MCID: CNR003
MIFTS: 12

Cone-Rod Dystrophy 1 malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Cone-Rod Dystrophy 1

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Cone-Rod Dystrophy 1, Aliases & Descriptions:

Name: Cone-Rod Dystrophy 1 41 20 60
Retinitis Pigmentosa 1 60
 
Cord1 41


Classifications:

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


Summaries for Cone-Rod Dystrophy 1

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MalaCards based summary: Cone-Rod Dystrophy 1, also known as retinitis pigmentosa 1, is related to leber congenital amaurosis and retinitis. An important gene associated with Cone-Rod Dystrophy 1 is RP1 (retinitis pigmentosa 1 (autosomal dominant)). Related mouse phenotype vision/eye.

Related Diseases for Cone-Rod Dystrophy 1

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Diseases related to Cone-Rod Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis10.2RPGR
2retinitis10.1RP1
3cone-rod dystrophy10.1
4blindness9.9RPGR, RP1
5retinitis pigmentosa autosomal recessive9.9RPGR, RP1
6retinal degeneration9.7RP1, RPGR

Symptoms for Cone-Rod Dystrophy 1

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Drugs & Therapeutics for Cone-Rod Dystrophy 1

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Drug clinical trials:

Search ClinicalTrials for Cone-Rod Dystrophy 1

Search NIH Clinical Center for Cone-Rod Dystrophy 1

Genetic Tests for Cone-Rod Dystrophy 1

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Genetic tests related to Cone-Rod Dystrophy 1:

id Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 120 RPGR

Anatomical Context for Cone-Rod Dystrophy 1

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Animal Models for Cone-Rod Dystrophy 1 or affiliated genes

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MGI Mouse Phenotypes related to Cone-Rod Dystrophy 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.1RPGR, RP1

Publications for Cone-Rod Dystrophy 1

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Variations for Cone-Rod Dystrophy 1

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Clinvar genetic disease variations for Cone-Rod Dystrophy 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1RP1NM_006269.1(RP1): c.2035C> T (p.Gln679Ter)single nucleotide variantPathogenicrs104894083GRCh37Chr 8, 55538477: 55538477
2RP1NM_006269.1(RP1): c.1118C> T (p.Thr373Ile)single nucleotide variantPathogenicrs77775126GRCh37Chr 8, 55537560: 55537560

Expression for genes affiliated with Cone-Rod Dystrophy 1

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Search GEO for disease gene expression data for Cone-Rod Dystrophy 1.

Pathways for genes affiliated with Cone-Rod Dystrophy 1

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Compounds for genes affiliated with Cone-Rod Dystrophy 1

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GO Terms for genes affiliated with Cone-Rod Dystrophy 1

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Cellular components related to Cone-Rod Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.1RPGR, RP1

Biological processes related to Cone-Rod Dystrophy 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.1RPGR, RP1

Products for genes affiliated with Cone-Rod Dystrophy 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cone-Rod Dystrophy 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet