MCID: MCR082
MIFTS: 21

Microphthalmia Syndromic 5 malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Mental diseases, Fetal diseases, Reproductive diseases, Ear diseases, Skin diseases categories
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Summaries for Microphthalmia Syndromic 5

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Sources:
47OMIM, 33MalaCards
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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:47 610125

Aliases & Classifications for Microphthalmia Syndromic 5

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Sources:
43NIH Rare Diseases, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
syndromic microphthalmia type 5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

microphthalmia syndromic 5 43
syndromic microphthalmia type 5 43 20 22 49
microphthalmia, syndromic 5 47 62
mcops5 43 49
syndromic microphthalmia/anophthalmia due to otx2 mutation 49


External Ids:

OMIM47 610125
ICD10 via Orphanet26 Q11.2

Related Diseases for Microphthalmia Syndromic 5

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Symptoms for Microphthalmia Syndromic 5

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47OMIM
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Symptoms by clinical synopsis from OMIM:

610125

Clinical features from OMIM:

610125

Drugs & Therapeutics for Microphthalmia Syndromic 5

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Microphthalmia Syndromic 5

Search NIH Clinical Center for Microphthalmia Syndromic 5

Genetic Tests for Microphthalmia Syndromic 5

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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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33MalaCards
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MalaCards organs/tissues related to Microphthalmia Syndromic 5:

33
Eye

Animal Models for Microphthalmia Syndromic 5 or affiliated genes

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Publications for Microphthalmia Syndromic 5

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Variations for Microphthalmia Syndromic 5

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia Syndromic 5:

64
id Symbol AA change Variation ID SNP ID
1OTX2p.Arg89GlyVAR_029354
2OTX2p.Pro133ThrVAR_029355
3OTX2p.Pro134AlaVAR_029356
4OTX2p.Arg90SerVAR_065952

Clinvar genetic disease variations for Microphthalmia Syndromic 5:

1
id Gene Name Type Significance SNP ID Assembly Location
1OTX2OTX2, 1-BP INS, 402CinsertionPathogenic
2OTX2OTX2, 2-BP INS, 576CTinsertionPathogenic
3OTX2OTX2, 16-BP DEL, NT221deletionPathogenic
4OTX2NM_172337.2(OTX2): c.562G> T (p.Gly188Ter)single nucleotide variantPathogenicrs397514463GRCh37Chr 14, 57268761: 57268761
5OTX2OTX2, ARG90SERsingle nucleotide variantPathogenic
6OTX2OTX2, 2-BP INS, 464GCinsertionPathogenic
7OTX2NM_172337.2(OTX2): c.265C> G (p.Arg89Gly)single nucleotide variantPathogenicrs104894464GRCh37Chr 14, 57269058: 57269058
8OTX2OTX2, 1-BP DEL, 81CdeletionPathogenic
9OTX2NM_172337.2(OTX2): c.537T> A (p.Tyr179Ter)single nucleotide variantPathogenicrs104894465GRCh37Chr 14, 57268786: 57268786

Expression for genes affiliated with Microphthalmia Syndromic 5

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2BioGPS, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet