MCID: RTN055
MIFTS: 34

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 57 12 53 75 29 13 6 15 73
Rp26 57 12 75
Retinitis Pigmentosa, Type 26 40
Rp 26 53

Characteristics:

HPO:

32
retinitis pigmentosa 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608380
Disease Ontology 12 DOID:0110368
ICD10 33 H35.5
MedGen 42 C1842127
MeSH 44 D012174
UMLS 73 C1842127

Summaries for Retinitis Pigmentosa 26

UniProtKB/Swiss-Prot : 75 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 Phototransduction. Affiliated tissues include eye, and related phenotypes are visual impairment and rod-cone dystrophy

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 28)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.6 CERK CERKL CNGA3 GUCY2D NEUROD1 PDE6D
2 oligocone trichromacy 10.7 CNGA3 CNGB3
3 achromatopsia 4 10.6 CNGA3 CNGB3
4 jalili syndrome 10.6 CNGA3 CNGB3
5 achromatopsia 2 10.5 CNGA3 CNGB3
6 type 1 diabetes mellitus 7 10.4 HMOX2 NEUROD1
7 choroid disease 10.4 CNGB3 RPGR
8 blue cone monochromacy 10.4 CNGA3 CNGB3
9 yemenite deaf-blind hypopigmentation syndrome 10.4 GUCY2D RPGR
10 achromatopsia 3 10.3 CNGA3 CNGB3 GUCY2D
11 tritanopia 10.3 CNGB3 GUCY2D
12 retinitis pigmentosa 44 10.3 CNGA3 CNGB3 RPGR
13 mucinous stomach adenocarcinoma 10.3 ALDH7A1 SRC
14 spherocytosis, type 1 10.3 RPS23 SRC
15 retinitis pigmentosa 72 10.3 CD7 RPGR
16 retinitis pigmentosa 3 10.3 PDE6D RPGR
17 achromatopsia 10.2 CNGA3 CNGB3 RPGR
18 retinitis pigmentosa 50 10.2 CD7 RPGR
19 retinoschisis 1, x-linked, juvenile 10.1 CNGB3 RPGR
20 leber congenital amaurosis 4 10.0
21 retinitis 10.0
22 cone-rod dystrophy 2 10.0 CERKL CNGB3 GUCY2D RPGR
23 cone-rod dystrophy 6 10.0 CNGA3 CNGB3 GUCY2D RPGR
24 retinal disease 9.9 CNGA3 CNGB3 GUCY2D RPGR
25 color blindness 9.9 CNGA3 CNGB3
26 schistosomiasis 9.9
27 leber congenital amaurosis 9.9 CNGA3 CNGB3 GUCY2D RPGR
28 fundus dystrophy 9.7 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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 optic disc pallor 32 HP:0000543
4 constriction of peripheral visual field 32 HP:0001133
5 undetectable light- and dark-adapted electroretinogram 32 HP:0007688
6 attenuation of retinal blood vessels 32 HP:0007843

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

26
# 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:

46
# 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 CERKL CNGA3 CNGB3 GUCY2D NEUROD1 PDE6D

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 29 CERKL

Anatomical Context for Retinitis Pigmentosa 26

MalaCards organs/tissues related to Retinitis Pigmentosa 26:

41
Eye

Publications for Retinitis Pigmentosa 26

Variations for Retinitis Pigmentosa 26

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

75
# 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 28)
# 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.974-18T> A single nucleotide variant Benign rs13003064 GRCh37 Chromosome 2, 182413602: 182413602
10 CERKL NM_001030311.2(CERKL): c.974-18T> A single nucleotide variant Benign rs13003064 GRCh38 Chromosome 2, 181548875: 181548875
11 CERKL NM_001030311.2(CERKL): c.239-12T> A single nucleotide variant Benign/Likely benign rs6433923 GRCh37 Chromosome 2, 182468818: 182468818
12 CERKL NM_001030311.2(CERKL): c.239-12T> A single nucleotide variant Benign/Likely benign rs6433923 GRCh38 Chromosome 2, 181604091: 181604091
13 CERKL NM_201548.4(CERKL): c.66C> G (p.Pro22=) single nucleotide variant Conflicting interpretations of pathogenicity rs199762900 GRCh37 Chromosome 2, 182521668: 182521668
14 CERKL NM_201548.4(CERKL): c.66C> G (p.Pro22=) single nucleotide variant Conflicting interpretations of pathogenicity rs199762900 GRCh38 Chromosome 2, 181656941: 181656941
15 CERKL NM_201548.4(CERKL): c.820+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs189638090 GRCh37 Chromosome 2, 182423284: 182423284
16 CERKL NM_201548.4(CERKL): c.820+9G> A single nucleotide variant Conflicting interpretations of pathogenicity rs189638090 GRCh38 Chromosome 2, 181558557: 181558557
17 CERKL NM_201548.4(CERKL): c.674A> T (p.Asp225Val) single nucleotide variant no interpretation for the single variant rs863224855 GRCh38 Chromosome 2, 181566061: 181566061
18 CERKL NM_201548.4(CERKL): c.674A> T (p.Asp225Val) single nucleotide variant no interpretation for the single variant rs863224855 GRCh37 Chromosome 2, 182430788: 182430788
19 CERKL NM_001030311.2(CERKL): c.1425T> A (p.Tyr475Ter) single nucleotide variant Pathogenic rs770284500 GRCh37 Chromosome 2, 182409445: 182409445
20 CERKL NM_001030311.2(CERKL): c.1425T> A (p.Tyr475Ter) single nucleotide variant Pathogenic rs770284500 GRCh38 Chromosome 2, 181544718: 181544718
21 CERKL NM_201548.4(CERKL): c.735G> C (p.Leu245=) single nucleotide variant Conflicting interpretations of pathogenicity rs140898616 GRCh37 Chromosome 2, 182423378: 182423378
22 CERKL NM_201548.4(CERKL): c.735G> C (p.Leu245=) single nucleotide variant Conflicting interpretations of pathogenicity rs140898616 GRCh38 Chromosome 2, 181558651: 181558651
23 CERKL NM_001030311.2(CERKL): c.365T> G (p.Leu122Arg) single nucleotide variant Uncertain significance rs558913945 GRCh37 Chromosome 2, 182468680: 182468680
24 CERKL NM_001030311.2(CERKL): c.365T> G (p.Leu122Arg) single nucleotide variant Uncertain significance rs558913945 GRCh38 Chromosome 2, 181603953: 181603953
25 CERKL NM_001030311.2(CERKL): c.1628_1632dup (p.Ile545Aspfs) duplication Pathogenic GRCh38 Chromosome 2, 181538229: 181538233
26 CERKL NM_001030311.2(CERKL): c.1628_1632dup (p.Ile545Aspfs) duplication Pathogenic GRCh37 Chromosome 2, 182402956: 182402960
27 CERKL NM_001030311.2(CERKL): c.239-2A> G single nucleotide variant Pathogenic rs776886395 GRCh38 Chromosome 2, 181604081: 181604081
28 CERKL NM_001030311.2(CERKL): c.239-2A> G single nucleotide variant Pathogenic rs776886395 GRCh37 Chromosome 2, 182468808: 182468808

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 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 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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