MCID: FVL004
MIFTS: 20

Foveal Hyperplasia malady

Eye diseases category

Summaries for Foveal Hyperplasia

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Sources:
46OMIM, 32MalaCards
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MalaCards: Foveal Hyperplasia, also known as foveal hypoplasia - presenile cataract, is related to o donnell pappas syndrome, 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 Foveal Hyperplasia is PAX6 (paired box 6). Affiliated tissues include eye and skin.

Description from OMIM:46 136520

Aliases & Classifications for Foveal Hyperplasia

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
foveal hypoplasia - presenile cataract:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

foveal hyperplasia 46
foveal hypoplasia - presenile cataract 48
o'donnell-pappas syndrome 48
o'donnell pappas syndrome 60


External Ids:

OMIM46 136520
ICD10 via Orphanet26 H26.0

Related Diseases for Foveal Hyperplasia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Foveal Hyperplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1o donnell pappas syndrome10.6

Clinical Features for Foveal Hyperplasia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

136520

Clinical synopsis from OMIM:

136520

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

Drugs & Therapeutics for Foveal Hyperplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Foveal Hyperplasia

Search CenterWatch for Foveal Hyperplasia

Genetic Tests for Foveal Hyperplasia

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Anatomical Context for Foveal Hyperplasia

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Sources:
32MalaCards
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MalaCards organs/tissues related to Foveal Hyperplasia:

32
Eye, Skin

Animal Models for Foveal Hyperplasia or affiliated genes

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Publications for Foveal Hyperplasia

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Genetic Variations for Foveal Hyperplasia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Foveal Hyperplasia:

62
id Symbol AA change Variation ID SNP ID
1PAX6p.Arg128CysVAR_003814
2PAX6p.Gly64ValVAR_008702
3PAX6p.Arg125CysVAR_017541

Expression for genes affiliated with Foveal Hyperplasia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Foveal Hyperplasia

Search GEO for disease gene expression data for Foveal Hyperplasia.

Pathways for genes affiliated with Foveal Hyperplasia

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Compounds for genes affiliated with Foveal Hyperplasia

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GO Terms for genes affiliated with Foveal Hyperplasia

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Products for genes affiliated with Foveal Hyperplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Foveal Hyperplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet