RP12
MCID: RTN042
MIFTS: 34

Retinitis Pigmentosa 12 (RP12)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 12

MalaCards integrated aliases for Retinitis Pigmentosa 12:

Name: Retinitis Pigmentosa 12 58 12 54 76 30 6 15 74
Rp12 58 12 76
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium 58 76
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium 58 76
Rp with or Without Pprpe 58 76
Retinitis Pigmentosa-12 58
Rp 12 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
childhood onset


HPO:

33
retinitis pigmentosa 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110358
OMIM 58 600105
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C1838647
SNOMED-CT via HPO 70 258211005 28835009 563001 more
UMLS 74 C1838647

Summaries for Retinitis Pigmentosa 12

UniProtKB/Swiss-Prot : 76 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 retinitis pigmentosa and leber congenital amaurosis 4. An important gene associated with Retinitis Pigmentosa 12 is CRB1 (Crumbs Cell Polarity Complex Component 1). The drugs Bisacodyl and Laxatives have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, 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.

Description from OMIM: 600105

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
Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.4
2 leber congenital amaurosis 4 10.4
3 retinitis 10.4
4 leber congenital amaurosis 8 10.1
5 macular degeneration, age-related, 1 9.6 CRB1 OPTC

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:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
retinitis pigmentosa
attenuation of retinal arterioles
night blindness (before age 3 years)
concentric visual field loss
more

Clinical features from OMIM:

600105

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 12 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Lamellipodia cells GR00165-A 8.8 POLR1C RP9 RPA3

Drugs & Therapeutics for Retinitis Pigmentosa 12

Drugs for Retinitis Pigmentosa 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bisacodyl Approved Phase 4 603-50-9
2 Laxatives Phase 4
3 Cathartics Phase 4
4 Picosulfate sodium Phase 4
5 Gastrointestinal Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Colonoscopy Preparation Optimization for INpatients- COIN Study Unknown status NCT01627171 Phase 4 Bisacodyl 10mg;Polyethelene Glycol;Picosulfate sodium

Search 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 30 CRB1

Anatomical Context for Retinitis Pigmentosa 12

MalaCards organs/tissues related to Retinitis Pigmentosa 12:

42
Bone, Eye

Publications for Retinitis Pigmentosa 12

Articles related to Retinitis Pigmentosa 12:

(show all 18)
# Title Authors Year
1
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping. ( 19140180 )
2009
2
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. ( 16543197 )
2006
3
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. ( 15024725 )
2004
4
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. ( 12567265 )
2002
5
Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis. ( 11850625 )
2002
6
Mutations in the CRB1 gene cause Leber congenital amaurosis. ( 11231775 )
2001
7
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. ( 11389483 )
2001
8
Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene RGS16 (RGS-r) ( 10905894 )
2000
9
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). ( 10508521 )
1999
10
Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes. ( 10343093 )
1999
11
Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). ( 8646891 )
1996
12
Biomaterial-induced dysfunction in the capacity of rabbit alveolar macrophages to kill Staphylococcus epidermidis RP12. ( 8557719 )
1995
13
Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. ( 8001962 )
1994
14
Inhibition of Staphylococcus adherence to biomaterials by extracellular slime of S. epidermidis RP12. ( 7829558 )
1994
15
Site-specific adhesion of Staphylococcus epidermidis (RP12) in Ti-Al-V metal systems. ( 7948583 )
1994
16
Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene. ( 8069649 )
1993
17
Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa. ( 1427914 )
1992
18
DNA sequence of the ribosomal protein genes rp12 and rps19 from a plant-pathogenic mycoplasma-like organism. ( 1769558 )
1991

Variations for Retinitis Pigmentosa 12

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

76 (show all 38)
# 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.Asn894Ser VAR_022966 rs62636290
19 CRB1 p.Asn986Ile VAR_022970
20 CRB1 p.Ile1100Thr VAR_022973 rs62635659
21 CRB1 p.Gly1103Arg VAR_022974 rs62636275
22 CRB1 p.Leu1107Arg VAR_022976 rs62636276
23 CRB1 p.Ala1354Thr VAR_022982 rs200469148
24 CRB1 p.Arg1383His VAR_022983 rs200573274
25 CRB1 p.Cys27Phe VAR_064180 rs146094638
26 CRB1 p.Cys1165Trp VAR_064181
27 CRB1 p.Cys45Trp VAR_067125 rs145141811
28 CRB1 p.Cys157Ser VAR_067126
29 CRB1 p.Asn312Lys VAR_067130
30 CRB1 p.Trp675Cys VAR_067139
31 CRB1 p.Glu710Val VAR_067140 rs145282040
32 CRB1 p.Ser740Phe VAR_067141
33 CRB1 p.Leu1012Ser VAR_067149
34 CRB1 p.Ser1025Asn VAR_067150
35 CRB1 p.Thr1099Lys VAR_067151
36 CRB1 p.Cys1174Gly VAR_067153 rs917768074
37 CRB1 p.Pro1305Leu VAR_067156 rs139191086
38 CRB1 p.Lys534Asn VAR_068363

ClinVar genetic disease variations for Retinitis Pigmentosa 12:

6 (show all 45)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRB1 CRB1, ALU INS, NT2320 insertion Pathogenic
2 CRB1 NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr) single nucleotide variant Pathogenic rs62635656 GRCh37 Chromosome 1, 197404115: 197404115
3 CRB1 NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr) single nucleotide variant Pathogenic rs62635656 GRCh38 Chromosome 1, 197434985: 197434985
4 CRB1 NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter) single nucleotide variant Pathogenic rs62635655 GRCh37 Chromosome 1, 197403976: 197403976
5 CRB1 NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter) single nucleotide variant Pathogenic rs62635655 GRCh38 Chromosome 1, 197434846: 197434846
6 CRB1 NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys) single nucleotide variant Pathogenic rs62635654 GRCh37 Chromosome 1, 197396745: 197396745
7 CRB1 NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys) single nucleotide variant Pathogenic rs62635654 GRCh38 Chromosome 1, 197427615: 197427615
8 CRB1 NM_201253.2(CRB1): c.2234C> T (p.Thr745Met) single nucleotide variant Pathogenic rs28939720 GRCh37 Chromosome 1, 197396689: 197396689
9 CRB1 NM_201253.2(CRB1): c.2234C> T (p.Thr745Met) single nucleotide variant Pathogenic rs28939720 GRCh38 Chromosome 1, 197427559: 197427559
10 CRB1 NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter) single nucleotide variant Pathogenic rs137853137 GRCh37 Chromosome 1, 197396856: 197396856
11 CRB1 NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter) single nucleotide variant Pathogenic rs137853137 GRCh38 Chromosome 1, 197427726: 197427726
12 CRB1 NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg) single nucleotide variant Pathogenic rs62636291 GRCh37 Chromosome 1, 197404534: 197404534
13 CRB1 NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg) single nucleotide variant Pathogenic rs62636291 GRCh38 Chromosome 1, 197435404: 197435404
14 CRB1 NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg) single nucleotide variant Pathogenic rs62636275 GRCh37 Chromosome 1, 197404300: 197404300
15 CRB1 NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg) single nucleotide variant Pathogenic rs62636275 GRCh38 Chromosome 1, 197435170: 197435170
16 CRB1 NM_201253.2(CRB1): c.4118_4127del (p.Ala1374Glufs) deletion Pathogenic rs281865175 GRCh37 Chromosome 1, 197446909: 197446918
17 CRB1 NM_201253.2(CRB1): c.4118_4127del (p.Ala1374Glufs) deletion Pathogenic rs281865175 GRCh38 Chromosome 1, 197477779: 197477788
18 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
19 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh38 Chromosome 1, 197434706: 197434706
20 CRB1 NM_201253.2(CRB1): c.2306G> A (p.Arg769His) single nucleotide variant Benign/Likely benign rs62636287 GRCh37 Chromosome 1, 197396761: 197396761
21 CRB1 NM_201253.2(CRB1): c.2306G> A (p.Arg769His) single nucleotide variant Benign/Likely benign rs62636287 GRCh38 Chromosome 1, 197427631: 197427631
22 CRB1 NM_201253.2(CRB1): c.2555T> C (p.Ile852Thr) single nucleotide variant Pathogenic rs62636271 GRCh37 Chromosome 1, 197397010: 197397010
23 CRB1 NM_201253.2(CRB1): c.2555T> C (p.Ile852Thr) single nucleotide variant Pathogenic rs62636271 GRCh38 Chromosome 1, 197427880: 197427880
24 CRB1 NM_201253.2(CRB1): c.2681A> G (p.Asn894Ser) single nucleotide variant Uncertain significance rs62636290 GRCh37 Chromosome 1, 197398583: 197398583
25 CRB1 NM_201253.2(CRB1): c.2681A> G (p.Asn894Ser) single nucleotide variant Uncertain significance rs62636290 GRCh38 Chromosome 1, 197429453: 197429453
26 CRB1 NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter) single nucleotide variant Pathogenic rs62636273 GRCh37 Chromosome 1, 197398590: 197398590
27 CRB1 NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter) single nucleotide variant Pathogenic rs62636273 GRCh38 Chromosome 1, 197429460: 197429460
28 CRB1 NM_201253.2(CRB1): c.866C> T (p.Thr289Met) single nucleotide variant Likely benign rs62636263 GRCh37 Chromosome 1, 197316487: 197316487
29 CRB1 NM_201253.2(CRB1): c.866C> T (p.Thr289Met) single nucleotide variant Likely benign rs62636263 GRCh38 Chromosome 1, 197347357: 197347357
30 CRB1 NM_201253.2(CRB1): c.99G> T (p.Arg33Ser) single nucleotide variant Benign/Likely benign rs59691602 GRCh37 Chromosome 1, 197297580: 197297580
31 CRB1 NM_201253.2(CRB1): c.99G> T (p.Arg33Ser) single nucleotide variant Benign/Likely benign rs59691602 GRCh38 Chromosome 1, 197328450: 197328450
32 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh37 Chromosome 1, 197404376: 197404376
33 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh38 Chromosome 1, 197435246: 197435246
34 CRB1 NM_201253.2(CRB1): c.2227G> C (p.Val743Leu) single nucleotide variant Likely pathogenic rs863224862 GRCh37 Chromosome 1, 197396682: 197396682
35 CRB1 NM_201253.2(CRB1): c.2227G> C (p.Val743Leu) single nucleotide variant Likely pathogenic rs863224862 GRCh38 Chromosome 1, 197427552: 197427552
36 CRB1 NM_201253.2(CRB1): c.2677-8C> T single nucleotide variant Benign/Likely benign rs73071678 GRCh37 Chromosome 1, 197398571: 197398571
37 CRB1 NM_201253.2(CRB1): c.2677-8C> T single nucleotide variant Benign/Likely benign rs73071678 GRCh38 Chromosome 1, 197429441: 197429441
38 CRB1 NM_201253.2(CRB1): c.1410G> A (p.Leu470=) single nucleotide variant Benign rs3902057 GRCh37 Chromosome 1, 197390368: 197390368
39 CRB1 NM_201253.2(CRB1): c.1410G> A (p.Leu470=) single nucleotide variant Benign rs3902057 GRCh38 Chromosome 1, 197421238: 197421238
40 CRB1 NM_201253.2(CRB1): c.2380C> A (p.His794Asn) single nucleotide variant Uncertain significance rs1294237377 GRCh37 Chromosome 1, 197396835: 197396835
41 CRB1 NM_201253.2(CRB1): c.2380C> A (p.His794Asn) single nucleotide variant Uncertain significance rs1294237377 GRCh38 Chromosome 1, 197427705: 197427705
42 CRB1 NM_201253.2(CRB1): c.2405C> T (p.Pro802Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 197427730: 197427730
43 CRB1 NM_201253.2(CRB1): c.2405C> T (p.Pro802Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 197396860: 197396860
44 CRB1 NM_201253.2(CRB1): c.2548G> A (p.Gly850Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 197397003: 197397003
45 CRB1 NM_201253.2(CRB1): c.2548G> A (p.Gly850Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 197427873: 197427873

Expression for Retinitis Pigmentosa 12

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

Pathways for Retinitis Pigmentosa 12

GO Terms for Retinitis Pigmentosa 12

Sources for Retinitis Pigmentosa 12

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