MCID: MCR082
MIFTS: 24

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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MalaCards based summary: Microphthalmia Syndromic 5, is also known as syndromic microphthalmia type 5, and has symptoms including cryptorchidism, micropenis and cleft palate. 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, 21GeneTests, 23GTR, 46OMIM, 61UMLS, 27ICD10 via Orphanet
See all sources

Microphthalmia Syndromic 5, Aliases & Descriptions:

Name: Microphthalmia Syndromic 5 42
Syndromic Microphthalmia Type 5 42 21 23 48
Microphthalmia, Syndromic 5 46 61
 
Mcops5 42 48
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 48


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

48
syndromic microphthalmia type 5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet27 Q11.2
OMIM46 610125

Related Diseases for Microphthalmia Syndromic 5

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Symptoms for Microphthalmia Syndromic 5

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Symptoms by clinical synopsis from OMIM:

610125

Clinical features from OMIM:

610125

HPO human phenotypes related to Microphthalmia Syndromic 5:

(show all 13)
id Description Frequency HPO Source Accession
1 cryptorchidism rare (5%) HP:0000028
2 micropenis rare (5%) HP:0000054
3 cleft palate rare (5%) HP:0000175
4 short stature rare (5%) HP:0004322
5 ectopic posterior pituitary rare (5%) HP:0011755
6 autosomal dominant inheritance HP:0000006
7 microcornea HP:0000482
8 cataract HP:0000518
9 retinal dystrophy HP:0000556
10 coloboma HP:0000589
11 seizures HP:0001250
12 global developmental delay HP:0001263
13 joint laxity HP:0001388

Drugs & Therapeutics for Microphthalmia Syndromic 5

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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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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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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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Variations for Microphthalmia Syndromic 5

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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia Syndromic 5:

63
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:

7
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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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
  • Proteins
  • Kits and Assays

Sources for Microphthalmia Syndromic 5

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet