RP12
MCID: RTN042
MIFTS: 42

Retinitis Pigmentosa 12 (RP12)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 12

MalaCards integrated aliases for Retinitis Pigmentosa 12:

Name: Retinitis Pigmentosa 12 57 12 20 72 29 6 15 70
Rp12 57 12 72
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium 57 72
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium 57 72
Rp with or Without Pprpe 57 72
Retinitis Pigmentosa-12 57
Rp 12 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
childhood onset

Inheritance:
autosomal recessive


HPO:

31
retinitis pigmentosa 12:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110358
OMIM® 57 600105
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C1838647
SNOMED-CT via HPO 68 258211005 28835009 563001 more
UMLS 70 C1838647

Summaries for Retinitis Pigmentosa 12

UniProtKB/Swiss-Prot : 72 Retinitis pigmentosa 12: 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. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia.

MalaCards based summary : Retinitis Pigmentosa 12, also known as rp12, is related to leber congenital amaurosis 8 and leber plus disease. An important gene associated with Retinitis Pigmentosa 12 is CRB1 (Crumbs Cell Polarity Complex Component 1), and among its related pathways/superpathways are tRNA Aminoacylation and Hippo signaling pathway. Affiliated tissues include eye, retina and pituitary, and related phenotypes are nystagmus and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CRB1 gene on chromosome 1q31.3.

More information from OMIM: 600105 PS268000

Related Diseases for Retinitis Pigmentosa 12

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 8 30.1 PALS1 CRB2 CRB1
2 leber plus disease 29.6 RP9 PATJ PALS1 CRB2 CRB1
3 retinitis pigmentosa 10.3
4 neuroretinitis 10.3
5 retinitis 10.3
6 retinitis pigmentosa 33 10.2 RP9 MT-TV
7 intraorbital meningioma 10.2 PATJ PALS1
8 fasciolopsiasis 10.1 MT-TV MT-TT
9 noonan syndrome 2 10.1 MT-TV MT-TI MT-TH
10 mitochondrial dna-associated leigh syndrome 10.1 MT-TV MT-TK
11 pthirus pubis infestation 10.1 MT-TV MT-TI MT-TH
12 lice infestation 10.1 MT-TV MT-TI MT-TH
13 mitochondrial dna-associated leigh syndrome and narp 10.1 MT-TV MT-TK
14 parasitic ectoparasitic infectious disease 10.1 MT-TV MT-TI MT-TH
15 retinitis pigmentosa 36 10.1 MT-TV MT-TK
16 deafness, nonsyndromic sensorineural, mitochondrial 10.0 MT-TI MT-TH
17 retinitis pigmentosa 20 10.0 RP9 MT-TV MT-TK
18 retinitis pigmentosa 32 10.0 MT-TV MT-TK
19 retinitis pigmentosa 22 10.0 MT-TV MT-TK
20 leukorrhea 10.0 MT-TK MT-TG
21 chronic progressive external ophthalmoplegia 10.0 MT-TN MT-TK MT-TI
22 trench fever 10.0 MT-TT MT-TN MT-TD
23 parkinson disease, mitochondrial 10.0 MT-TT MT-TK
24 mitochondrial myopathy 9.9 MT-TT MT-TR MT-TD
25 carbuncle 9.9 MT-TT MT-TH MT-TD
26 fundus dystrophy 9.9
27 mitochondrial encephalomyopathy 9.9 MT-TT MT-TR MT-TK
28 myoclonic epilepsy associated with ragged-red fibers 9.9 MT-TN MT-TK MT-TI MT-TH
29 hermaphroditism 9.9 MT-TT MT-TH
30 contractural arachnodactyly, congenital 9.9 MT-TK MT-TI MT-TG
31 endometrial stromal tumor 9.8 MT-TH MT-TG
32 dicrocoeliasis 9.7 MT-TT MT-TK MT-TG
33 mitochondrial disorders 9.7 MT-TT MT-TN MT-TK MT-TI
34 myasthenic syndrome, congenital, 10 9.6 MT-TT MT-TK MT-TH MT-TG
35 retinitis pigmentosa 14 9.5 RP9 MT-TV MT-TT MT-TK MT-TG
36 mental retardation, autosomal dominant 30 9.3 MT-TV MT-TT MT-TR MT-TK MT-TH MT-TG
37 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 8.8 MT-TV MT-TT MT-TR MT-TN MT-TK MT-TI
38 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.8 MT-TV MT-TT MT-TR MT-TN MT-TK MT-TI

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 12:



Diseases related to Retinitis Pigmentosa 12

Symptoms & Phenotypes for Retinitis Pigmentosa 12

Human phenotypes related to Retinitis Pigmentosa 12:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
retinitis pigmentosa
night blindness (before age 3 years)
concentric visual field loss
attenuation of retinal arterioles
more

Clinical features from OMIM®:

600105 (Updated 20-May-2021)

Drugs & Therapeutics for Retinitis Pigmentosa 12

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 12

Genetic Tests for Retinitis Pigmentosa 12

Genetic tests related to Retinitis Pigmentosa 12:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 12 29 CRB1

Anatomical Context for Retinitis Pigmentosa 12

MalaCards organs/tissues related to Retinitis Pigmentosa 12:

40
Eye, Retina, Pituitary, Bone

Publications for Retinitis Pigmentosa 12

Articles related to Retinitis Pigmentosa 12:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 57 6 61
11389483 2001
2
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 61 6 57
10508521 1999
3
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. 6 57
19140180 2009
4
Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa. 57 6
1427914 1992
5
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. 61 6
20956273 2011
6
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. 6 61
16505055 2006
7
Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r) 61 57
10905894 2000
8
Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). 61 57
8646891 1996
9
Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. 61 57
8001962 1994
10
DIFFUSE RETINAL VASCULAR LEAKAGE AND CONE-ROD DYSTROPHY IN A FAMILY WITH THE HOMOZYGOUS MISSENSE C.1429G>A (P.GLY477ARG) MUTATION IN CRB1. 6
29200130 2020
11
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. 6
29844330 2018
12
A clinical and molecular characterisation of CRB1-associated maculopathy. 6
29391521 2018
13
Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. 6
29068479 2018
14
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa. 6
29641573 2018
15
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 6
30576320 2018
16
Retinal capillaritis in a CRB1-associated retinal dystrophy. 6
28129017 2017
17
The genetic profile of Leber congenital amaurosis in an Australian cohort. 6
29178642 2017
18
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 6
28559085 2017
19
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. 6
28819299 2017
20
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. 6
28341475 2017
21
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. 6
28512305 2017
22
Isolated maculopathy associated with biallelic CRB1 mutations. 6
27096895 2017
23
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 6
28181551 2017
24
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 6
28041643 2017
25
LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability. 6
27380427 2017
26
Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing. 6
27806333 2016
27
Molecular findings from 537 individuals with inherited retinal disease. 6
27208204 2016
28
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. 6
27113771 2016
29
Atypical presentation of CRB1 retinopathy. 6
26914788 2016
30
Whole exome sequencing identified novel CRB1 mutations in Chinese and Indian populations with autosomal recessive retinitis pigmentosa. 6
27670293 2016
31
Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. 6
26957898 2016
32
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. 6
26047050 2015
33
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 6
25412400 2015
34
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 6
25356976 2015
35
Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene. 6
24512366 2015
36
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. 6
26147992 2015
37
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. 6
24938718 2014
38
Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening. 6
24535598 2014
39
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies. 6
24715753 2014
40
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 6
25133751 2014
41
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 6
23847139 2013
42
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. 6
23661368 2013
43
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. 6
22968130 2013
44
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. 6
23462753 2013
45
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations. 6
23449718 2013
46
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population. 6
23379534 2013
47
A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa. 6
23592920 2013
48
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 6
24265693 2013
49
Active human retrotransposons: variation and disease. 6
22406018 2012
50
CRB1 mutations in inherited retinal dystrophies. 6
22065545 2012

Variations for Retinitis Pigmentosa 12

ClinVar genetic disease variations for Retinitis Pigmentosa 12:

6 (show top 50) (show all 301)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRB1 CRB1, ALU INS, NT2320 Insertion Pathogenic 5729 GRCh37:
GRCh38:
2 CRB1 NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) SNV Pathogenic 5730 rs62635656 GRCh37: 1:197404115-197404115
GRCh38: 1:197434985-197434985
3 CRB1 NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter) SNV Pathogenic 5731 rs62635655 GRCh37: 1:197403976-197403976
GRCh38: 1:197434846-197434846
4 CRB1 NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) SNV Pathogenic 5732 rs62635654 GRCh37: 1:197396745-197396745
GRCh38: 1:197427615-197427615
5 CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) SNV Pathogenic 5733 rs28939720 GRCh37: 1:197396689-197396689
GRCh38: 1:197427559-197427559
6 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) SNV Pathogenic 5736 rs137853137 GRCh37: 1:197396856-197396856
GRCh38: 1:197427726-197427726
7 CRB1 NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) SNV Pathogenic 5737 rs62636291 GRCh37: 1:197404534-197404534
GRCh38: 1:197435404-197435404
8 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) SNV Pathogenic 39614 rs62645748 GRCh37: 1:197403836-197403836
GRCh38: 1:197434706-197434706
9 CRB1 NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) SNV Pathogenic 99883 rs62636271 GRCh37: 1:197397010-197397010
GRCh38: 1:197427880-197427880
10 CRB1 NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) SNV Pathogenic 565382 rs776591659 GRCh37: 1:197397003-197397003
GRCh38: 1:197427873-197427873
11 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) SNV Pathogenic 5736 rs137853137 GRCh37: 1:197396856-197396856
GRCh38: 1:197427726-197427726
12 CRB1 NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) SNV Pathogenic 143167 rs114342808 GRCh37: 1:197390534-197390534
GRCh38: 1:197421404-197421404
13 CRB1 NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) SNV Pathogenic 99870 rs62636264 GRCh37: 1:197390396-197390396
GRCh38: 1:197421266-197421266
14 CRB1 NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) Deletion Pathogenic 96659 rs398124615 GRCh37: 1:197297974-197297982
GRCh38: 1:197328844-197328852
15 CRB1 NC_000001.11:g.(?_197268194)_(197268492_?)del Deletion Pathogenic 646396 GRCh37: 1:197237324-197237622
GRCh38: 1:197268194-197268492
16 CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) SNV Pathogenic 5733 rs28939720 GRCh37: 1:197396689-197396689
GRCh38: 1:197427559-197427559
17 overlap with 3 genes NC_000001.11:g.(?_197084314)_(197478465_?)del Deletion Pathogenic 830716 GRCh37: 1:197053444-197447595
GRCh38:
18 CRB1 NC_000001.11:g.(?_197328412)_(197442544_?)del Deletion Pathogenic 832442 GRCh37: 1:197297542-197411674
GRCh38:
19 CRB1 NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) SNV Pathogenic 521051 rs564754426 GRCh37: 1:197404165-197404165
GRCh38: 1:197435035-197435035
20 CRB1 NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) SNV Pathogenic 265083 rs764256655 GRCh37: 1:197298065-197298065
GRCh38: 1:197328935-197328935
21 CRB1 NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) Deletion Pathogenic 801599 rs745348555 GRCh37: 1:197396986-197396992
GRCh38: 1:197427856-197427862
22 CRB1 NM_201253.3(CRB1):c.993_994CA[1] (p.Thr332fs) Microsatellite Pathogenic 840786 GRCh37: 1:197325964-197325965
GRCh38: 1:197356834-197356835
23 CRB1 NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) SNV Pathogenic 841844 GRCh37: 1:197411413-197411413
GRCh38: 1:197442283-197442283
24 CRB1 NM_201253.3(CRB1):c.661_662TG[1] (p.Cys221_Glu222delinsTer) Microsatellite Pathogenic 844387 GRCh37: 1:197313419-197313420
GRCh38: 1:197344289-197344290
