MCID: RTN096
MIFTS: 11

Retinitis Pigmentosa-12, Autosomal Recessive malady

Genetic diseases (common) category
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Summaries for Retinitis Pigmentosa-12, Autosomal Recessive

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MalaCards based summary: Retinitis Pigmentosa-12, Autosomal Recessive and has symptoms including 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 (common)


Related Diseases for Retinitis Pigmentosa-12, Autosomal Recessive

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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:

64 (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:

6
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

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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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  • Antibodies
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Sources for Retinitis Pigmentosa-12, Autosomal Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet