MCID: RTN096
MIFTS: 24

Retinitis Pigmentosa-12, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Eye diseases

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 52 12
Retinitis Pigmentosa 12 11 48 70 27 68
Rp12 11 70
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium 70
 
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium 70
Rp with or Without Pprpe 70
Rp 12 48

Characteristics:

HPO:

64
retinitis pigmentosa-12, autosomal recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 600105
Disease Ontology11 DOID:0110358
ICD1030 H35.5
MedGen37 C1838647
MeSH39 D012174

Summaries for Retinitis Pigmentosa-12, Autosomal Recessive

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UniProtKB/Swiss-Prot:70 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 crb1-related retinitis pigmentosa, and has symptoms including rod-cone dystrophy An important gene associated with Retinitis Pigmentosa-12, Autosomal Recessive is CRB1 (Crumbs 1, Cell Polarity Complex Component). Affiliated tissues include eye.

Disease Ontology:11 A retinitis pigmentosa that has material basis in mutation in the CRB1 gene on chromosome 1q31.3.

Description from OMIM:52 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 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 Retinitis Pigmentosa-12, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1crb1-related retinitis pigmentosa11.0

Symptoms & Phenotypes for Retinitis Pigmentosa-12, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

600105

Clinical features from OMIM:

600105

Human phenotypes related to Retinitis Pigmentosa-12, Autosomal Recessive:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 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 1227

Anatomical Context for Retinitis Pigmentosa-12, Autosomal Recessive

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

36
Eye

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:

70 (show all 36)
id Symbol AA change Variation ID SNP ID
1CRB1p.Ala161ValVAR_011641rs62635651
2CRB1p.Cys250TrpVAR_011642rs62635652
3CRB1p.Thr745MetVAR_011643rs28939720
4CRB1p.Arg764CysVAR_011644rs62635654
5CRB1p.Cys948TyrVAR_011645rs62645748
6CRB1p.Met1041ThrVAR_011646rs62635656
7CRB1p.Leu1071ProVAR_011647rs62635657
8CRB1p.Cys1181ArgVAR_011649rs62636291
9CRB1p.Cys195PheVAR_022943rs764256655
10CRB1p.Tyr433CysVAR_022947rs62636288
11CRB1p.Val578GluVAR_022950
12CRB1p.Cys587TyrVAR_022952
13CRB1p.Pro836ThrVAR_022960rs116471343
14CRB1p.Asp837HisVAR_022961rs62636289
15CRB1p.Gly846ArgVAR_022962rs539189291
16CRB1p.Gly850SerVAR_022963rs776591659
17CRB1p.Cys891GlyVAR_022965rs62635658
18CRB1p.Asn894SerVAR_022966rs62636290
19CRB1p.Asn986IleVAR_022970
20CRB1p.Ile1100ThrVAR_022973rs62635659
21CRB1p.Gly1103ArgVAR_022974rs62636275
22CRB1p.Arg1383HisVAR_022983rs200573274
23CRB1p.Cys27PheVAR_064180
24CRB1p.Cys1165TrpVAR_064181
25CRB1p.Cys45TrpVAR_067125rs145141811
26CRB1p.Cys157SerVAR_067126
27CRB1p.Asn312LysVAR_067130
28CRB1p.Trp675CysVAR_067139
29CRB1p.Glu710ValVAR_067140rs145282040
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 14)
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.2227G> C (p.Val743Leu)SNVLikely pathogenicrs863224862GRCh37Chr 1, 197396682: 197396682
4CRB1NM_201253.2(CRB1): c.799_800delGCinsA (p.Ala267Thrfs)indelPathogenicrs886043587GRCh37Chr 1, 197313557: 197313558
5CRB1NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr)SNVPathogenicrs62645748GRCh37Chr 1, 197403836: 197403836
6CRB1CRB1, ALU INS, NT2320insertionPathogenicChr na, -1: -1
7CRB1NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr)SNVPathogenicrs62635656GRCh37Chr 1, 197404115: 197404115
8CRB1NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter)SNVPathogenicrs62635655GRCh37Chr 1, 197403976: 197403976
9CRB1NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys)SNVPathogenicrs62635654GRCh37Chr 1, 197396745: 197396745
10CRB1NM_201253.2(CRB1): c.2234C> T (p.Thr745Met)SNVPathogenicrs28939720GRCh37Chr 1, 197396689: 197396689
11CRB1NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter)SNVPathogenicrs137853137GRCh37Chr 1, 197396856: 197396856
12CRB1NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg)SNVPathogenicrs62636291GRCh37Chr 1, 197404534: 197404534
13CRB1NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg)SNVPathogenicrs62636275GRCh37Chr 1, 197404300: 197404300
14CRB1NM_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
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