MCID: ODN003
MIFTS: 7

O Donnell Pappas Syndrome

Categories: Rare diseases

Aliases & Classifications for O Donnell Pappas Syndrome

MalaCards integrated aliases for O Donnell Pappas Syndrome:

Name: O Donnell Pappas Syndrome 49
Foveal Hypoplasia, Congenital Nystagmus, Corneal Pannus, and Presenile Cataracts 49
Foveal Hypoplasia, Presenile Cataract 49
O'donnell Pappas Syndrome 69

Classifications:



External Ids:

UMLS 69 C2931644

Summaries for O Donnell Pappas Syndrome

MalaCards based summary : O Donnell Pappas Syndrome, also known as foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts, is related to foveal hypoplasia 1. An important gene associated with O Donnell Pappas Syndrome is PAX6 (Paired Box 6).

Related Diseases for O Donnell Pappas Syndrome

Diseases related to O Donnell Pappas Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 foveal hypoplasia 1 11.5

Symptoms & Phenotypes for O Donnell Pappas Syndrome

Drugs & Therapeutics for O Donnell Pappas Syndrome

Search Clinical Trials , NIH Clinical Center for O Donnell Pappas Syndrome

Genetic Tests for O Donnell Pappas Syndrome

Anatomical Context for O Donnell Pappas Syndrome

Publications for O Donnell Pappas Syndrome

Variations for O Donnell Pappas Syndrome

ClinVar genetic disease variations for O Donnell Pappas Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.382C> T (p.Arg128Cys) single nucleotide variant Pathogenic rs121907918 GRCh37 Chromosome 11, 31822380: 31822380
2 PAX6 NM_000280.4(PAX6): c.10+5G> C single nucleotide variant Pathogenic rs587776572 GRCh38 Chromosome 11, 31806397: 31806397

Expression for O Donnell Pappas Syndrome

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

Pathways for O Donnell Pappas Syndrome

GO Terms for O Donnell Pappas Syndrome

Sources for O Donnell Pappas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
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43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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