MCID: RTN165
MIFTS: 36

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 54 12 71 29 14 69
Rp68 12 71

Characteristics:

OMIM:

54
Miscellaneous:
onset of symptoms within the first 2 decades of life

Inheritance:
autosomal recessive


HPO:

32
retinitis pigmentosa 68:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615725
Disease Ontology 12 DOID:0110374
ICD10 33 H35.5
MeSH 42 D012174

Summaries for Retinitis Pigmentosa 68

UniProtKB/Swiss-Prot : 71 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 slc7a14-related retinitis pigmentosa and laminopathy type decaudain-vigouroux, and has symptoms including nyctalopia, rod-cone dystrophy and visual field defect. 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. The drugs Isopropyl unoprostone and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include bone and eye.

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 59 Retinitis Pigmentosa 76
Retinitis Pigmentosa 20 Retinitis Pigmentosa 19
Retinitis Pigmentosa 32 Retinitis Pigmentosa 18
Retinitis Pigmentosa 35 Retinitis Pigmentosa-12, Autosomal Recessive
Retinitis Pigmentosa 67 Retinitis Pigmentosa 39
Retinitis Pigmentosa 58 Retinitis Pigmentosa 54
Retinitis Pigmentosa 75 Retinitis Pigmentosa 71
Retinitis Pigmentosa 28 Retinitis Pigmentosa 33
Retinitis Pigmentosa 38 Retinitis Pigmentosa 26
Retinitis Pigmentosa 47 Retinitis Pigmentosa 55
Retinitis Pigmentosa 56 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 41
Retinitis Pigmentosa 49 Retinitis Pigmentosa 29
Retinitis Pigmentosa 43 Retinitis Pigmentosa 62
Retinitis Pigmentosa 14 Retinitis Pigmentosa 48
Retinitis Pigmentosa 25 Retinitis Pigmentosa 63
Retinitis Pigmentosa 42 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa 73
Retinitis Pigmentosa 1 Retinitis Pigmentosa 31
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 79 Retinitis Pigmentosa 44
Retinitis Pigmentosa 72 Retinitis Pigmentosa-50
Retinitis Pigmentosa 27 Retinitis Pigmentosa 51
Retinitis Pigmentosa 37 Retinitis Pigmentosa 22
Retinitis Pigmentosa 45 Retinitis Pigmentosa 74
Retinitis Pigmentosa 13 Retinitis Pigmentosa 36
Retinitis Pigmentosa 17 Retinitis Pigmentosa 30
Retinitis Pigmentosa 57 Retinitis Pigmentosa 77
Retinitis Pigmentosa 78 Retinitis Pigmentosa 11
Retinitis Pigmentosa 46 Retinitis Pigmentosa 69
Retinitis Pigmentosa 60 Retinitis Pigmentosa 23
Retinitis Pigmentosa 3 Retinitis Pigmentosa 2
Retinitis Pigmentosa 24 Retinitis Pigmentosa 34
Late-Adult Onset Retinitis Pigmentosa Nonsyndromic Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Agbl5-Related Retinitis Pigmentosa
Aipl1-Related Retinitis Pigmentosa Arl2bp-Related Retinitis Pigmentosa
Arl6-Related Retinitis Pigmentosa Bbs2-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Ca4-Related Retinitis Pigmentosa
Cerkl-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Crb1-Related Retinitis Pigmentosa Crx-Related Retinitis Pigmentosa
Dhdds-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Idh3b-Related Retinitis Pigmentosa
Impdh1-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Kiz-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Ofd1-Related Retinitis Pigmentosa
Pde6a-Related Retinitis Pigmentosa Pde6b-Related Retinitis Pigmentosa
Prcd-Related Retinitis Pigmentosa Prom1-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Prpf4-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Prpf8-Related Retinitis Pigmentosa Prph2-Related Retinitis Pigmentosa
Rbp3-Related Retinitis Pigmentosa Rdh12-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rom1-Related Retinitis Pigmentosa Rp1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Rp9-Related Retinitis Pigmentosa
Rpe65-Related Retinitis Pigmentosa Rpgr-Related Retinitis Pigmentosa
Sag-Related Retinitis Pigmentosa Sema4a-Related Retinitis Pigmentosa
Slc7a14-Related Retinitis Pigmentosa Snrnp200-Related Retinitis Pigmentosa
Spata7-Related Retinitis Pigmentosa Topors-Related Retinitis Pigmentosa
Ttc8-Related Retinitis Pigmentosa Tulp1-Related Retinitis Pigmentosa
Ush2a-Related Retinitis Pigmentosa Znf513-Related Retinitis Pigmentosa

