MCID: RTN091
MIFTS: 22

Retinitis Pigmentosa, Juvenile malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Retinitis Pigmentosa, Juvenile

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MalaCards based summary: Retinitis Pigmentosa, Juvenile is related to retinitis pigmentosa, juvenile, autosomal recessive and fundus dystrophy. An important gene associated with Retinitis Pigmentosa, Juvenile is LRAT (lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)). The compound vitamin a have been mentioned in the context of this disorder. Related mouse phenotype vision/eye.

Descriptions from OMIM:46 613341,604393

Aliases & Classifications for Retinitis Pigmentosa, Juvenile

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Retinitis Pigmentosa, Juvenile, Aliases & Descriptions:

Name: Retinitis Pigmentosa, Juvenile 46


Classifications:

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


Related Diseases for Retinitis Pigmentosa, Juvenile

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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 67 Retinitis Pigmentosa 39
Retinitis Pigmentosa 58 Retinitis Pigmentosa 54
Retinitis Pigmentosa 38 Retinitis Pigmentosa 47
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
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 51 Retinitis Pigmentosa 37
Retinitis Pigmentosa 45 Retinitis Pigmentosa 57
Retinitis Pigmentosa 46 Retinitis Pigmentosa 69
Retinitis Pigmentosa 60 Retinitis Pigmentosa 2

Diseases related to Retinitis Pigmentosa, Juvenile via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1retinitis pigmentosa, juvenile, autosomal recessive10.3
2fundus dystrophy9.9AIPL1, LRAT
3rhyns syndrome9.9AIPL1, LRAT
4leber congenital amaurosis9.8AIPL1, LRAT
5retinal degeneration9.8AIPL1, LRAT

Graphical network of diseases related to Retinitis Pigmentosa, Juvenile:



Diseases related to retinitis pigmentosa, juvenile

Symptoms for Retinitis Pigmentosa, Juvenile

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Clinical features from OMIM:

613341,604393

Drugs & Therapeutics for Retinitis Pigmentosa, Juvenile

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Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa, Juvenile

Search NIH Clinical Center for Retinitis Pigmentosa, Juvenile

Genetic Tests for Retinitis Pigmentosa, Juvenile

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Anatomical Context for Retinitis Pigmentosa, Juvenile

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Animal Models for Retinitis Pigmentosa, Juvenile or affiliated genes

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MGI Mouse Phenotypes related to Retinitis Pigmentosa, Juvenile:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1LRAT, AIPL1

Publications for Retinitis Pigmentosa, Juvenile

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Variations for Retinitis Pigmentosa, Juvenile

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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa, Juvenile:

64
id Symbol AA change Variation ID SNP ID
1AIPL1p.Cys239ArgVAR_010139
2AIPL1p.Arg270HisVAR_067165
3LRATp.Ser175ArgVAR_018386

Clinvar genetic disease variations for Retinitis Pigmentosa, Juvenile:

6
id Gene Name Type Significance SNP ID Assembly Location
1AIPL1NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter)single nucleotide variantPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
2AIPL1NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
3AIPL1NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg)single nucleotide variantPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
4AIPL1NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser)single nucleotide variantPathogenicrs61757484GRCh37Chr 17, 6328809: 6328809
5AIPL1NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro)single nucleotide variantPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
6AIPL1NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn)single nucleotide variantPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
7AIPL1NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser)single nucleotide variantPathogenicrs142326926GRCh37Chr 17, 6329935: 6329935
8AIPL1NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu)single nucleotide variantPathogenicrs62637015GRCh37Chr 17, 6329030: 6329030

Expression for genes affiliated with Retinitis Pigmentosa, Juvenile

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Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa, Juvenile

Search GEO for disease gene expression data for Retinitis Pigmentosa, Juvenile.

Pathways for genes affiliated with Retinitis Pigmentosa, Juvenile

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Compounds for genes affiliated with Retinitis Pigmentosa, Juvenile

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Retinitis Pigmentosa, Juvenile according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vitamin a44 24 1111.1LRAT, AIPL1

GO Terms for genes affiliated with Retinitis Pigmentosa, Juvenile

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Biological processes related to Retinitis Pigmentosa, Juvenile according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:0076019.1LRAT, AIPL1
2phototransduction, visible lightGO:0076038.8LRAT, AIPL1

Products for genes affiliated with Retinitis Pigmentosa, Juvenile

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  • Antibodies
  • Proteins
  • Lysates

Sources for Retinitis Pigmentosa, Juvenile

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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