RP67
MCID: RTN140
MIFTS: 32

Retinitis Pigmentosa 67 (RP67)

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

Aliases & Classifications for Retinitis Pigmentosa 67

MalaCards integrated aliases for Retinitis Pigmentosa 67:

Name: Retinitis Pigmentosa 67 57 12 72 29 6 15 70
Rp67 57 12 72
Retinitis Pigmentosa, Type 67 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
no clinical description given for 1 reported patient (last curated december 2013)


HPO:

31
retinitis pigmentosa 67:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110359
OMIM® 57 615565
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
SNOMED-CT via HPO 68 258211005 28835009
UMLS 70 C3809954

Summaries for Retinitis Pigmentosa 67

OMIM® : 57 Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions in which degeneration of rod photoreceptors, responsible for vision under dark conditions, is more pronounced than that of cone photoreceptors, which mediate daylight vision. Individuals with RP typically experience night blindness at first, followed by progressive and unstoppable visual impairment in daytime conditions as well. Their visual fields become reduced gradually and sight is lost from the midperiphery to the periphery, then from the midperiphery to the center, resulting eventually in complete or near-complete blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule configuration around the fundus periphery as well as retinal arteriolar attenuation, elevated final dark-adapted thresholds, and reduced and delayed electroretinograms. Autosomal recessive RP is the most common form of hereditary retinal degeneration in humans (summary by Nishiguchi et al., 2013). For a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (615565) (Updated 05-Apr-2021)

MalaCards based summary : Retinitis Pigmentosa 67, also known as rp67, is related to neurotrophic keratopathy and keratopathy. An important gene associated with Retinitis Pigmentosa 67 is NEK2 (NIMA Related Kinase 2), and among its related pathways/superpathways are Peptide ligand-binding receptors and Calcium signaling pathway. Affiliated tissues include eye and retina, and related phenotype is rod-cone dystrophy.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the NEK2 gene on chromosome 1q32.

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 67: 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.

Related Diseases for Retinitis Pigmentosa 67

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
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 67 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 neurotrophic keratopathy 10.2 TACR1 TAC1
2 keratopathy 10.2 TACR1 TAC1
3 causalgia 10.2 TACR1 TAC1
4 telogen effluvium 10.2 TACR1 TAC1
5 epicondylitis 10.2 TACR1 TAC1
6 trigeminal nerve disease 10.1 TACR1 TAC1
7 motion sickness 10.1 TACR1 TAC1
8 autonomic nervous system disease 10.1 TACR1 TAC1
9 chronic spontaneous urticaria 10.1 TACR1 TAC1
10 neurogenic bladder 10.1 TACR1 TAC1
11 idiopathic central precocious puberty 10.1 TACR3 TAC3
12 somatoform disorder 10.1 TACR1 TAC1
13 complex regional pain syndrome 10.1 TACR1 TAC1
14 pain agnosia 10.1 TACR1 TAC1
15 agnosia 10.0 TACR1 TAC1
16 normosmic congenital hypogonadotropic hypogonadism 10.0 TACR3 TAC3
17 interstitial cystitis 10.0 TACR1 TAC1
18 paine syndrome 10.0 TACR1 TAC1
19 retinitis pigmentosa 68 9.9 TACR2 TAC1 ARHGEF18
20 meningoencephalitis 9.9 TACR3 TAC1
21 retinitis pigmentosa 55 9.8 PCARE C8orf37
22 retinitis pigmentosa 62 9.8 PCARE C8orf37
23 retinitis pigmentosa 51 9.8 PCARE C8orf37
24 retinitis pigmentosa 31 9.8 PCARE C8orf37
25 retinitis pigmentosa 54 9.8 PCARE C8orf37
26 retinitis pigmentosa 28 9.8 PCARE C8orf37
27 cone-rod dystrophy 16 9.8 PCARE C8orf37
28 major depressive disorder 9.6 TACR2 TACR1 TAC1
29 constipation 9.5 TACR3 TACR2 TACR1 TAC3 TAC1
30 retinitis pigmentosa 74 9.5 PCARE C8orf37 ARHGEF18
31 retinitis pigmentosa 71 9.5 PCARE C8orf37 ARHGEF18
32 retinitis pigmentosa 8.6 TACR2 TACR1 TAC3 TAC1 PCARE NEK2

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 67:



Diseases related to Retinitis Pigmentosa 67

Symptoms & Phenotypes for Retinitis Pigmentosa 67

Human phenotypes related to Retinitis Pigmentosa 67:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

615565 (Updated 05-Apr-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 67

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 67

Genetic Tests for Retinitis Pigmentosa 67

Genetic tests related to Retinitis Pigmentosa 67:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 67 29 NEK2

Anatomical Context for Retinitis Pigmentosa 67

MalaCards organs/tissues related to Retinitis Pigmentosa 67:

40
Eye, Retina

Publications for Retinitis Pigmentosa 67

Articles related to Retinitis Pigmentosa 67:

# Title Authors PMID Year
1
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 57 6
24043777 2013
2
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 6 57
10932196 2000
3
Some Problems With the Analytical Argument in Support of RP67 in the Context of the Bookmark Standard Setting Method. 61
31452556 2019
4
Superoxide generation by Nox1 in guinea pig gastric mucosal cells involves a component with p67(phox)-ability. 61
14758023 2004
5
p21rac does not participate in the early interaction between p47-phox and cytochrome b558 that leads to phagocyte NADPH oxidase activation in vitro. 61
8117710 1994

Variations for Retinitis Pigmentosa 67

ClinVar genetic disease variations for Retinitis Pigmentosa 67:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEK2 NM_002497.4(NEK2):c.617_624delinsA (p.Leu206fs) Indel Pathogenic 91391 rs398122961 GRCh37: 1:211844558-211844565
GRCh38: 1:211671216-211671223
2 NEK2 NM_002497.4(NEK2):c.97-2A>G SNV Pathogenic 1032832 GRCh37: 1:211847857-211847857
GRCh38: 1:211674515-211674515

Expression for Retinitis Pigmentosa 67

Search GEO for disease gene expression data for Retinitis Pigmentosa 67.

Pathways for Retinitis Pigmentosa 67

GO Terms for Retinitis Pigmentosa 67

Cellular components related to Retinitis Pigmentosa 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sperm flagellum GO:0036126 9.26 TACR2 TACR1
2 photoreceptor inner segment GO:0001917 9.16 PCARE C8orf37
3 sperm head GO:0061827 8.96 TACR2 TACR1
4 sperm midpiece GO:0097225 8.8 TACR3 TACR2 TACR1

Biological processes related to Retinitis Pigmentosa 67 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.8 TACR3 TACR2 TACR1 TAC3 TAC1 ARHGEF18
2 inflammatory response GO:0006954 9.69 TACR1 TAC4 TAC1
3 positive regulation of cytosolic calcium ion concentration GO:0007204 9.61 TACR1 TAC4 TAC1
4 regulation of blood pressure GO:0008217 9.49 TAC4 TAC1
5 response to morphine GO:0043278 9.48 TACR3 TAC1
6 positive regulation of blood pressure GO:0045777 9.46 TACR3 TAC3
7 response to pain GO:0048265 9.4 TACR1 TAC1
8 positive regulation of uterine smooth muscle contraction GO:0070474 9.37 TACR3 TACR2
9 detection of abiotic stimulus GO:0009582 9.26 TACR1 TAC1
10 positive regulation of flagellated sperm motility GO:1902093 9.26 TACR3 TACR2 TACR1 TAC4
11 regulation of uterine smooth muscle contraction GO:0070472 9.16 TACR2 TACR1
12 tachykinin receptor signaling pathway GO:0007217 9.1 TACR3 TACR2 TACR1 TAC4 TAC3 TAC1

Molecular functions related to Retinitis Pigmentosa 67 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 substance P receptor binding GO:0031835 8.96 TAC4 TAC1
2 tachykinin receptor activity GO:0004995 8.8 TACR3 TACR2 TACR1

Sources for Retinitis Pigmentosa 67

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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