RP78
MCID: RTN196
MIFTS: 21

Retinitis Pigmentosa 78 (RP78)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 78

MalaCards integrated aliases for Retinitis Pigmentosa 78:

Name: Retinitis Pigmentosa 78 58 76 6
Rp78 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
retinitis pigmentosa 78:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Retinitis Pigmentosa 78

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include eye, and related phenotypes are reduced visual acuity and nyctalopia

Description from OMIM: 617433

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
Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 78

Human phenotypes related to Retinitis Pigmentosa 78:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 nyctalopia 33 HP:0000662
3 visual field defect 33 HP:0001123
4 optic disc pallor 33 HP:0000543
5 cystoid macular edema 33 HP:0011505
6 photopsia 33 HP:0030786

Symptoms via clinical synopsis from OMIM:

58
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

Anatomical Context for Retinitis Pigmentosa 78

MalaCards organs/tissues related to Retinitis Pigmentosa 78:

42
Eye

Publications for Retinitis Pigmentosa 78

Articles related to Retinitis Pigmentosa 78:

# Title Authors Year
1
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. ( 28132693 )
2017
2
Genome sequence of the lignocellulose degrading fungus Phanerochaete chrysosporium strain RP78. ( 15122302 )
2004

Variations for Retinitis Pigmentosa 78

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

76
# Symbol AA change Variation ID SNP ID
1 ARHGEF18 p.Thr458Ala VAR_078919 rs987233144

ClinVar genetic disease variations for Retinitis Pigmentosa 78:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARHGEF18 NM_015318.3(ARHGEF18): c.334A> G (p.Thr112Ala) single nucleotide variant Pathogenic rs987233144 GRCh37 Chromosome 19, 7509101: 7509101
2 ARHGEF18 NM_015318.3(ARHGEF18): c.334A> G (p.Thr112Ala) single nucleotide variant Pathogenic rs987233144 GRCh38 Chromosome 19, 7444215: 7444215
3 ARHGEF18 NM_015318.3(ARHGEF18): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic rs1064793000 GRCh37 Chromosome 19, 7527145: 7527145
4 ARHGEF18 NM_015318.3(ARHGEF18): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic rs1064793000 GRCh38 Chromosome 19, 7462259: 7462259
5 ARHGEF18 NM_001130955.1(ARHGEF18): c.2738_2761del (p.Arg913_Glu920del) deletion Pathogenic rs1064793001 GRCh38 Chromosome 19, 7467506: 7467529
6 ARHGEF18 NM_001130955.1(ARHGEF18): c.2738_2761del (p.Arg913_Glu920del) deletion Pathogenic rs1064793001 GRCh37 Chromosome 19, 7532392: 7532415
7 ARHGEF18 NM_015318.3(ARHGEF18): c.2158G> T (p.Glu720Ter) single nucleotide variant Pathogenic rs767689418 GRCh37 Chromosome 19, 7532286: 7532286
8 ARHGEF18 NM_015318.3(ARHGEF18): c.2158G> T (p.Glu720Ter) single nucleotide variant Pathogenic rs767689418 GRCh38 Chromosome 19, 7467400: 7467400
9 ARHGEF18 NM_015318.3(ARHGEF18): c.1143+5G> A single nucleotide variant Pathogenic rs1064793002 GRCh37 Chromosome 19, 7521294: 7521294
10 ARHGEF18 NM_015318.3(ARHGEF18): c.1143+5G> A single nucleotide variant Pathogenic rs1064793002 GRCh38 Chromosome 19, 7456408: 7456408

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
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
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