MCID: RTN042
MIFTS: 29

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 57 12 53 75 29 6 15 73
Rp12 57 12 75
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium 57 75
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium 57 75
Retinitis Pigmentosa-12, Autosomal Recessive 57 13
Rp with or Without Pprpe 57 75
Rp 12 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
childhood onset


HPO:

32
retinitis pigmentosa 12:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 600105
Disease Ontology 12 DOID:0110358
ICD10 33 H35.5
MedGen 42 C1838647
MeSH 44 D012174
SNOMED-CT via HPO 69 258211005 28835009
UMLS 73 C1838647

Summaries for Retinitis Pigmentosa 12

UniProtKB/Swiss-Prot : 75 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 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 phenotypes are rod-cone dystrophy and 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 10.2
2 leber congenital amaurosis 4 10.2
3 retinitis 10.2
4 macular degeneration, age-related, 1 9.5 CRB1 OPTC

Symptoms & Phenotypes for Retinitis Pigmentosa 12

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510

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

26
# 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 29 CRB1

Anatomical Context for Retinitis Pigmentosa 12

MalaCards organs/tissues related to Retinitis Pigmentosa 12:

41
Bone, Eye

Publications for Retinitis Pigmentosa 12

Variations for Retinitis Pigmentosa 12

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

75 (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 37)
# 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.4121_4130delCAACTCAGGG (p.Ala1374Glufs) deletion Pathogenic rs281865175 GRCh37 Chromosome 1, 197446909: 197446918
17 CRB1 NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (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.2555T> C (p.Ile852Thr) single nucleotide variant Pathogenic rs62636271 GRCh37 Chromosome 1, 197397010: 197397010
21 CRB1 NM_201253.2(CRB1): c.2555T> C (p.Ile852Thr) single nucleotide variant Pathogenic rs62636271 GRCh38 Chromosome 1, 197427880: 197427880
22 CRB1 NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter) single nucleotide variant Pathogenic rs62636273 GRCh37 Chromosome 1, 197398590: 197398590
23 CRB1 NM_201253.2(CRB1): c.2688T> A (p.Cys896Ter) single nucleotide variant Pathogenic rs62636273 GRCh38 Chromosome 1, 197429460: 197429460
24 CRB1 NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter) single nucleotide variant Pathogenic rs114342808 GRCh37 Chromosome 1, 197390534: 197390534
25 CRB1 NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter) single nucleotide variant Pathogenic rs114342808 GRCh38 Chromosome 1, 197421404: 197421404
26 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh37 Chromosome 1, 197404376: 197404376
27 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh38 Chromosome 1, 197435246: 197435246
28 CRB1 NM_201253.2(CRB1): c.2227G> C (p.Val743Leu) single nucleotide variant Likely pathogenic rs863224862 GRCh37 Chromosome 1, 197396682: 197396682
29 CRB1 NM_201253.2(CRB1): c.2227G> C (p.Val743Leu) single nucleotide variant Likely pathogenic rs863224862 GRCh38 Chromosome 1, 197427552: 197427552
30 CRB1 NM_201253.2(CRB1): c.799_800delGCinsA (p.Ala267Thrfs) indel Pathogenic rs886043587 GRCh37 Chromosome 1, 197313557: 197313558
31 CRB1 NM_201253.2(CRB1): c.799_800delGCinsA (p.Ala267Thrfs) indel Pathogenic rs886043587 GRCh38 Chromosome 1, 197344427: 197344428
32 CRB1 NM_201253.2(CRB1): c.2677-8C> T single nucleotide variant Benign/Likely benign rs73071678 GRCh37 Chromosome 1, 197398571: 197398571
33 CRB1 NM_201253.2(CRB1): c.2677-8C> T single nucleotide variant Benign/Likely benign rs73071678 GRCh38 Chromosome 1, 197429441: 197429441
34 CRB1 NM_201253.2(CRB1): c.1410G> A (p.Leu470=) single nucleotide variant Benign rs3902057 GRCh37 Chromosome 1, 197390368: 197390368
35 CRB1 NM_201253.2(CRB1): c.1410G> A (p.Leu470=) single nucleotide variant Benign rs3902057 GRCh38 Chromosome 1, 197421238: 197421238
36 CRB1 NM_201253.2(CRB1): c.2380C> A (p.His794Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 197427705: 197427705
37 CRB1 NM_201253.2(CRB1): c.2380C> A (p.His794Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 197396835: 197396835

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
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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