MCID: RTN096
MIFTS: 28

Retinitis Pigmentosa-12, Autosomal Recessive malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Retinitis Pigmentosa-12, Autosomal Recessive

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

Name: Retinitis Pigmentosa-12, Autosomal Recessive 49 11
Retinitis Pigmentosa 12 45 24 65 67
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium 67
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium 67
 
Rp with or Without Pprpe 67
Rp 12 45
Rp12 67


Classifications:



External Ids:

OMIM49 600105
MedGen34 C1838647
MeSH36 D012174

Summaries for Retinitis Pigmentosa-12, Autosomal Recessive

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UniProtKB/Swiss-Prot:67 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, Autosomal Recessive, also known as retinitis pigmentosa 12, is related to retinitis pigmentosa and retinitis, and has symptoms including autosomal recessive inheritanceand rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa-12, Autosomal Recessive is CRB1 (Crumbs Family Member 1, Photoreceptor Morphogenesis Associated). Affiliated tissues include eye.

Description from OMIM:49 600105

Related Diseases for Retinitis Pigmentosa-12, Autosomal Recessive

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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 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
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
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 Retinitis Pigmentosa-12, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa10.3
2retinitis10.3
3crb1-related retinitis pigmentosa10.1

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 rod-cone dystrophy HP:0000510

Drugs & Therapeutics for Retinitis Pigmentosa-12, Autosomal Recessive

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Interventional clinical trials:

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

Genetic Tests for Retinitis Pigmentosa-12, Autosomal Recessive

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Genetic tests related to Retinitis Pigmentosa-12, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa 1224

Anatomical Context for Retinitis Pigmentosa-12, Autosomal Recessive

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MalaCards organs/tissues related to Retinitis Pigmentosa-12, Autosomal Recessive:

33
Eye

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:

67 (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:

5 (show all 13)
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.2227G> C (p.Val743Leu)single nucleotide variantLikely pathogenicGRCh37Chr 1, 197396682: 197396682
4CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)single nucleotide variantPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
5CRB1CRB1, ALU INS, NT2320insertionPathogenic
6CRB1NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr)single nucleotide variantPathogenicrs62635656GRCh37Chr 1, 197404115: 197404115
7CRB1NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter)single nucleotide variantPathogenicrs62635655GRCh37Chr 1, 197403976: 197403976
8CRB1NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys)single nucleotide variantPathogenicrs62635654GRCh37Chr 1, 197396745: 197396745
9CRB1NM_201253.2(CRB1): c.2234C> T (p.Thr745Met)single nucleotide variantPathogenicrs28939720GRCh37Chr 1, 197396689: 197396689
10CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)single nucleotide variantPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
11CRB1NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg)single nucleotide variantPathogenicrs62636291GRCh37Chr 1, 197404534: 197404534
12CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)single nucleotide variantPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300
13CRB1NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (p.Ala1374Glufs)deletionPathogenicrs281865175GRCh37Chr 1, 197446909: 197446918

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

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

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Sources for Retinitis Pigmentosa-12, Autosomal Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet