MCID: RTN095

Retinitis Pigmentosa, Juvenile, Autosomal Recessive malady

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

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MalaCards based summary: Retinitis Pigmentosa, Juvenile, Autosomal Recessive An important gene associated with Retinitis Pigmentosa, Juvenile, Autosomal Recessive is SPATA7 (spermatogenesis associated 7).

Description from OMIM:46 604232

Aliases & Classifications for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Retinitis Pigmentosa, Juvenile, Autosomal Recessive, Aliases & Descriptions:

Name: Retinitis Pigmentosa, Juvenile, Autosomal Recessive 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Symptoms for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Clinical features from OMIM:

604232

Drugs & Therapeutics for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

Search NIH Clinical Center for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

Genetic Tests for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Anatomical Context for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Animal Models for Retinitis Pigmentosa, Juvenile, Autosomal Recessive or affiliated genes

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Publications for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Variations for Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Clinvar genetic disease variations for Retinitis Pigmentosa, Juvenile, Autosomal Recessive:

6
id Gene Name Type Significance SNP ID Assembly Location
1SPATA7NM_018418.4(SPATA7): c.322C> T (p.Arg108Ter)single nucleotide variantPathogenicrs80044281GRCh37Chr 14, 88883138: 88883138
2SPATA7NM_018418.4(SPATA7): c.960dupA (p.Pro321Thrfs)duplicationPathogenicrs386834241GRCh37Chr 14, 88895739: 88895739
3SPATA7NM_018418.4(SPATA7): c.1183C> T (p.Arg395Ter)single nucleotide variantPathogenicrs75895925GRCh37Chr 14, 88903909: 88903909
4SPATA7NM_018418.4(SPATA7): c.1395delA (p.Gln465Hisfs)deletionPathogenicrs386834243GRCh37Chr 14, 88904361: 88904361
5SPATA7SPATA7, 4-BP DEL, 265CTCAdeletionPathogenic
6SPATA7SPATA7, 3-BP DEL, 1227CACdeletionPathogenic
7SPATA7NM_018418.4(SPATA7): c.253C> T (p.Arg85Ter)single nucleotide variantPathogenicrs140287375GRCh37Chr 14, 88883069: 88883069

Expression for genes affiliated with Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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

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Pathways for genes affiliated with Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Compounds for genes affiliated with Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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GO Terms for genes affiliated with Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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Products for genes affiliated with Retinitis Pigmentosa, Juvenile, Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates

Sources for Retinitis Pigmentosa, Juvenile, 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