25 CRB1 NM_201253.3(CRB1):c.1697del (p.Glu566fs) Deletion Pathogenic 844579 GRCh37: 1:197390655-197390655
GRCh38: 1:197421525-197421525
26 CRB1 NM_201253.3(CRB1):c.3988del (p.Glu1330fs) Deletion Pathogenic 377183 rs1057520152 GRCh37: 1:197411405-197411405
GRCh38: 1:197442275-197442275
27 CRB1 NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) SNV Pathogenic 846589 GRCh37: 1:197404007-197404007
GRCh38: 1:197434877-197434877
28 CRB1 NM_201253.3(CRB1):c.4006-10A>G SNV Pathogenic 851764 GRCh37: 1:197446784-197446784
GRCh38: 1:197477654-197477654
29 CRB1 NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) SNV Pathogenic 848307 GRCh37: 1:197326108-197326108
GRCh38: 1:197356978-197356978
30 CRB1 NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) SNV Pathogenic 5732 rs62635654 GRCh37: 1:197396745-197396745
GRCh38: 1:197427615-197427615
31 CRB1 Insertion Pathogenic 870263 GRCh37:
GRCh38:
32 CRB1 NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) SNV Pathogenic 933277 GRCh37: 1:197390799-197390799
GRCh38: 1:197421669-197421669
33 CRB1 NM_201253.3(CRB1):c.2129-1G>C SNV Pathogenic 935257 GRCh37: 1:197396583-197396583
GRCh38: 1:197427453-197427453
34 CRB1 NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs) Duplication Pathogenic 935258 GRCh37: 1:197404102-197404103
GRCh38: 1:197434972-197434973
35 CRB1 NM_201253.3(CRB1):c.379C>T (p.Gln127Ter) SNV Pathogenic 936131 GRCh37: 1:197297860-197297860
GRCh38: 1:197328730-197328730
36 CRB1 NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) SNV Pathogenic 866829 GRCh37: 1:197390387-197390387
GRCh38: 1:197421257-197421257
37 CRB1 NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter) SNV Pathogenic 938912 GRCh37: 1:197390907-197390907
GRCh38: 1:197421777-197421777
38 CRB1 NM_201253.3(CRB1):c.3395_3879-490del Deletion Pathogenic 940575 GRCh37: 1:197404386-197410804
GRCh38: 1:197435256-197441674
39 CRB1 NM_201253.3(CRB1):c.4039del (p.Thr1347fs) Deletion Pathogenic 587385 rs745422941 GRCh37: 1:197446827-197446827
GRCh38: 1:197477697-197477697
40 CRB1 NM_201253.3(CRB1):c.2842+1delinsAA Indel Pathogenic 975813 GRCh37: 1:197398745-197398745
GRCh38: 1:197429615-197429615
41 CRB1 NM_201253.3(CRB1):c.2578del (p.Gln860fs) Deletion Pathogenic 957724 GRCh37: 1:197397032-197397032
GRCh38: 1:197427902-197427902
42 CRB1 NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) SNV Pathogenic 620109 rs778627080 GRCh37: 1:197326056-197326056
GRCh38: 1:197356926-197356926
43 CRB1 NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) SNV Pathogenic 955768 GRCh37: 1:197390339-197390339
GRCh38: 1:197421209-197421209
44 CRB1 NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter) SNV Pathogenic 957484 GRCh37: 1:197411369-197411369
GRCh38: 1:197442239-197442239
45 CRB1 NM_201253.3(CRB1):c.523_532dup (p.Tyr178fs) Duplication Pathogenic 969380 GRCh37: 1:197298002-197298003
GRCh38: 1:197328872-197328873
46 CRB1 NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) Indel Pathogenic 971038 GRCh37: 1:197404136-197404147
GRCh38: 1:197435006-197435017
47 CRB1 NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) Indel Pathogenic 287179 rs886043587 GRCh37: 1:197313557-197313558
GRCh38: 1:197344427-197344428
48 CRB1 NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC (p.Arg744fs) Insertion Pathogenic 953654 GRCh37: 1:197396683-197396684
GRCh38: 1:197427553-197427554
49 CRB1 NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) SNV Pathogenic 285386 rs115352681 GRCh37: 1:197390140-197390140
GRCh38: 1:197421010-197421010
50 CRB1 NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) SNV Pathogenic 236478 rs767648174 GRCh37: 1:197396763-197396763
GRCh38: 1:197427633-197427633

