MCID: RTN140
MIFTS: 27

Retinitis Pigmentosa 67

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 67

MalaCards integrated aliases for Retinitis Pigmentosa 67:

Name: Retinitis Pigmentosa 67 57 12 75 29 6 15 73
Rp67 57 12 75
Retinitis Pigmentosa, Type 67 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
retinitis pigmentosa 67:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615565
Disease Ontology 12 DOID:0110359
ICD10 33 H35.5
MeSH 44 D012174
SNOMED-CT via HPO 69 258211005 28835009
UMLS 73 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)

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.

UniProtKB/Swiss-Prot : 75 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.

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

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 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 9.6 TAC3 TACR3
4 hypogonadism 9.5 TAC3 TACR3
5 kallmann syndrome 9.2 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa


Clinical features from OMIM:

615565

Human phenotypes related to Retinitis Pigmentosa 67:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510

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:

41
Bone, Eye

Publications for Retinitis Pigmentosa 67

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 neuropeptide signaling pathway GO:0007218 9.16 TAC1 TAC3
2 response to morphine GO:0043278 8.96 TAC1 TACR3
3 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 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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