MCID: CRB083
MIFTS: 12

Crb1-Related Retinitis Pigmentosa malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Crb1-Related Retinitis Pigmentosa

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Aliases & Descriptions for Crb1-Related Retinitis Pigmentosa:

Name: Crb1-Related Retinitis Pigmentosa 24
Retinitis Pigmentosa 12 68
 
Rp12 24

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 Retinitis Pigmentosa 75
Late-Adult Onset Retinitis Pigmentosa Bbs2-Related Retinitis Pigmentosa
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 76

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 recessive11.5
2retinitis pigmentosa10.1
3retinitis10.1

Symptoms & Phenotypes 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 Pigmentosa24 CRB1

Anatomical Context for Crb1-Related Retinitis Pigmentosa

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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)SNVPathogenicrs114342808GRCh37Chr 1, 197390534: 197390534
2CRB1NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs)deletionPathogenicrs794727980GRCh37Chr 1, 197404376: 197404376
3CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)SNVPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
4CRB1NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr)SNVPathogenicrs62635656GRCh37Chr 1, 197404115: 197404115
5CRB1NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter)SNVPathogenicrs62635655GRCh37Chr 1, 197403976: 197403976
6CRB1NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys)SNVPathogenicrs62635654GRCh37Chr 1, 197396745: 197396745
7CRB1NM_201253.2(CRB1): c.2234C> T (p.Thr745Met)SNVPathogenicrs28939720GRCh37Chr 1, 197396689: 197396689
8CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)SNVPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
9CRB1NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg)SNVPathogenicrs62636291GRCh37Chr 1, 197404534: 197404534
10CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)SNVPathogenicrs62636275GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet