7444215
2 ARHGEF18 NM_015318.4(ARHGEF18):c.1522C>T (p.Arg508Ter)SNV Pathogenic 417755 rs1064793000 19:7527145-7527145 19:7462259-7462259
3 ARHGEF18 NM_015318.4(ARHGEF18):c.2264_2287del (p.Arg755_Glu762del)deletion Pathogenic 417756 rs1064793001 19:7532387-7532410 19:7467501-7467524
4 ARHGEF18 NM_015318.4(ARHGEF18):c.2158G>T (p.Glu720Ter)SNV Pathogenic 417757 rs767689418 19:7532286-7532286 19:7467400-7467400
5 ARHGEF18 NM_015318.4(ARHGEF18):c.1143+5G>ASNV Pathogenic 417758 rs1064793002 19:7521294-7521294 19:7456408-7456408
6 ARHGEF18 NM_015318.4(ARHGEF18):c.431G>T (p.Arg144Leu)SNV Uncertain significance 814002 19:7509198-7509198 19:7444312-7444312
7 ARHGEF18 NM_015318.4(ARHGEF18):c.2542C>T (p.Arg848Cys)SNV Uncertain significance 814003 19:7533810-7533810 19:7468924-7468924

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 78:

73
# Symbol AA change Variation ID SNP ID
1 ARHGEF18 p.Thr458Ala VAR_078919 rs987233144

Expression for Retinitis Pigmentosa 78

Search GEO for disease gene expression data for Retinitis Pigmentosa 78.

Pathways for Retinitis Pigmentosa 78

GO Terms for Retinitis Pigmentosa 78

Sources for Retinitis Pigmentosa 78

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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