MCID: ODN003
MIFTS: 17

O Donnell Pappas Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for O Donnell Pappas Syndrome

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Sources:
45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for O Donnell Pappas Syndrome:

Name: O Donnell Pappas Syndrome 45
Foveal Hypoplasia-Presenile Cataract Syndrome 51 24
Foveal Hypoplasia, Congenital Nystagmus, Corneal Pannus, and Presenile Cataracts 45
Foveal Hypoplasia and Presenile Cataract Syndrome 22
 
Foveal Hypoplasia, Presenile Cataract 45
O'donnell-Pappas Syndrome 51
O'donnell Pappas Syndrome 65

Characteristics:

Orphanet epidemiological data:

51
foveal hypoplasia-presenile cataract syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Orphanet51 2253
ICD10 via Orphanet28 H26.0
UMLS65 C2931644

Summaries for O Donnell Pappas Syndrome

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MalaCards based summary: O Donnell Pappas Syndrome, also known as foveal hypoplasia-presenile cataract syndrome, is related to foveal hypoplasia 1, and has symptoms including anomalies of eyes and vision, cataract/lens opacification and optic nerve anomaly/optic atrophy/anomaly of the papilla. An important gene associated with O Donnell Pappas Syndrome is PAX6 (Paired Box 6). Affiliated tissues include eye and skin.

Related Diseases for O Donnell Pappas Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1foveal hypoplasia 111.4

Symptoms for O Donnell Pappas Syndrome

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Symptoms:

 51 (show all 7)
  • anomalies of eyes and vision
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • nystagmus
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • autosomal dominant inheritance
  • strabismus/squint

Drugs & Therapeutics for O Donnell Pappas Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for O Donnell Pappas Syndrome

Genetic Tests for O Donnell Pappas Syndrome

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Genetic tests related to O Donnell Pappas Syndrome:

id Genetic test Affiliating Genes
1 Foveal Hypoplasia and Presenile Cataract Syndrome22 PAX6

Anatomical Context for O Donnell Pappas Syndrome

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MalaCards organs/tissues related to O Donnell Pappas Syndrome:

33
Eye, Skin

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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Expression for genes affiliated with O Donnell Pappas Syndrome

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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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GO Terms for genes affiliated with O Donnell Pappas Syndrome

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Sources for O Donnell Pappas Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet