MCID: ODN003
MIFTS: 18

O Donnell Pappas Syndrome malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for O Donnell Pappas Syndrome

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

Aliases & Descriptions for O Donnell Pappas Syndrome:

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


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet51 2253
ICD10 via Orphanet28 H26.0

Summaries for O Donnell Pappas Syndrome

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MalaCards based summary: O Donnell Pappas Syndrome, is also known as foveal hypoplasia - presenile cataract, 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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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 24 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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Clinvar genetic disease variations for O Donnell Pappas Syndrome:

5
id Gene Variation 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 variantPathogenicrs587776572GRCh38Chr 11, 31806397: 31806397

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