MCID: RTN096
MIFTS: 30

Retinitis Pigmentosa-12, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa-12, Autosomal Recessive

MalaCards integrated aliases for Retinitis Pigmentosa-12, Autosomal Recessive:

Name: Retinitis Pigmentosa-12, Autosomal Recessive 54 13
Retinitis Pigmentosa 12 12 50 71 29 14 69
Rp12 12 71
Retinitis Pigmentosa with or Without Paraarteriolar Preservation of Retinal Pigment Epithelium 71
Rp with or Without Preserved Paraarteriole Retinal Pigment Epithelium 71
Rp with or Without Pprpe 71
Rp 12 50

Characteristics:

OMIM:

54
Miscellaneous:
childhood onset

Inheritance:
autosomal recessive


HPO:

32
retinitis pigmentosa-12, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 600105
Disease Ontology 12 DOID:0110358
ICD10 33 H35.5
MedGen 40 C1838647
MeSH 42 D012174
SNOMED-CT via HPO 65 258211005 28835009

Summaries for Retinitis Pigmentosa-12, Autosomal Recessive

UniProtKB/Swiss-Prot : 71 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 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 bone and eye, and related phenotype is Lamellipodia cells.

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the CRB1 gene on chromosome 1q31.3.

Description from OMIM: 600105

Related Diseases for Retinitis Pigmentosa-12, Autosomal Recessive

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 59 Retinitis Pigmentosa 76
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 75 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 79 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 77
Retinitis Pigmentosa 78 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
Late-Adult Onset Retinitis Pigmentosa Nonsyndromic Retinitis Pigmentosa
Abca4-Related Retinitis Pigmentosa Agbl5-Related Retinitis Pigmentosa
Aipl1-Related Retinitis Pigmentosa Arl2bp-Related Retinitis Pigmentosa
Arl6-Related Retinitis Pigmentosa Bbs2-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
Kiz-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
Prcd-Related Retinitis Pigmentosa Prom1-Related Retinitis Pigmentosa
Prpf3-Related Retinitis Pigmentosa Prpf31-Related Retinitis Pigmentosa
Prpf4-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

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

id Related Disease Score Top Affiliating Genes
1 crb1-related retinitis pigmentosa 10.8
2 retinitis pigmentosa 10.1
3 retinitis 10.1
4 macular degeneration, age-related, 1 9.6 CRB1 OPTC

Symptoms & Phenotypes for Retinitis Pigmentosa-12, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
bone spicule-type pigment deposits
attenuation of retinal arterioles
nystagmus
concentric visual field loss
night blindness (before age 3 years)
more

Clinical features from OMIM:

600105

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

32
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510

GenomeRNAi Phenotypes related to Retinitis Pigmentosa-12, Autosomal Recessive according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Lamellipodia cells GR00165-A 8.8 POLR1C RP9 RPA3

Drugs & Therapeutics for Retinitis Pigmentosa-12, Autosomal Recessive

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

Genetic Tests for Retinitis Pigmentosa-12, Autosomal Recessive

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

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa 12 29

Anatomical Context for Retinitis Pigmentosa-12, Autosomal Recessive

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

39
Bone, Eye

Publications for Retinitis Pigmentosa-12, Autosomal Recessive

Variations for Retinitis Pigmentosa-12, Autosomal Recessive

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

71 (show all 36)
id Symbol AA change Variation ID SNP ID
1 CRB1 p.Ala161Val VAR_011641 rs62635651
2 CRB1 p.Cys250Trp VAR_011642 rs62635652
3 CRB1 p.Thr745Met VAR_011643 rs28939720
4 CRB1 p.Arg764Cys VAR_011644 rs62635654
5 CRB1 p.Cys948Tyr VAR_011645 rs62645748
6 CRB1 p.Met1041Thr VAR_011646 rs62635656
7 CRB1 p.Leu1071Pro VAR_011647 rs62635657
8 CRB1 p.Cys1181Arg VAR_011649 rs62636291
9 CRB1 p.Cys195Phe VAR_022943 rs764256655
10 CRB1 p.Tyr433Cys VAR_022947 rs62636288
11 CRB1 p.Val578Glu VAR_022950
12 CRB1 p.Cys587Tyr VAR_022952
13 CRB1 p.Pro836Thr VAR_022960 rs116471343
14 CRB1 p.Asp837His VAR_022961 rs62636289
15 CRB1 p.Gly846Arg VAR_022962 rs539189291
16 CRB1 p.Gly850Ser VAR_022963 rs776591659
17 CRB1 p.Cys891Gly VAR_022965 rs62635658
18 CRB1 p.Asn894Ser VAR_022966 rs62636290
19 CRB1 p.Asn986Ile VAR_022970
20 CRB1 p.Ile1100Thr VAR_022973 rs62635659
21 CRB1 p.Gly1103Arg VAR_022974 rs62636275
22 CRB1 p.Arg1383His VAR_022983 rs200573274
23 CRB1 p.Cys27Phe VAR_064180
24 CRB1 p.Cys1165Trp VAR_064181
25 CRB1 p.Cys45Trp VAR_067125 rs145141811
26 CRB1 p.Cys157Ser VAR_067126
27 CRB1 p.Asn312Lys VAR_067130
28 CRB1 p.Trp675Cys VAR_067139
29 CRB1 p.Glu710Val VAR_067140 rs145282040
30 CRB1 p.Ser740Phe VAR_067141
31 CRB1 p.Leu1012Ser VAR_067149
32 CRB1 p.Ser1025Asn VAR_067150
33 CRB1 p.Thr1099Lys VAR_067151
34 CRB1 p.Cys1174Gly VAR_067153
35 CRB1 p.Pro1305Leu VAR_067156
36 CRB1 p.Lys534Asn VAR_068363

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 CRB1 CRB1, ALU INS, NT2320 insertion Pathogenic
2 CRB1 NM_201253.2(CRB1): c.3122T> C (p.Met1041Thr) single nucleotide variant Pathogenic rs62635656 GRCh37 Chromosome 1, 197404115: 197404115
3 CRB1 NM_201253.2(CRB1): c.2983G> T (p.Glu995Ter) single nucleotide variant Pathogenic rs62635655 GRCh37 Chromosome 1, 197403976: 197403976
4 CRB1 NM_201253.2(CRB1): c.2290C> T (p.Arg764Cys) single nucleotide variant Pathogenic rs62635654 GRCh37 Chromosome 1, 197396745: 197396745
5 CRB1 NM_201253.2(CRB1): c.2234C> T (p.Thr745Met) single nucleotide variant Pathogenic rs28939720 GRCh37 Chromosome 1, 197396689: 197396689
6 CRB1 NM_201253.2(CRB1): c.2401A> T (p.Lys801Ter) single nucleotide variant Pathogenic rs137853137 GRCh37 Chromosome 1, 197396856: 197396856
7 CRB1 NM_201253.2(CRB1): c.3541T> C (p.Cys1181Arg) single nucleotide variant Pathogenic rs62636291 GRCh37 Chromosome 1, 197404534: 197404534
8 CRB1 NM_201253.2(CRB1): c.3307G> A (p.Gly1103Arg) single nucleotide variant Pathogenic rs62636275 GRCh37 Chromosome 1, 197404300: 197404300
9 CRB1 NM_201253.2(CRB1): c.4121_4130delCAACTCAGGG (p.Ala1374Glufs) deletion Pathogenic rs281865175 GRCh37 Chromosome 1, 197446909: 197446918
10 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
11 CRB1 NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter) single nucleotide variant Pathogenic rs114342808 GRCh37 Chromosome 1, 197390534: 197390534
12 CRB1 NM_201253.2(CRB1): c.3383delT (p.Ile1128Thrfs) deletion Pathogenic rs794727980 GRCh37 Chromosome 1, 197404376: 197404376
13 CRB1 NM_201253.2(CRB1): c.2227G> C (p.Val743Leu) single nucleotide variant Likely pathogenic rs863224862 GRCh37 Chromosome 1, 197396682: 197396682
14 CRB1 NM_201253.2(CRB1): c.799_800delGCinsA (p.Ala267Thrfs) indel Pathogenic rs886043587 GRCh37 Chromosome 1, 197313557: 197313558

Expression for Retinitis Pigmentosa-12, Autosomal Recessive

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

Pathways for Retinitis Pigmentosa-12, Autosomal Recessive

GO Terms for Retinitis Pigmentosa-12, Autosomal Recessive

Sources for Retinitis Pigmentosa-12, Autosomal Recessive

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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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