MCID: OPT037
MIFTS: 34

Optic Nerve Hypoplasia malady

Eye diseases, Neuronal diseases categories

Summaries for Optic Nerve Hypoplasia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic... more...

MalaCards: Optic Nerve Hypoplasia, also known as isolated optic nerve hypoplasia, is related to hypopituitarism and coloboma. An important gene associated with Optic Nerve Hypoplasia is PAX6 (paired box 6), and among its related pathways are Selected targets of Oct-3/4 and Cardiac Progenitor Differentiation. Affiliated tissues include brain, retina and eye, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

Description from OMIM:46 165550

Aliases & Classifications for Optic Nerve Hypoplasia

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46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

optic nerve hypoplasia 46
isolated optic nerve hypoplasia 48


External Ids:

OMIM46 165550
ICD10 via Orphanet26 H47.0

Related Diseases for Optic Nerve Hypoplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Optic Nerve Hypoplasia:



Diseases related to optic nerve hypoplasia

Clinical Features for Optic Nerve Hypoplasia

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46OMIM
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Clinical features from OMIM:

165550

Clinical synopsis from OMIM:

165550

Drugs & Therapeutics for Optic Nerve Hypoplasia

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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 Optic Nerve Hypoplasia

Search CenterWatch for Optic Nerve Hypoplasia

Genetic Tests for Optic Nerve Hypoplasia

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Anatomical Context for Optic Nerve Hypoplasia

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32MalaCards
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MalaCards organs/tissues related to Optic Nerve Hypoplasia:

32
Brain, Retina, Eye

Animal Models for Optic Nerve Hypoplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Optic Nerve Hypoplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.0HESX1, SOX2, PAX6
2MP:00053778.9PAX6, SOX2, HESX1
3MP:00053888.4NDUFS4, HESX1, SOX2, PAX6
4MP:00053918.3SOX2, NDUFS4, PAX6, HESX1
5MP:00028738.1SOX2, HESX1, PAX6, NDUFS4

Publications for Optic Nerve Hypoplasia

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Genetic Variations for Optic Nerve Hypoplasia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Optic Nerve Hypoplasia:

62
id Symbol AA change Variation ID SNP ID
1PAX6p.Ser292IleVAR_017543
2PAX6p.Met381ValVAR_017546
3PAX6p.Thr391AlaVAR_017547

Expression for genes affiliated with Optic Nerve Hypoplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Optic Nerve Hypoplasia

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Pathways for genes affiliated with Optic Nerve Hypoplasia

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Sources:
12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Optic Nerve Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PAX6, SOX2
29.5PAX6, SOX2
38.9PAX6, SOX2, HESX1

Compounds for genes affiliated with Optic Nerve Hypoplasia

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GO Terms for genes affiliated with Optic Nerve Hypoplasia

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16Gene Ontology
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Biological processes related to Optic Nerve Hypoplasia according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial cell differentiationGO:0308589.7PAX6, SOX2
2positive regulation of neuroblast proliferationGO:0020529.7PAX6, SOX2
3eye developmentGO:0016549.7PAX6, SOX2
4neuron fate commitmentGO:0486639.6PAX6, SOX2
5pituitary gland developmentGO:0219839.5SOX2, PAX6
6response to woundingGO:0096119.5PAX6, SOX2
7negative regulation of epithelial cell proliferationGO:0506809.4PAX6, SOX2
8negative regulation of neuron differentiationGO:0456659.2PAX6, SOX2

Products for genes affiliated with Optic Nerve Hypoplasia

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Optic Nerve Hypoplasia

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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