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:
42NIH Rare Diseases, 20GeneTests, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for O Donnell Pappas Syndrome:

Name: O Donnell Pappas Syndrome 42
Foveal Hypoplasia - Presenile Cataract 48 22
Foveal Hypoplasia, Presenile Cataract 42 20
 
Foveal Hypoplasia, Congenital Nystagmus, Corneal Pannus, and Presenile Cataracts 42
O'donnell-Pappas Syndrome 48
O'donnell Pappas Syndrome 61


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
foveal hypoplasia - presenile cataract:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Orphanet48 2253
ICD10 via Orphanet26 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 cataract, nystagmus and optic atrophy. 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:

 48 (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

HPO human phenotypes related to O Donnell Pappas Syndrome:

id Description Frequency HPO Source Accession
1 cataract hallmark (90%) HP:0000518
2 nystagmus hallmark (90%) HP:0000639
3 optic atrophy hallmark (90%) HP:0000648
4 generalized hyperpigmentation hallmark (90%) HP:0007440
5 strabismus typical (50%) HP:0000486

Drugs & Therapeutics for O Donnell Pappas Syndrome

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Drug clinical trials:

Search ClinicalTrials for O Donnell Pappas Syndrome

Search 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 Syndrome20 22 PAX6

Anatomical Context for O Donnell Pappas Syndrome

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MalaCards organs/tissues related to O Donnell Pappas Syndrome:

31
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 variantPathogenicGRCh38Chr 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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet