MCID: RTN165
MIFTS: 34

Retinitis Pigmentosa 68

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 68

MalaCards integrated aliases for Retinitis Pigmentosa 68:

Name: Retinitis Pigmentosa 68 57 12 75 29 6 15 73
Rp68 57 12 75
Retinitis Pigmentosa, Type 68 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
retinitis pigmentosa 68:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615725
Disease Ontology 12 DOID:0110374
ICD10 33 H35.5
MeSH 44 D012174
UMLS 73 C3810380

Summaries for Retinitis Pigmentosa 68

UniProtKB/Swiss-Prot : 75 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 neurotrophic keratopathy and spinocerebellar ataxia 23. An important gene associated with Retinitis Pigmentosa 68 is SLC7A14 (Solute Carrier Family 7 Member 14), and among its related pathways/superpathways are Peptide ligand-binding receptors and Calcium signaling pathway. Affiliated tissues include bone and eye, and related phenotypes are rod-cone dystrophy and nyctalopia

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

Description from OMIM: 615725

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 Nonsyndromic Retinitis Pigmentosa

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 neurotrophic keratopathy 10.0 TAC1 TACR1
2 spinocerebellar ataxia 23 9.9 NPS TACR1
3 epicondylitis 9.8 NPS TAC1
4 diverticulitis of colon 9.8 NPS TACR1
5 dental pulp disease 9.8 NPS TAC1
6 autonomic nervous system disease 9.8 NPS TAC1
7 neurodermatitis 9.7 NPS TAC1
8 indeterminate leprosy 9.7 NPS TAC1
9 nasal cavity disease 9.6 NPS TAC1
10 cystitis 9.6 TAC1 TACR1
11 constipation 9.3 TAC1 TACR1
12 perry syndrome 9.3 NPS TAC1 TACR1
13 migraine with or without aura 1 9.3 NPS TAC1 TACR1

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



Diseases related to Retinitis Pigmentosa 68

Symptoms & Phenotypes for Retinitis Pigmentosa 68

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
night blindness
visual field defect
intraretinal bone spicule pigmentation
retinal atrophy
thinning of outer retinal layer on optical coherence tomography
more

Clinical features from OMIM:

615725

Human phenotypes related to Retinitis Pigmentosa 68:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 nyctalopia 32 HP:0000662
3 retinal atrophy 32 HP:0001105
4 visual field defect 32 HP:0001123

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:

41
Bone, Eye

Publications for Retinitis Pigmentosa 68

Variations for Retinitis Pigmentosa 68

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

75
# 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

ClinVar genetic disease variations for Retinitis Pigmentosa 68:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC7A14 NM_020949.2(SLC7A14): c.988G> A (p.Gly330Arg) single nucleotide variant Pathogenic rs2276717 GRCh37 Chromosome 3, 170201230: 170201230
2 SLC7A14 NM_020949.2(SLC7A14): c.988G> A (p.Gly330Arg) single nucleotide variant Pathogenic rs2276717 GRCh38 Chromosome 3, 170483441: 170483441
3 SLC7A14 NM_020949.2(SLC7A14): c.2122T> G (p.Phe708Val) single nucleotide variant Pathogenic rs587777272 GRCh37 Chromosome 3, 170185037: 170185037
4 SLC7A14 NM_020949.2(SLC7A14): c.2122T> G (p.Phe708Val) single nucleotide variant Pathogenic rs587777272 GRCh38 Chromosome 3, 170467249: 170467249
5 SLC7A14 NM_020949.2(SLC7A14): c.1391G> T (p.Cys464Phe) single nucleotide variant Pathogenic rs79668755 GRCh37 Chromosome 3, 170198680: 170198680
6 SLC7A14 NM_020949.2(SLC7A14): c.1391G> T (p.Cys464Phe) single nucleotide variant Pathogenic rs79668755 GRCh38 Chromosome 3, 170480891: 170480891
7 SLC7A14 NM_020949.2(SLC7A14): c.395C> T (p.Ala132Val) single nucleotide variant Pathogenic rs587777273 GRCh37 Chromosome 3, 170219044: 170219044
8 SLC7A14 NM_020949.2(SLC7A14): c.395C> T (p.Ala132Val) single nucleotide variant Pathogenic rs587777273 GRCh38 Chromosome 3, 170501255: 170501255

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

Cellular components related to Retinitis Pigmentosa 68 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sperm flagellum GO:0036126 9.16 TACR1 TACR2
2 sperm midpiece GO:0097225 8.96 TACR1 TACR2
3 sperm head GO:0061827 8.62 TACR1 TACR2

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.92 BDKRB2 NPS TAC1 TACR1 TACR2
2 inflammatory response GO:0006954 9.82 BDKRB2 TAC1 TACR1
3 cell surface receptor signaling pathway GO:0007166 9.8 BDKRB2 TACR1 TACR2
4 chemical synaptic transmission GO:0007268 9.79 TAC1 TACR1 TACR2
5 positive regulation of cytosolic calcium ion concentration GO:0007204 9.71 BDKRB2 TAC1 TACR1
6 neuropeptide signaling pathway GO:0007218 9.65 NPS TAC1
7 regulation of blood pressure GO:0008217 9.65 TAC1 TACR1
8 response to hormone GO:0009725 9.64 TAC1 TACR1
9 sensory perception of pain GO:0019233 9.63 TAC1 TACR1
10 positive regulation of stress fiber assembly GO:0051496 9.63 TAC1 TACR1
11 positive regulation of epithelial cell migration GO:0010634 9.62 TAC1 TACR1
12 long-term memory GO:0007616 9.61 TAC1 TACR1
13 response to morphine GO:0043278 9.6 TAC1 TACR1
14 associative learning GO:0008306 9.59 TAC1 TACR1
15 response to electrical stimulus GO:0051602 9.58 TACR1 TACR2
16 positive regulation of smooth muscle contraction GO:0045987 9.58 TACR1 TACR2
17 response to pain GO:0048265 9.57 TAC1 TACR1
18 positive regulation of ossification GO:0045778 9.56 TAC1 TACR1
19 positive regulation of renal sodium excretion GO:0035815 9.55 TAC1 TACR1
20 positive regulation of vascular permeability GO:0043117 9.51 TACR1 TACR2
21 positive regulation of lymphocyte proliferation GO:0050671 9.49 TAC1 TACR1
22 positive regulation of uterine smooth muscle contraction GO:0070474 9.48 TACR1 TACR2
23 positive regulation of flagellated sperm motility GO:1902093 9.46 TACR1 TACR2
24 detection of abiotic stimulus GO:0009582 9.43 TAC1 TACR1
25 positive regulation of saliva secretion GO:0046878 9.4 TAC1 TACR1
26 operant conditioning GO:0035106 9.37 TACR1 TACR2
27 positive regulation of synaptic transmission, GABAergic GO:0032230 9.33 NPS TAC1 TACR1
28 positive regulation of synaptic transmission, cholinergic GO:0032224 9.32 TAC1 TACR1
29 regulation of uterine smooth muscle contraction GO:0070472 9.26 TACR1 TACR2
30 tachykinin receptor signaling pathway GO:0007217 9.13 TAC1 TACR1 TACR2
31 positive regulation of action potential GO:0045760 8.8 NPS TAC1 TACR1

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

# Name GO ID Score Top Affiliating Genes
1 tachykinin receptor activity GO:0004995 8.62 TACR1 TACR2

Sources for Retinitis Pigmentosa 68

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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