MCID: ODN003
MIFTS: 12

O Donnell Pappas Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for O Donnell Pappas Syndrome

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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

About this section
Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

o donnell pappas syndrome 44
foveal hypoplasia, presenile cataract 44 21 23
foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts 44
o'donnell pappas syndrome 63


Related Diseases for O Donnell Pappas Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for O Donnell Pappas Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for O Donnell Pappas Syndrome

Drug clinical trials:

Search ClinicalTrials for O Donnell Pappas Syndrome

Search NIH Clinical Center for O Donnell Pappas Syndrome

Search CenterWatch for O Donnell Pappas Syndrome

Genetic Tests for O Donnell Pappas Syndrome

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to O Donnell Pappas Syndrome:

id Genetic test Affiliating Genes
1 Foveal Hypoplasia and Presenile Cataract Syndrome21 23 PAX6

Anatomical Context for O Donnell Pappas Syndrome

About this section

Animal Models for O Donnell Pappas Syndrome or affiliated genes

About this section

Publications for O Donnell Pappas Syndrome

About this section

Variations for O Donnell Pappas Syndrome

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with O Donnell Pappas Syndrome

About this section

GO Terms for genes affiliated with O Donnell Pappas Syndrome

About this section

Products for genes affiliated with O Donnell Pappas Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for O Donnell Pappas Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet