MCID: ODN003
MIFTS: 12

O Donnell Pappas Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for O Donnell Pappas Syndrome

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Sources:
33MalaCards
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MalaCards: O Donnell Pappas Syndrome, also known as foveal hypoplasia, presenile cataract, is related to foveal hypoplasia. An important gene associated with O Donnell Pappas Syndrome is PAX6 (paired box 6).

Aliases & Classifications for O Donnell Pappas Syndrome

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS
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Classifications:

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


Aliases & Descriptions:

o donnell pappas syndrome 43
foveal hypoplasia, presenile cataract 43 20 22
foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts 43
o'donnell pappas syndrome 62


Related Diseases for O Donnell Pappas Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to O Donnell Pappas Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1foveal hypoplasia10.5

Symptoms for O Donnell Pappas Syndrome

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Drugs & Therapeutics for O Donnell Pappas Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for O Donnell Pappas Syndrome

Genetic Tests for O Donnell Pappas Syndrome

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20GeneTests, 22GTR
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Genetic tests related to O Donnell Pappas Syndrome:

id Genetic test Affiliating Genes
1 Foveal Hypoplasia and Presenile Cataract Syndrome20 22 PAX6

Anatomical Context for O Donnell Pappas Syndrome

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Animal Models for O Donnell Pappas Syndrome or affiliated genes

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Publications for O Donnell Pappas Syndrome

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Variations for O Donnell Pappas Syndrome

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for O Donnell Pappas Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1PAX6NM_000280.4(PAX6): c.382C> T (p.Arg128Cys)single nucleotide variantPathogenicrs121907918GRCh37Chr 11, 31822380: 31822380
2PAX6NM_000280.4(PAX6): c.10+5G> Csingle nucleotide variantPathogenicGRCh38Chr 11, 31806397: 31806397

Expression for genes affiliated with O Donnell Pappas Syndrome

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with O Donnell Pappas Syndrome

Search GEO for disease gene expression data for O Donnell Pappas Syndrome.

Pathways for genes affiliated with O Donnell Pappas Syndrome

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Compounds for genes affiliated with O Donnell Pappas Syndrome

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GO Terms for genes affiliated with O Donnell Pappas Syndrome

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Products for genes affiliated with O Donnell Pappas Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for O Donnell Pappas Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet