MCID: RTN042
MIFTS: 33

Retinitis Pigmentosa 12

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 12

MalaCards integrated aliases for Retinitis Pigmentosa 12:

Name: Retinitis Pigmentosa 12 53 12 49 71 28 14 69
Rp12 53 12 71
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium 53 71
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium 53 71
Retinitis Pigmentosa-12, Autosomal Recessive 53 13
Rp with or Without Pprpe 53 71
Rp 12 49

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
childhood onset


HPO:

31
retinitis pigmentosa 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 600105
Disease Ontology 12 DOID:0110358
ICD10 32 H35.5
MedGen 39 C1838647
MeSH 41 D012174
SNOMED-CT via HPO 65 258211005 28835009
UMLS 69 C1838647

Summaries for Retinitis Pigmentosa 12

UniProtKB/Swiss-Prot : 71 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, and has symptoms including rod-cone dystrophy An important gene associated with Retinitis Pigmentosa 12 is CRB1 (Crumbs 1, Cell Polarity Complex Component). The drugs Bisacodyl and Cathartics have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotype is Lamellipodia cells.

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 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 10.1
2 leber congenital amaurosis 4 10.1
3 retinitis 10.1
4 macular degeneration, age-related, 1 9.7 CRB1 OPTC

Symptoms & Phenotypes for Retinitis Pigmentosa 12

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
retinitis pigmentosa
night blindness (before age 3 years)
concentric visual field loss
nystagmus
attenuation of retinal arterioles
more

Clinical features from OMIM:

600105

Human phenotypes related to Retinitis Pigmentosa 12:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510

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

25
# 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 Cathartics Phase 4
3 Gastrointestinal Agents Phase 4
4 Laxatives Phase 4
5 Picosulfate sodium 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 28 CRB1

Anatomical Context for Retinitis Pigmentosa 12

MalaCards organs/tissues related to Retinitis Pigmentosa 12:

38
Bone, Eye

Publications for Retinitis Pigmentosa 12

Articles related to Retinitis Pigmentosa 12:

# Title Authors Year
1
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). ( 10508521 )
1999
2
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
3
Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). ( 8646891 )
1996
4
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
5
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:

71 (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
12 CRB1 p.Cys587Tyr VAR_022952
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
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
38 CRB1 p.Lys534Asn VAR_068363

ClinVar genetic disease variations for Retinitis Pigmentosa 12:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
2 CRB1 NM_201253.2(CRB1): c.2555T> C (p.Ile852Thr) single nucleotide variant Pathogenic rs62636271 GRCh37 Chromosome 1, 197397010: 197397010
3 CRB1 NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter) single nucleotide variant Pathogenic rs62636273 GRCh37 Chromosome 1, 197398590: 197398590
4 CRB1 NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter) single nucleotide variant Pathogenic rs114342808 GRCh37 Chromosome 1, 197390534: 197390534
5 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh37 Chromosome 1, 197404376: 197404376
6 CRB1 CRB1, ALU INS, NT2320 insertion Pathogenic
7 CRB1 NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr) single nucleotide variant Pathogenic rs62635656 GRCh37 Chromosome 1, 197404115: 197404115
8 CRB1 NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter) single nucleotide variant Pathogenic rs62635655 GRCh37 Chromosome 1, 197403976: 197403976
9 CRB1 NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys) single nucleotide variant Pathogenic rs62635654 GRCh37 Chromosome 1, 197396745: 197396745
10 CRB1 NM_201253.2(CRB1): c.2234C> T (p.Thr745Met) single nucleotide variant Pathogenic rs28939720 GRCh37 Chromosome 1, 197396689: 197396689
11 CRB1 NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter) single nucleotide variant Pathogenic rs137853137 GRCh37 Chromosome 1, 197396856: 197396856
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.3307G> A (p.Gly1103Arg) single nucleotide variant Pathogenic rs62636275 GRCh37 Chromosome 1, 197404300: 197404300
14 CRB1 NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (p.Ala1374Glufs) deletion Pathogenic rs281865175 GRCh37 Chromosome 1, 197446909: 197446918
15 CRB1 NM_201253.2(CRB1): c.2227G> C (p.Val743Leu) single nucleotide variant Likely pathogenic rs863224862 GRCh37 Chromosome 1, 197396682: 197396682
16 CRB1 NM_201253.2(CRB1): c.799_800delGCinsA (p.Ala267Thrfs) indel Pathogenic rs886043587 GRCh37 Chromosome 1, 197313557: 197313558

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

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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