MCID: CRB083
MIFTS: 12

Crb1-Related Retinitis Pigmentosa malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Crb1-Related Retinitis Pigmentosa

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Aliases & Descriptions for Crb1-Related Retinitis Pigmentosa:

Name: Crb1-Related Retinitis Pigmentosa 23
Retinitis Pigmentosa 12 66
 
Rp12 23

Classifications:



Summaries for Crb1-Related Retinitis Pigmentosa

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MalaCards based summary: Crb1-Related Retinitis Pigmentosa, also known as retinitis pigmentosa 12, is related to retinitis pigmentosa-12, autosomal recessive and retinitis pigmentosa. An important gene associated with Crb1-Related Retinitis Pigmentosa is CRB1 (Crumbs 1, Cell Polarity Complex Component).

Related Diseases for Crb1-Related Retinitis Pigmentosa

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Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 59 Retinitis Pigmentosa 20
Retinitis Pigmentosa 19 Retinitis Pigmentosa 32
Retinitis Pigmentosa 18 Retinitis Pigmentosa 35
Retinitis Pigmentosa-12, Autosomal Recessive Retinitis Pigmentosa 67
Retinitis Pigmentosa 39 Retinitis Pigmentosa 58
Retinitis Pigmentosa 54 Retinitis Pigmentosa 71
Retinitis Pigmentosa 28 Retinitis Pigmentosa 33
Retinitis Pigmentosa 38 Retinitis Pigmentosa 26
Retinitis Pigmentosa 47 Retinitis Pigmentosa 55
Retinitis Pigmentosa 56 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive
Retinitis Pigmentosa 61 Retinitis Pigmentosa 68
Retinitis Pigmentosa-40 Retinitis Pigmentosa 41
Retinitis Pigmentosa 49 Retinitis Pigmentosa 29
Retinitis Pigmentosa 43 Retinitis Pigmentosa 62
Retinitis Pigmentosa 14 Retinitis Pigmentosa 48
Retinitis Pigmentosa 25 Retinitis Pigmentosa 63
Retinitis Pigmentosa 42 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa 73
Retinitis Pigmentosa 1 Retinitis Pigmentosa 31
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 44 Retinitis Pigmentosa 72
Retinitis Pigmentosa-50 Retinitis Pigmentosa 27
Retinitis Pigmentosa 51 Retinitis Pigmentosa 37
Retinitis Pigmentosa 22 Retinitis Pigmentosa 45
Retinitis Pigmentosa 74 Retinitis Pigmentosa 13
Retinitis Pigmentosa 36 Retinitis Pigmentosa 17
Retinitis Pigmentosa 30 Retinitis Pigmentosa 57
Retinitis Pigmentosa 11 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 23 Retinitis Pigmentosa 3
Retinitis Pigmentosa 2 Retinitis Pigmentosa 24
Retinitis Pigmentosa 34 Abca4-Related Retinitis Pigmentosa
Aipl1-Related Retinitis Pigmentosa Arl2bp-Related Retinitis Pigmentosa
Arl6-Related Retinitis Pigmentosa Best1-Related Retinitis Pigmentosa
C2orf71-Related Retinitis Pigmentosa C8orf37-Related Retinitis Pigmentosa
Ca4-Related Retinitis Pigmentosa Cerkl-Related Retinitis Pigmentosa
Clrn1-Related Retinitis Pigmentosa Cnga1-Related Retinitis Pigmentosa
Cngb1-Related Retinitis Pigmentosa crb1-related retinitis pigmentosa
Crx-Related Retinitis Pigmentosa Dhdds-Related Retinitis Pigmentosa
Eys-Related Retinitis Pigmentosa Fam161a-Related Retinitis Pigmentosa
Fscn2-Related Retinitis Pigmentosa Guca1b-Related Retinitis Pigmentosa
Idh3b-Related Retinitis Pigmentosa Impdh1-Related Retinitis Pigmentosa
Impg2-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Ofd1-Related Retinitis Pigmentosa
Pde6a-Related Retinitis Pigmentosa Pde6b-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prcd-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa Prpf3-Related Retinitis Pigmentosa
Prpf31-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Prpf8-Related Retinitis Pigmentosa Prph2-Related Retinitis Pigmentosa
Rbp3-Related Retinitis Pigmentosa Rdh12-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rom1-Related Retinitis Pigmentosa Rp1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Rp9-Related Retinitis Pigmentosa
Rpe65-Related Retinitis Pigmentosa Rpgr-Related Retinitis Pigmentosa
Sag-Related Retinitis Pigmentosa Sema4a-Related Retinitis Pigmentosa
Slc7a14-Related Retinitis Pigmentosa Snrnp200-Related Retinitis Pigmentosa
Spata7-Related Retinitis Pigmentosa Topors-Related Retinitis Pigmentosa
Ttc8-Related Retinitis Pigmentosa Tulp1-Related Retinitis Pigmentosa
Ush2a-Related Retinitis Pigmentosa Znf513-Related Retinitis Pigmentosa
Retinitis Pigmentosa Autosomal Recessive

Diseases related to Crb1-Related Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa-12, autosomal recessive11.3
2retinitis pigmentosa10.2
3retinitis10.2

Symptoms for Crb1-Related Retinitis Pigmentosa

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Drugs & Therapeutics for Crb1-Related Retinitis Pigmentosa

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Crb1-Related Retinitis Pigmentosa

Genetic Tests for Crb1-Related Retinitis Pigmentosa

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Genetic tests related to Crb1-Related Retinitis Pigmentosa:

id Genetic test Affiliating Genes
1 Crb1-Related Retinitis Pigmentosa23 CRB1

Anatomical Context for Crb1-Related Retinitis Pigmentosa

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Animal Models for Crb1-Related Retinitis Pigmentosa or affiliated genes

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Publications for Crb1-Related Retinitis Pigmentosa

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Variations for Crb1-Related Retinitis Pigmentosa

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Clinvar genetic disease variations for Crb1-Related Retinitis Pigmentosa:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1CRB1NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter)single nucleotide variantPathogenicrs114342808GRCh37Chr 1, 197390534: 197390534
2CRB1NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs)deletionPathogenicrs794727980GRCh37Chr 1, 197404376: 197404376
3CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)single nucleotide variantPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
4CRB1NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr)single nucleotide variantPathogenicrs62635656GRCh37Chr 1, 197404115: 197404115
5CRB1NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs62635655GRCh37Chr 1, 197403976: 197403976
6CRB1NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys)single nucleotide variantPathogenicrs62635654GRCh37Chr 1, 197396745: 197396745
7CRB1NM_201253.2(CRB1): c.2234C> T (p.Thr745Met)single nucleotide variantPathogenicrs28939720GRCh37Chr 1, 197396689: 197396689
8CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)single nucleotide variantPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
9CRB1NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg)single nucleotide variantPathogenicrs62636291GRCh37Chr 1, 197404534: 197404534
10CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)single nucleotide variantPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300
11CRB1NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (p.Ala1374Glufs)deletionPathogenicrs281865175GRCh37Chr 1, 197446909: 197446918

Expression for genes affiliated with Crb1-Related Retinitis Pigmentosa

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Search GEO for disease gene expression data for Crb1-Related Retinitis Pigmentosa.

Pathways for genes affiliated with Crb1-Related Retinitis Pigmentosa

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GO Terms for genes affiliated with Crb1-Related Retinitis Pigmentosa

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Sources for Crb1-Related Retinitis Pigmentosa

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet