RP26
MCID: RTN055
MIFTS: 33

Retinitis Pigmentosa 26 (RP26)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 26

MalaCards integrated aliases for Retinitis Pigmentosa 26:

Name: Retinitis Pigmentosa 26 58 12 54 76 30 13 6 15 74
Rp26 58 12 76
Retinitis Pigmentosa, Type 26 41
Rp 26 54

Characteristics:

HPO:

33
retinitis pigmentosa 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110368
OMIM 58 608380
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1842127
UMLS 74 C1842127

Summaries for Retinitis Pigmentosa 26

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Retinitis Pigmentosa 26 is CERKL (Ceramide Kinase Like), and among its related pathways/superpathways are Sphingolipid metabolism and Visual Cycle in Retinal Rods. Affiliated tissues include eye, and related phenotypes are rod-cone dystrophy and optic disc pallor

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 26 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 29.6 CERK CERKL CNGA3 ITGA4 NEUROD1 PDE6D
2 oligocone trichromacy 10.3 CNGA3 CNGB3
3 achromatopsia 4 10.3 CNGA3 CNGB3
4 jalili syndrome 10.3 CNGA3 CNGB3
5 achromatopsia 2 10.2 CNGA3 CNGB3
6 leber congenital amaurosis 4 10.2
7 schistosomiasis 10.2
8 retinitis 10.2
9 cone-rod dystrophy 8 10.2 CNGA3 CNGB3
10 choroid disease 10.2 CNGB3 RPGR
11 type 1 diabetes mellitus 7 10.2 HMOX2 NEUROD1
12 cone-rod dystrophy 12 10.2 CERKL NEUROD1
13 cone-rod dystrophy 9 10.2 CNGA3 CNGB3
14 retinitis pigmentosa 72 10.1 CD7 RPGR
15 retinitis pigmentosa 44 10.1 CNGA3 CNGB3 RPGR
16 retinitis pigmentosa 3 10.1 PDE6D RPGR
17 achromatopsia 10.1 CNGA3 CNGB3 RPGR
18 retinitis pigmentosa 50 10.1 CD7 RPGR
19 blue cone monochromacy 10.1 CNGA3 CNGB3
20 fundus dystrophy 10.0 CERKL CNGA3 CNGB3 RPGR
21 cone-rod dystrophy 6 10.0 CNGA3 CNGB3 PDE6D RPGR
22 color blindness 10.0 CNGA3 CNGB3

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



Diseases related to Retinitis Pigmentosa 26

Symptoms & Phenotypes for Retinitis Pigmentosa 26

Human phenotypes related to Retinitis Pigmentosa 26:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510
2 optic disc pallor 33 HP:0000543
3 constriction of peripheral visual field 33 HP:0001133
4 attenuation of retinal blood vessels 33 HP:0007843
5 undetectable light- and dark-adapted electroretinogram 33 HP:0007688

Clinical features from OMIM:

608380

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased telomerase activity GR00156-A 8.8 CD7 CERK SRC

MGI Mouse Phenotypes related to Retinitis Pigmentosa 26:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 CERKL CNGA3 CNGB3 NEUROD1 PDE6D RPGR

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 30 CERKL

Anatomical Context for Retinitis Pigmentosa 26

MalaCards organs/tissues related to Retinitis Pigmentosa 26:

42
Eye

Publications for Retinitis Pigmentosa 26

Articles related to Retinitis Pigmentosa 26:

# 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
Identification of a nuclear localization signal in the retinitis pigmentosa-mutated RP26 protein, ceramide kinase-like protein. ( 16581028 )
2006
3
Detection of IgG binding to Schistosoma mansoni recombinant protein RP26 is a sensitive and specific method for acute schistosomiasis diagnosis. ( 15710554 )
2005
4
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). ( 14681825 )
2004
5
Serological differentiation of acute and chronic schistosomiasis using Schistosoma mansoni recombinant protein RP26. ( 14665383 )
2003

Variations for Retinitis Pigmentosa 26

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

76
# Symbol AA change Variation ID SNP ID
1 CERKL p.Arg106Ser VAR_065182 rs569826109