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 12:

72 (show all 37)
# Symbol AA change Variation ID SNP ID
1 CRB1 p.Ala161Val VAR_011641 rs62635651
2 CRB1 p.Cys250Trp VAR_011642 rs62635652
3 CRB1 p.Thr745Met VAR_011643 rs28939720
4 CRB1 p.Arg764Cys VAR_011644 rs62635654
5 CRB1 p.Cys948Tyr VAR_011645 rs62645748
6 CRB1 p.Met1041Thr VAR_011646 rs62635656
7 CRB1 p.Leu1071Pro VAR_011647 rs62635657
8 CRB1 p.Cys1181Arg VAR_011649 rs62636291
9 CRB1 p.Cys195Phe VAR_022943 rs764256655
10 CRB1 p.Tyr433Cys VAR_022947 rs62636288
11 CRB1 p.Val578Glu VAR_022950 rs126636394
12 CRB1 p.Cys587Tyr VAR_022952 rs147132849
13 CRB1 p.Pro836Thr VAR_022960 rs116471343
14 CRB1 p.Asp837His VAR_022961 rs62636289
15 CRB1 p.Gly846Arg VAR_022962 rs539189291
16 CRB1 p.Gly850Ser VAR_022963 rs776591659
17 CRB1 p.Cys891Gly VAR_022965 rs62635658
18 CRB1 p.Asn986Ile VAR_022970
19 CRB1 p.Ile1100Thr VAR_022973 rs62635659
20 CRB1 p.Gly1103Arg VAR_022974 rs62636275
21 CRB1 p.Leu1107Arg VAR_022976 rs62636276
22 CRB1 p.Ala1354Thr VAR_022982 rs200469148
23 CRB1 p.Arg1383His VAR_022983 rs200573274
24 CRB1 p.Cys27Phe VAR_064180 rs146094638
25 CRB1 p.Cys1165Trp VAR_064181
26 CRB1 p.Cys45Trp VAR_067125 rs145141811
27 CRB1 p.Cys157Ser VAR_067126
28 CRB1 p.Asn312Lys VAR_067130
29 CRB1 p.Trp675Cys VAR_067139
30 CRB1 p.Glu710Val VAR_067140 rs145282040
31 CRB1 p.Ser740Phe VAR_067141
32 CRB1 p.Leu1012Ser VAR_067149
33 CRB1 p.Ser1025Asn VAR_067150
34 CRB1 p.Thr1099Lys VAR_067151
35 CRB1 p.Cys1174Gly VAR_067153 rs917768074
36 CRB1 p.Pro1305Leu VAR_067156 rs139191086
37 CRB1 p.Lys534Asn VAR_068363

Expression for Retinitis Pigmentosa 12

Search GEO for disease gene expression data for Retinitis Pigmentosa 12.

Pathways for Retinitis Pigmentosa 12

Pathways related to Retinitis Pigmentosa 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.52 MT-TV MT-TT MT-TR MT-TN MT-TK MT-TI
2 11.45 PATJ PALS1 CRB2 CRB1

GO Terms for Retinitis Pigmentosa 12

Cellular components related to Retinitis Pigmentosa 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.46 PATJ PALS1 CRB2 CRB1
2 bicellular tight junction GO:0005923 9.13 PATJ PALS1 LIN7A
3 apical part of cell GO:0045177 8.8 PALS1 CRB2 CRB1

Biological processes related to Retinitis Pigmentosa 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.32 CRB1 CRB2
2 gene expression GO:0010467 9.26 CRB1 PALS1
3 plasma membrane organization GO:0007009 9.16 CRB1 PALS1
4 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 8.96 CRB1 CRB2
5 maintenance of epithelial cell apical/basal polarity GO:0045199 8.62 CRB2 LIN7A

Sources for Retinitis Pigmentosa 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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