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

(show all 15)
id Related Disease Score Top Affiliating Genes
1 slc7a14-related retinitis pigmentosa 11.1
2 laminopathy type decaudain-vigouroux 10.1 TAC1 TACR1
3 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 NPS TACR1
4 boutonneuse fever 9.9 NPS TAC1
5 cutaneous porphyria 9.9 NPS TACR1
6 epulis 9.9 NPS TAC1
7 hemopericardium 9.8 NPS TAC1
8 neovascular glaucoma 9.8 TAC1 TACR1
9 angiomyolipoma 9.8 NPS TAC1
10 chronic erythremia 9.7 NPS TAC1
11 eyelid neoplasm 9.6 NPS TAC1
12 sweat gland cancer 9.5 TAC1 TACR1
13 perry syndrome 9.5 NPS TAC1 TACR1
14 albinism, oculocutaneous, type v 9.4 NPS TAC1 TACR1
15 mental retardation, autosomal recessive 54 7.8 BDKRB2 NPS SLC7A14 TAC1 TACR1 TACR2

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:

54

Head And Neck- Eyes:
extinguished responses on electroretinography
thinning of outer retinal layer on optical coherence tomography
retinal atrophy
intraretinal bone spicule pigmentation
visual field defect
more

Clinical features from OMIM:

615725

Human phenotypes related to Retinitis Pigmentosa 68:

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

Drugs & Therapeutics for Retinitis Pigmentosa 68

Drugs for Retinitis Pigmentosa 68 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Isopropyl unoprostone Phase 3
2 Antihypertensive Agents Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo

Search NIH Clinical Center for Retinitis Pigmentosa 68

Genetic Tests for Retinitis Pigmentosa 68

Genetic tests related to Retinitis Pigmentosa 68:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa 68 29

Anatomical Context for Retinitis Pigmentosa 68

MalaCards organs/tissues related to Retinitis Pigmentosa 68:

39
Bone, Eye

Publications for Retinitis Pigmentosa 68

Variations for Retinitis Pigmentosa 68

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

71
id 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
id 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.2122T> G (p.Phe708Val) single nucleotide variant Pathogenic rs587777272 GRCh37 Chromosome 3, 170185037: 170185037
3 SLC7A14 NM_020949.2(SLC7A14): c.1391G> T (p.Cys464Phe) single nucleotide variant Pathogenic rs79668755 GRCh37 Chromosome 3, 170198680: 170198680
4 SLC7A14 NM_020949.2(SLC7A14): c.395C> T (p.Ala132Val) single nucleotide variant Pathogenic rs587777273 GRCh37 Chromosome 3, 170219044: 170219044

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:

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.8 BDKRB2 TAC1 TACR1
2 chemical synaptic transmission GO:0007268 9.74 TAC1 TACR1 TACR2
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.69 BDKRB2 TAC1 TACR1
4 neuropeptide signaling pathway GO:0007218 9.64 NPS TAC1
5 regulation of blood pressure GO:0008217 9.63 TAC1 TACR1
6 response to hormone GO:0009725 9.63 TAC1 TACR1
7 sensory perception of pain GO:0019233 9.62 TAC1 TACR1
8 positive regulation of stress fiber assembly GO:0051496 9.61 TAC1 TACR1
9 positive regulation of epithelial cell migration GO:0010634 9.61 TAC1 TACR1
10 long-term memory GO:0007616 9.6 TAC1 TACR1
11 response to morphine GO:0043278 9.59 TAC1 TACR1
12 response to electrical stimulus GO:0051602 9.58 TACR1 TACR2
13 associative learning GO:0008306 9.58 TAC1 TACR1
14 positive regulation of smooth muscle contraction GO:0045987 9.56 TACR1 TACR2
15 response to pain GO:0048265 9.55 TAC1 TACR1
16 positive regulation of ossification GO:0045778 9.54 TAC1 TACR1
17 positive regulation of renal sodium excretion GO:0035815 9.52 TAC1 TACR1
18 positive regulation of vascular permeability GO:0043117 9.49 TACR1 TACR2
19 positive regulation of uterine smooth muscle contraction GO:0070474 9.48 TACR1 TACR2
20 positive regulation of lymphocyte proliferation GO:0050671 9.46 TAC1 TACR1
21 positive regulation of synaptic transmission, cholinergic GO:0032224 9.43 TAC1 TACR1
22 detection of abiotic stimulus GO:0009582 9.4 TAC1 TACR1
23 positive regulation of saliva secretion GO:0046878 9.37 TAC1 TACR1
24 positive regulation of synaptic transmission, GABAergic GO:0032230 9.33 NPS TAC1 TACR1
25 operant conditioning GO:0035106 9.32 TACR1 TACR2
26 regulation of uterine smooth muscle contraction GO:0070472 9.26 TACR1 TACR2
27 tachykinin receptor signaling pathway GO:0007217 9.13 TAC1 TACR1 TACR2
28 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:

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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