MCID: MCR082
MIFTS: 20

Microphthalmia Syndromic 5 malady

Eye diseases category

Summaries for Microphthalmia Syndromic 5

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Sources:
46OMIM, 32MalaCards
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MalaCards: Microphthalmia Syndromic 5, is also known as syndromic microphthalmia type 5 An important gene associated with Microphthalmia Syndromic 5 is OTX2 (orthodenticle homeobox 2). Affiliated tissues include eye.

Description from OMIM:46 610125

Aliases & Classifications for Microphthalmia Syndromic 5

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Sources:
42NIH Rare Diseases, 48Orphanet, 20GeneTests, 22GTR, 46OMIM, 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
syndromic microphthalmia type 5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

microphthalmia syndromic 5 42
syndromic microphthalmia type 5 42 20 22 48
microphthalmia, syndromic 5 46 60
mcops5 42 48
syndromic microphthalmia/anophthalmia due to otx2 mutation 48


External Ids:

OMIM46 610125
ICD10 via Orphanet26 Q11.2

Related Diseases for Microphthalmia Syndromic 5

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Clinical Features for Microphthalmia Syndromic 5

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Sources:
46OMIM
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Clinical features from OMIM:

610125

Clinical synopsis from OMIM:

610125

Drugs & Therapeutics for Microphthalmia Syndromic 5

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

Search CenterWatch for Microphthalmia Syndromic 5

Drug clinical trials:

Search ClinicalTrials for Microphthalmia Syndromic 5

Search NIH Clinical Center for Microphthalmia Syndromic 5

Search CenterWatch for Microphthalmia Syndromic 5

Genetic Tests for Microphthalmia Syndromic 5

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Microphthalmia Syndromic 5:

id Genetic test Affiliating Genes
1 Syndromic Microphthalmia 520 OTX2
2 Microphthalmia Syndromic 522

Anatomical Context for Microphthalmia Syndromic 5

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32MalaCards
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MalaCards organs/tissues related to Microphthalmia Syndromic 5:

32
Eye

Animal Models for Microphthalmia Syndromic 5 or affiliated genes

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Publications for Microphthalmia Syndromic 5

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Genetic Variations for Microphthalmia Syndromic 5

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Microphthalmia Syndromic 5:

62
id Symbol AA change Variation ID SNP ID
1OTX2p.Arg89GlyVAR_029354
2OTX2p.Pro133ThrVAR_029355
3OTX2p.Pro134AlaVAR_029356
4OTX2p.Arg90SerVAR_065952

Expression for genes affiliated with Microphthalmia Syndromic 5

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Microphthalmia Syndromic 5

Search GEO for disease gene expression data for Microphthalmia Syndromic 5.

Pathways for genes affiliated with Microphthalmia Syndromic 5

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Compounds for genes affiliated with Microphthalmia Syndromic 5

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GO Terms for genes affiliated with Microphthalmia Syndromic 5

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Products for genes affiliated with Microphthalmia Syndromic 5

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microphthalmia Syndromic 5

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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