MCID: RTN196
MIFTS: 18

Retinitis Pigmentosa 78

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 78

MalaCards integrated aliases for Retinitis Pigmentosa 78:

Name: Retinitis Pigmentosa 78 53 71
Rp78 53 71

Characteristics:

OMIM:

53
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 53 617433
MeSH 41 D012174

Summaries for Retinitis Pigmentosa 78

UniProtKB/Swiss-Prot : 71 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, and has symptoms including optic disc pallor, visual field defect and reduced visual acuity. An important gene associated with Retinitis Pigmentosa 78 is ARHGEF18 (Rho/Rac Guanine Nucleotide Exchange Factor 18).

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 Nonsyndromic Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa 78

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
reduced visual acuity
mild nyctalopia
photopsia
visual field defects
optic disc pallor
more

Clinical features from OMIM:

617433

Human phenotypes related to Retinitis Pigmentosa 78:

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

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

Publications for Retinitis Pigmentosa 78

Variations for Retinitis Pigmentosa 78

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

71
# Symbol AA change Variation ID SNP ID
1 ARHGEF18 p.Thr270Ala 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.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic rs1064793000 GRCh38 Chromosome 19, 7462259: 7462259
2 ARHGEF18 NM_015318.3(ARHGEF18): c.334A> G (p.Thr112Ala) single nucleotide variant Pathogenic rs987233144 GRCh37 Chromosome 19, 7509101: 7509101
3 ARHGEF18 NM_015318.3(ARHGEF18): c.2264_2287del24 (p.Arg755_Glu762del) deletion Pathogenic rs1064793001 GRCh38 Chromosome 19, 7467506: 7467529
4 ARHGEF18 NM_015318.3(ARHGEF18): c.2158G> T (p.Glu720Ter) single nucleotide variant Pathogenic rs767689418 GRCh37 Chromosome 19, 7532286: 7532286
5 ARHGEF18 NM_015318.3(ARHGEF18): c.1143+5G> A single nucleotide variant Pathogenic rs1064793002 GRCh37 Chromosome 19, 7521294: 7521294

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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