MCID: RTN096
MIFTS: 14

Retinitis Pigmentosa-12, Autosomal Recessive malady

Genetic diseases, Rare diseases, Eye diseases categories

Summaries for Retinitis Pigmentosa-12, Autosomal Recessive

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MalaCards based summary: Retinitis Pigmentosa-12, Autosomal Recessive and has symptoms including autosomal recessive inheritanceand retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa-12, Autosomal Recessive is CRB1 (crumbs family member 1, photoreceptor morphogenesis associated).

Description from OMIM:46 600105

Aliases & Classifications for Retinitis Pigmentosa-12, Autosomal Recessive

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Retinitis Pigmentosa-12, Autosomal Recessive, Aliases & Descriptions:

Name: Retinitis Pigmentosa-12, Autosomal Recessive 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases


Related Diseases for Retinitis Pigmentosa-12, Autosomal Recessive

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Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 11 Retinitis Pigmentosa 12
Retinitis Pigmentosa 13 Retinitis Pigmentosa 14
Retinitis Pigmentosa 15 Retinitis Pigmentosa 17
Retinitis Pigmentosa 18 Retinitis Pigmentosa 19
Retinitis Pigmentosa 2, X Linked Retinitis Pigmentosa 20
Retinitis Pigmentosa 22 Retinitis Pigmentosa 23
Retinitis Pigmentosa 24 Retinitis Pigmentosa 25
Retinitis Pigmentosa 26 Retinitis Pigmentosa 28
Retinitis Pigmentosa 29 Retinitis Pigmentosa 3
Retinitis Pigmentosa 30 Retinitis Pigmentosa 31
Retinitis Pigmentosa 32 Retinitis Pigmentosa 33
Retinitis Pigmentosa 34 Retinitis Pigmentosa 35
Retinitis Pigmentosa 36 Retinitis Pigmentosa 4
Retinitis Pigmentosa 41 Retinitis Pigmentosa 6
Retinitis Pigmentosa 7 Retinitis Pigmentosa 9
Prph2-Related Retinitis Pigmentosa Rho-Related Retinitis Pigmentosa
Rp1-Related Retinitis Pigmentosa Prpf8-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa Crb1-Related Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Rpe65-Related Retinitis Pigmentosa
Rpgr-Related Retinitis Pigmentosa Impdh1-Related Retinitis Pigmentosa
Rp2-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Cnga1-Related Retinitis Pigmentosa Cngb1-Related Retinitis Pigmentosa
Rgr-Related Retinitis Pigmentosa Pde6a-Related Retinitis Pigmentosa
Mertk-Related Retinitis Pigmentosa Ush2a-Related Retinitis Pigmentosa
Pde6b-Related Retinitis Pigmentosa Nr2e3-Related Retinitis Pigmentosa
Crx-Related Retinitis Pigmentosa Tulp1-Related Retinitis Pigmentosa
Ca4-Related Retinitis Pigmentosa Fscn2-Related Retinitis Pigmentosa
Nrl-Related Retinitis Pigmentosa Rom1-Related Retinitis Pigmentosa
Sema4a-Related Retinitis Pigmentosa Topors-Related Retinitis Pigmentosa
Rp9-Related Retinitis Pigmentosa Aipl1-Related Retinitis Pigmentosa
Guca1b-Related Retinitis Pigmentosa Eys-Related Retinitis Pigmentosa
Snrnp200-Related Retinitis Pigmentosa Klhl7-Related Retinitis Pigmentosa
Best1-Related Retinitis Pigmentosa Cerkl-Related Retinitis Pigmentosa
Prom1-Related Retinitis Pigmentosa C2orf71-Related Retinitis Pigmentosa
Ttc8-Related Retinitis Pigmentosa Sag-Related Retinitis Pigmentosa
Idh3b-Related Retinitis Pigmentosa Clrn1-Related Retinitis Pigmentosa
Fam161a-Related Retinitis Pigmentosa Impg2-Related Retinitis Pigmentosa
Lrat-Related Retinitis Pigmentosa Spata7-Related Retinitis Pigmentosa
Znf513-Related Retinitis Pigmentosa Dhdds-Related Retinitis Pigmentosa
Prcd-Related Retinitis Pigmentosa Rbp3-Related Retinitis Pigmentosa
Pde6g-Related Retinitis Pigmentosa Prpf6-Related Retinitis Pigmentosa
Rdh12-Related Retinitis Pigmentosa Mak-Related Retinitis Pigmentosa
C8orf37-Related Retinitis Pigmentosa Arl6-Related Retinitis Pigmentosa
retinitis pigmentosa-12, autosomal recessive Retinitis Pigmentosa 67
Retinitis Pigmentosa 39 Retinitis Pigmentosa 58
Retinitis Pigmentosa 54 Retinitis Pigmentosa 38
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 49
Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa 43
Retinitis Pigmentosa 62 Retinitis Pigmentosa 48
Retinitis Pigmentosa 63 Retinitis Pigmentosa 42
Retinitis Pigmentosa 10 Retinitis Pigmentosa 64
Retinitis Pigmentosa 70 Retinitis Pigmentosa 66
Retinitis Pigmentosa 44 Retinitis Pigmentosa 65
Retinitis Pigmentosa-50 Retinitis Pigmentosa 27
Retinitis Pigmentosa, Juvenile, Autosomal Recessive Retinitis Pigmentosa 51
Retinitis Pigmentosa 37 Retinitis Pigmentosa 45
Retinitis Pigmentosa 57 Retinitis Pigmentosa 46
Retinitis Pigmentosa 69 Retinitis Pigmentosa 60
Retinitis Pigmentosa 2 Retinitis Pigmentosa Autosomal Recessive

Symptoms for Retinitis Pigmentosa-12, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

600105

Clinical features from OMIM:

600105

HPO human phenotypes related to Retinitis Pigmentosa-12, Autosomal Recessive:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 retinitis pigmentosa HP:0000510

Drugs & Therapeutics for Retinitis Pigmentosa-12, Autosomal Recessive

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Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa-12, Autosomal Recessive

Search NIH Clinical Center for Retinitis Pigmentosa-12, Autosomal Recessive

Genetic Tests for Retinitis Pigmentosa-12, Autosomal Recessive

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Anatomical Context for Retinitis Pigmentosa-12, Autosomal Recessive

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Animal Models for Retinitis Pigmentosa-12, Autosomal Recessive or affiliated genes

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Publications for Retinitis Pigmentosa-12, Autosomal Recessive

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Variations for Retinitis Pigmentosa-12, Autosomal Recessive

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

63 (show all 36)
id Symbol AA change Variation ID SNP ID
1CRB1p.Ala161ValVAR_011641
2CRB1p.Cys250TrpVAR_011642
3CRB1p.Thr745MetVAR_011643rs28939720
4CRB1p.Arg764CysVAR_011644
5CRB1p.Cys948TyrVAR_011645
6CRB1p.Met1041ThrVAR_011646
7CRB1p.Leu1071ProVAR_011647
8CRB1p.Cys1181ArgVAR_011649
9CRB1p.Cys195PheVAR_022943
10CRB1p.Tyr433CysVAR_022947
11CRB1p.Val578GluVAR_022950
12CRB1p.Cys587TyrVAR_022952
13CRB1p.Pro836ThrVAR_022960rs116471343
14CRB1p.Asp837HisVAR_022961
15CRB1p.Gly846ArgVAR_022962
16CRB1p.Gly850SerVAR_022963
17CRB1p.Cys891GlyVAR_022965
18CRB1p.Asn894SerVAR_022966
19CRB1p.Asn986IleVAR_022970
20CRB1p.Ile1100ThrVAR_022973
21CRB1p.Gly1103ArgVAR_022974
22CRB1p.Arg1383HisVAR_022983rs200573274
23CRB1p.Cys27PheVAR_064180
24CRB1p.Cys1165TrpVAR_064181
25CRB1p.Cys45TrpVAR_067125
26CRB1p.Cys157SerVAR_067126
27CRB1p.Asn312LysVAR_067130
28CRB1p.Trp675CysVAR_067139
29CRB1p.Glu710ValVAR_067140
30CRB1p.Ser740PheVAR_067141
31CRB1p.Leu1012SerVAR_067149
32CRB1p.Ser1025AsnVAR_067150
33CRB1p.Thr1099LysVAR_067151
34CRB1p.Cys1174GlyVAR_067153
35CRB1p.Pro1305LeuVAR_067156
36CRB1p.Lys534AsnVAR_068363

Clinvar genetic disease variations for Retinitis Pigmentosa-12, Autosomal Recessive:

7
id Gene Name Type Significance SNP ID Assembly Location
1CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)single nucleotide variantPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
2CRB1CRB1, ALU INS, NT2320insertionPathogenic
3CRB1NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr)single nucleotide variantPathogenicrs62635656GRCh37Chr 1, 197404115: 197404115
4CRB1NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs62635655GRCh37Chr 1, 197403976: 197403976
5CRB1NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys)single nucleotide variantPathogenicrs62635654GRCh37Chr 1, 197396745: 197396745
6CRB1NM_201253.2(CRB1): c.2234C> T (p.Thr745Met)single nucleotide variantPathogenicrs28939720GRCh37Chr 1, 197396689: 197396689
7CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)single nucleotide variantPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
8CRB1NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg)single nucleotide variantPathogenicrs62636291GRCh37Chr 1, 197404534: 197404534
9CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)single nucleotide variantPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300
10CRB1CRB1, 10-BP DEL, NT4121deletionPathogenic

Expression for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

Search GEO for disease gene expression data for Retinitis Pigmentosa-12, Autosomal Recessive.

Pathways for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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Compounds for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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GO Terms for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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Products for genes affiliated with Retinitis Pigmentosa-12, Autosomal Recessive

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Sources for Retinitis Pigmentosa-12, Autosomal Recessive

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet