MCID: ODN003
MIFTS: 11

O Donnell Pappas Syndrome malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for O Donnell Pappas Syndrome

Aliases & Descriptions for O Donnell Pappas Syndrome:

Name: O Donnell Pappas Syndrome 50
Foveal Hypoplasia, Congenital Nystagmus, Corneal Pannus, and Presenile Cataracts 50
Foveal Hypoplasia and Presenile Cataract Syndrome 24
Foveal Hypoplasia-Presenile Cataract Syndrome 29
Foveal Hypoplasia, Presenile Cataract 50
O'donnell Pappas Syndrome 69

Classifications:



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:

id Related Disease Score Top Affiliating Genes
1 foveal hypoplasia 1 11.4

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

Genetic tests related to O Donnell Pappas Syndrome:

id Genetic test Affiliating Genes
1 Foveal Hypoplasia and Presenile Cataract Syndrome 29 24 PAX6

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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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