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

Summaries for Microphthalmia Syndromic 5

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48OMIM, 34MalaCards
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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:48 610125

Aliases & Classifications for Microphthalmia Syndromic 5

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Sources:
44NIH Rare Diseases, 50Orphanet, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 27ICD10 via Orphanet
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Classifications:

Orphanet: 50 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

50
syndromic microphthalmia type 5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

microphthalmia syndromic 5 44
syndromic microphthalmia type 5 44 21 23 50
microphthalmia, syndromic 5 48 63
mcops5 44 50
syndromic microphthalmia/anophthalmia due to otx2 mutation 50


External Ids:

OMIM48 610125
ICD10 via Orphanet27 Q11.2

Related Diseases for Microphthalmia Syndromic 5

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Symptoms for Microphthalmia Syndromic 5

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Sources:
48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests, 23GTR
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Genetic tests related to Microphthalmia Syndromic 5:

id Genetic test Affiliating Genes
1 Syndromic Microphthalmia 521 OTX2
2 Microphthalmia Syndromic 523

Anatomical Context for Microphthalmia Syndromic 5

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34MalaCards
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MalaCards organs/tissues related to Microphthalmia Syndromic 5:

34
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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia Syndromic 5:

65
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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Sources:
2BioGPS, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet