RP67
MCID: RTN140
MIFTS: 28

Retinitis Pigmentosa 67 (RP67)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 67

MalaCards integrated aliases for Retinitis Pigmentosa 67:

Name: Retinitis Pigmentosa 67 58 12 76 30 6 15 74
Rp67 58 12 76
Retinitis Pigmentosa, Type 67 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
retinitis pigmentosa 67:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110359
OMIM 58 615565
MeSH 45 D012174
ICD10 34 H35.5
SNOMED-CT via HPO 70 258211005 28835009
UMLS 74 C3809954

Summaries for Retinitis Pigmentosa 67

OMIM : 58 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)

MalaCards based summary : Retinitis Pigmentosa 67, also known as rp67, is related to idiopathic central precocious puberty and normosmic congenital hypogonadotropic hypogonadism. An important gene associated with Retinitis Pigmentosa 67 is NEK2 (NIMA Related Kinase 2). Affiliated tissues include bone and eye, 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 : 76 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
Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 idiopathic central precocious puberty 9.7 TAC3 TACR3
2 normosmic congenital hypogonadotropic hypogonadism 9.7 TAC3 TACR3
3 hypogonadotropic hypogonadism 9.7 TAC3 TACR3
4 meningoencephalitis 9.6 TAC1 TACR3
5 hypogonadism 9.6 TAC3 TACR3
6 kallmann syndrome 9.4 TAC3 TACR3

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:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

615565

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 30 NEK2

Anatomical Context for Retinitis Pigmentosa 67

MalaCards organs/tissues related to Retinitis Pigmentosa 67:

42
Bone, Eye

Publications for Retinitis Pigmentosa 67

Articles related to Retinitis Pigmentosa 67:

# Title Authors Year
1
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. ( 24043777 )
2013
2
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. ( 10932196 )
2000

Variations for Retinitis Pigmentosa 67

ClinVar genetic disease variations for Retinitis Pigmentosa 67:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEK2 NM_001204182.1(NEK2): c.617_624delTGTATGAGinsA (p.Leu206Hisfs) indel Pathogenic rs398122961 GRCh37 Chromosome 1, 211844558: 211844565
2 NEK2 NM_001204182.1(NEK2): c.617_624delTGTATGAGinsA (p.Leu206Hisfs) indel Pathogenic rs398122961 GRCh38 Chromosome 1, 211671216: 211671223

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

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.43 TAC1 TAC3 TACR3
2 neuropeptide signaling pathway GO:0007218 9.16 TAC1 TAC3
3 response to morphine GO:0043278 8.96 TAC1 TACR3
4 tachykinin receptor signaling pathway GO:0007217 8.8 TAC1 TAC3 TACR3

Sources for Retinitis Pigmentosa 67

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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