ClinVar genetic disease variations for Retinitis Pigmentosa 26:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh37 Chromosome 2, 182423344: 182423344
2 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh38 Chromosome 2, 181558617: 181558617
3 CERKL NM_001030311.2(CERKL): c.420delT (p.Ile141Leufs) deletion Pathogenic rs398122962 GRCh37 Chromosome 2, 182468625: 182468625
4 CERKL NM_001030311.2(CERKL): c.420delT (p.Ile141Leufs) deletion Pathogenic rs398122962 GRCh38 Chromosome 2, 181603898: 181603898
5 CERKL NM_001030311.2(CERKL): c.598A> T (p.Lys200Ter) single nucleotide variant Pathogenic rs398122963 GRCh37 Chromosome 2, 182438495: 182438495
6 CERKL NM_001030311.2(CERKL): c.598A> T (p.Lys200Ter) single nucleotide variant Pathogenic rs398122963 GRCh38 Chromosome 2, 181573768: 181573768
7 CERKL NM_001030311.2(CERKL): c.858delT (p.Pro287Leufs) deletion Pathogenic rs398122964 GRCh37 Chromosome 2, 182423333: 182423333
8 CERKL NM_001030311.2(CERKL): c.858delT (p.Pro287Leufs) deletion Pathogenic rs398122964 GRCh38 Chromosome 2, 181558606: 181558606
9 CERKL NM_001030311.2(CERKL): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs727503856 GRCh37 Chromosome 2, 182413446: 182413446
10 CERKL NM_001030311.2(CERKL): c.1112G> A (p.Arg371Gln) single nucleotide variant Uncertain significance rs727503856 GRCh38 Chromosome 2, 181548719: 181548719
11 CERKL NM_001030311.2(CERKL): c.974-18T> A single nucleotide variant Benign rs13003064 GRCh37 Chromosome 2, 182413602: 182413602
12 CERKL NM_001030311.2(CERKL): c.974-18T> A single nucleotide variant Benign rs13003064 GRCh38 Chromosome 2, 181548875: 181548875
13 CERKL NM_001030311.2(CERKL): c.239-12T> A single nucleotide variant Benign/Likely benign rs6433923 GRCh37 Chromosome 2, 182468818: 182468818
14 CERKL NM_001030311.2(CERKL): c.239-12T> A single nucleotide variant Benign/Likely benign rs6433923 GRCh38 Chromosome 2, 181604091: 181604091
15 CERKL NM_201548.4(CERKL): c.66C> G (p.Pro22=) single nucleotide variant Conflicting interpretations of pathogenicity rs199762900 GRCh37 Chromosome 2, 182521668: 182521668
16 CERKL NM_201548.4(CERKL): c.66C> G (p.Pro22=) single nucleotide variant Conflicting interpretations of pathogenicity rs199762900 GRCh38 Chromosome 2, 181656941: 181656941
17 CERKL NM_201548.4(CERKL): c.820+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs189638090 GRCh37 Chromosome 2, 182423284: 182423284
18 CERKL NM_201548.4(CERKL): c.820+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs189638090 GRCh38 Chromosome 2, 181558557: 181558557
19 CERKL NM_201548.4(CERKL): c.735G> C (p.Leu245=) single nucleotide variant Conflicting interpretations of pathogenicity rs140898616 GRCh38 Chromosome 2, 181558651: 181558651
20 CERKL NM_201548.4(CERKL): c.735G> C (p.Leu245=) single nucleotide variant Conflicting interpretations of pathogenicity rs140898616 GRCh37 Chromosome 2, 182423378: 182423378
21 CERKL NM_001030311.2(CERKL): c.1151+3_1151+6delAAGT deletion Likely pathogenic rs1553513437 GRCh38 Chromosome 2, 181548674: 181548677
22 CERKL NM_001030311.2(CERKL): c.1151+3_1151+6delAAGT deletion Likely pathogenic rs1553513437 GRCh37 Chromosome 2, 182413401: 182413404
23 CERKL NM_001030311.2(CERKL): c.613+4_613+5delAG deletion Uncertain significance rs766131721 GRCh38 Chromosome 2, 181573748: 181573749
24 CERKL NM_001030311.2(CERKL): c.613+4_613+5delAG deletion Uncertain significance rs766131721 GRCh37 Chromosome 2, 182438475: 182438476
25 CERKL NM_001030311.2(CERKL): c.365T> G (p.Leu122Arg) single nucleotide variant Uncertain significance rs558913945 GRCh37 Chromosome 2, 182468680: 182468680
26 CERKL NM_001030311.2(CERKL): c.365T> G (p.Leu122Arg) single nucleotide variant Uncertain significance rs558913945 GRCh38 Chromosome 2, 181603953: 181603953
27 CERKL NM_001030311.2(CERKL): c.1628_1632dup (p.Ile545Aspfs) duplication Pathogenic rs773497189 GRCh38 Chromosome 2, 181538229: 181538233
28 CERKL NM_001030311.2(CERKL): c.1628_1632dup (p.Ile545Aspfs) duplication Pathogenic rs773497189 GRCh37 Chromosome 2, 182402956: 182402960
29 CERKL NM_001030311.2(CERKL): c.239-2A> G single nucleotide variant Pathogenic rs776886395 GRCh37 Chromosome 2, 182468808: 182468808
30 CERKL NM_001030311.2(CERKL): c.239-2A> G single nucleotide variant Pathogenic rs776886395 GRCh38 Chromosome 2, 181604081: 181604081
31 CERKL NM_001030311.2(CERKL): c.1381C> T (p.Arg461Ter) single nucleotide variant Likely pathogenic rs1187839124 GRCh37 Chromosome 2, 182409489: 182409489
32 CERKL NM_001030311.2(CERKL): c.1381C> T (p.Arg461Ter) single nucleotide variant Likely pathogenic rs1187839124 GRCh38 Chromosome 2, 181544762: 181544762

Expression for Retinitis Pigmentosa 26

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

Pathways for Retinitis Pigmentosa 26

Pathways related to Retinitis Pigmentosa 26 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.33 CERK ORMDL1 ORMDL2 ORMDL3
2 11.1 CNGA3 CNGB3 PDE6D
3 10.69 CNGA3 CNGB3 PDE6D

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 visual perception GO:0007601 9.62 CNGA3 CNGB3 PDE6D RPGR
2 ceramide metabolic process GO:0006672 9.46 CERK ORMDL1 ORMDL2 ORMDL3
3 negative regulation of sphingolipid biosynthetic process GO:0090155 9.26 ORMDL1 ORMDL2
4 cellular sphingolipid homeostasis GO:0090156 9.13 ORMDL1 ORMDL2 ORMDL3
5 negative regulation of ceramide biosynthetic process GO:1900060 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 cGMP binding GO:0030553 9.26 CNGA3 CNGB3
2 NAD+ kinase activity GO:0003951 9.16 CERK CERKL
3 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGA3 CNGB3
4 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
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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