RP68
MCID: RTN165
MIFTS: 30

Retinitis Pigmentosa 68 (RP68)

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

Aliases & Classifications for Retinitis Pigmentosa 68

MalaCards integrated aliases for Retinitis Pigmentosa 68:

Name: Retinitis Pigmentosa 68 56 12 73 29 6 15 71
Rp68 56 12 73
Retinitis Pigmentosa, Type 68 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms within the first 2 decades of life


HPO:

31
retinitis pigmentosa 68:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110374
OMIM 56 615725
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
UMLS 71 C3810380

Summaries for Retinitis Pigmentosa 68

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 68: 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 68, also known as rp68, is related to hyperekplexia and retinitis pigmentosa 67. An important gene associated with Retinitis Pigmentosa 68 is SLC7A14 (Solute Carrier Family 7 Member 14). Affiliated tissues include eye, bone and retina, and related phenotypes are nyctalopia and rod-cone dystrophy

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the SLC7A14 gene on chromosome 3q26.

More information from OMIM: 615725 PS268000

Related Diseases for Retinitis Pigmentosa 68

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

Diseases related to Retinitis Pigmentosa 68 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperekplexia 9.8 SLC7A14 SLC6A17
2 retinitis pigmentosa 67 9.7 TACR2 ARHGEF18
3 dicarboxylic aminoaciduria 9.6 SLC7A14 SLC6A17
4 epileptic encephalopathy, early infantile, 3 9.0 SLC7A14 SLC7A13 SLC6A17 SLC38A8
5 hyperekplexia 3 9.0 SLC7A14 SLC7A13 SLC6A17 SLC38A8

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 68:



Diseases related to Retinitis Pigmentosa 68

Symptoms & Phenotypes for Retinitis Pigmentosa 68

Human phenotypes related to Retinitis Pigmentosa 68:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 HP:0000662
2 rod-cone dystrophy 31 HP:0000510
3 visual field defect 31 HP:0001123
4 retinal atrophy 31 HP:0001105

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
visual field defect
retinal atrophy
night blindness
intraretinal bone spicule pigmentation
extinguished responses on electroretinography
more

Clinical features from OMIM:

615725

Drugs & Therapeutics for Retinitis Pigmentosa 68

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 68

Genetic Tests for Retinitis Pigmentosa 68

Genetic tests related to Retinitis Pigmentosa 68:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 68 29 SLC7A14

Anatomical Context for Retinitis Pigmentosa 68

MalaCards organs/tissues related to Retinitis Pigmentosa 68:

40
Eye, Bone, Retina

Publications for Retinitis Pigmentosa 68

Articles related to Retinitis Pigmentosa 68:

# Title Authors PMID Year
1
SLC7A14 linked to autosomal recessive retinitis pigmentosa. 56 6
24670872 2014
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

Variations for Retinitis Pigmentosa 68

ClinVar genetic disease variations for Retinitis Pigmentosa 68:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC7A14 NM_020949.3(SLC7A14):c.2122T>G (p.Phe708Val)SNV Pathogenic 126447 rs587777272 3:170185037-170185037 3:170467249-170467249
2 SLC7A14 NM_020949.3(SLC7A14):c.395C>T (p.Ala132Val)SNV Pathogenic 126449 rs587777273 3:170219044-170219044 3:170501255-170501255
3 SLC7A14 NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe)SNV Uncertain significance 587502 rs753129566 3:170198825-170198825 3:170481036-170481036
4 SLC7A14 NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)SNV Benign 126446 rs2276717 3:170201230-170201230 3:170483441-170483441
5 SLC7A14 NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe)SNV Benign 126448 rs79668755 3:170198680-170198680 3:170480891-170480891

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 68:

73
# Symbol AA change Variation ID SNP ID
1 SLC7A14 p.Gly330Arg VAR_035417 rs2276717
2 SLC7A14 p.Ala132Val VAR_071050 rs587777273
3 SLC7A14 p.Cys464Phe VAR_071054 rs79668755
4 SLC7A14 p.Phe708Val VAR_071056 rs587777272

Expression for Retinitis Pigmentosa 68

Search GEO for disease gene expression data for Retinitis Pigmentosa 68.

Pathways for Retinitis Pigmentosa 68

GO Terms for Retinitis Pigmentosa 68

Biological processes related to Retinitis Pigmentosa 68 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.33 SLC7A14 SLC7A13 SLC6A17
2 amino acid transport GO:0006865 9.13 SLC7A14 SLC7A13 SLC38A8
3 amino acid transmembrane transport GO:0003333 8.8 SLC7A14 SLC7A13 SLC38A8

Molecular functions related to Retinitis Pigmentosa 68 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amino acid transmembrane transporter activity GO:0015171 8.62 SLC7A14 SLC38A8

Sources for Retinitis Pigmentosa 68

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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