MCID: RTN055
MIFTS: 36

Retinitis Pigmentosa 26

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 26

MalaCards integrated aliases for Retinitis Pigmentosa 26:

Name: Retinitis Pigmentosa 26 53 12 49 71 28 13 14 69
Rp26 53 12 71
Rp 26 49

Characteristics:

HPO:

31
retinitis pigmentosa 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 608380
Disease Ontology 12 DOID:0110368
ICD10 32 H35.5
MedGen 39 C1842127
MeSH 41 D012174
UMLS 69 C1842127

Summaries for Retinitis Pigmentosa 26

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 26: 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 26, also known as rp26, is related to retinitis pigmentosa and oligocone trichromacy, and has symptoms including visual impairment, rod-cone dystrophy and optic disc pallor. An important gene associated with Retinitis Pigmentosa 26 is CERKL (Ceramide Kinase Like), and among its related pathways/superpathways are Sphingolipid metabolism and Phototransduction. Affiliated tissues include eye, and related phenotypes are Decreased telomerase activity and nervous system

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CERKL gene on chromosome 2q31.

Description from OMIM: 608380

Related Diseases for Retinitis Pigmentosa 26

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 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.1 CERK CERKL CNGA3 GUCY2D NEUROD1 PDE6D
2 oligocone trichromacy 10.4 CNGA3 CNGB3
3 achromatopsia 4 10.4 CNGA3 CNGB3
4 jalili syndrome 10.3 CNGA3 CNGB3
5 achromatopsia 2 10.3 CNGA3 CNGB3
6 type 1 diabetes mellitus 7 10.2 HMOX2 NEUROD1
7 achromatopsia 3 10.2 CNGA3 CNGB3 GUCY2D
8 retinitis pigmentosa 44 10.2 CNGA3 CNGB3 RPGR
9 mucinous stomach adenocarcinoma 10.2 ALDH7A1 SRC
10 cone dystrophy 10.1 CNGB3 GUCY2D RPGR
11 achromatopsia 10.1 CNGA3 CNGB3 RPGR
12 retinitis pigmentosa 72 10.1 CD7 RPGR
13 retinitis pigmentosa 50 10.1 CD7 RPGR
14 retinitis pigmentosa 3 10.1 PDE6D RPGR
15 spherocytosis, type 1 10.1 RPS23 SRC
16 leber congenital amaurosis 4 10.0
17 retinitis 10.0
18 cone-rod dystrophy 2 10.0 CERKL CNGB3 GUCY2D RPGR
19 cone-rod dystrophy 6 10.0 CNGA3 CNGB3 GUCY2D RPGR
20 color blindness 10.0 CNGA3 CNGB3
21 congenital stationary night blindness 9.9 CNGB3 GUCY2D RPGR
22 retinal disease 9.9 CNGA3 CNGB3 GUCY2D RPGR
23 leber congenital amaurosis 9.9 CNGA3 CNGB3 GUCY2D RPGR
24 schistosoma mansoni infection, susceptibility/ 9.9
25 schistosomiasis 9.9
26 fundus dystrophy 9.8 CERKL CNGA3 CNGB3 GUCY2D RPGR

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 26:



Diseases related to Retinitis Pigmentosa 26

Symptoms & Phenotypes for Retinitis Pigmentosa 26

Clinical features from OMIM:

608380

Human phenotypes related to Retinitis Pigmentosa 26:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 rod-cone dystrophy 31 HP:0000510
3 optic disc pallor 31 HP:0000543
4 attenuation of retinal blood vessels 31 HP:0007843
5 constriction of peripheral visual field 31 HP:0001133
6 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased telomerase activity GR00156-A 8.8 SRC CD7 CERK

MGI Mouse Phenotypes related to Retinitis Pigmentosa 26:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 CNGA3 CNGB3 GUCY2D HMOX2 NEUROD1 PDE6D
2 vision/eye MP:0005391 9.23 CNGB3 GUCY2D NEUROD1 PDE6D RPGR SRC

Drugs & Therapeutics for Retinitis Pigmentosa 26

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 26

Genetic Tests for Retinitis Pigmentosa 26

Genetic tests related to Retinitis Pigmentosa 26:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 26 28 CERKL

Anatomical Context for Retinitis Pigmentosa 26

MalaCards organs/tissues related to Retinitis Pigmentosa 26:

38
Eye

Publications for Retinitis Pigmentosa 26

Articles related to Retinitis Pigmentosa 26:

# Title Authors Year
1
Identification of a nuclear localization signal in the retinitis pigmentosa-mutated RP26 protein, ceramide kinase-like protein. ( 16581028 )
2006
2
Detection of IgG binding to Schistosoma mansoni recombinant protein RP26 is a sensitive and specific method for acute schistosomiasis diagnosis. ( 15710554 )
2005
3
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). ( 14681825 )
2004

Variations for Retinitis Pigmentosa 26

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 26:

71
# Symbol AA change Variation ID SNP ID
1 CERKL p.Arg106Ser VAR_065182 rs569826109

ClinVar genetic disease variations for Retinitis Pigmentosa 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CERKL NM_001030311.2(CERKL): c.420delT (p.Ile141Leufs) deletion Pathogenic rs398122962 GRCh37 Chromosome 2, 182468625: 182468625
2 CERKL NM_001030311.2(CERKL): c.598A> T (p.Lys200Ter) single nucleotide variant Pathogenic rs398122963 GRCh37 Chromosome 2, 182438495: 182438495
3 CERKL NM_001030311.2(CERKL): c.858delT (p.Pro287Leufs) deletion Pathogenic rs398122964 GRCh37 Chromosome 2, 182423333: 182423333
4 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh37 Chromosome 2, 182423344: 182423344
5 CERKL NM_001030311.2(CERKL): c.1425T> A (p.Tyr475Ter) single nucleotide variant Pathogenic rs770284500 GRCh37 Chromosome 2, 182409445: 182409445

Expression for Retinitis Pigmentosa 26

Search GEO for disease gene expression data for Retinitis Pigmentosa 26.

Pathways for Retinitis Pigmentosa 26

GO Terms for Retinitis Pigmentosa 26

Cellular components related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.73 CERKL HMOX2 ORMDL1 ORMDL2 ORMDL3 RPS23
2 photoreceptor outer segment GO:0001750 9.33 CERKL CNGB3 RPGR
3 transmembrane transporter complex GO:1902495 8.96 CNGA3 CNGB3
4 SPOTS complex GO:0035339 8.8 ORMDL1 ORMDL2 ORMDL3

Biological processes related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.77 CNGA3 CNGB3 GUCY2D PDE6D RPGR
2 visual perception GO:0007601 9.65 CNGA3 CNGB3 GUCY2D PDE6D RPGR
3 ceramide metabolic process GO:0006672 9.46 CERK ORMDL1 ORMDL2 ORMDL3
4 negative regulation of sphingolipid biosynthetic process GO:0090155 9.32 ORMDL1 ORMDL2
5 negative regulation of ceramide biosynthetic process GO:1900060 9.13 ORMDL1 ORMDL2 ORMDL3
6 cellular sphingolipid homeostasis GO:0090156 8.8 ORMDL1 ORMDL2 ORMDL3

Molecular functions related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NAD+ kinase activity GO:0003951 9.16 CERK CERKL
2 cGMP binding GO:0030553 8.96 CNGA3 CNGB3
3 intracellular cGMP activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Retinitis Pigmentosa 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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