MCID: MCR252
MIFTS: 24

Microphthalmia, Syndromic 5 malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Reproductive diseases, Ear diseases, Respiratory diseases, Skin diseases, Mental diseases categories

Summaries for Microphthalmia, Syndromic 5

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MalaCards based summary: Microphthalmia, Syndromic 5, also known as syndromic microphthalmia type 5, is related to microphthalmia, syndromic 1, 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 pituitary and eye.

Description from OMIM:45 610125

Aliases & Classifications for Microphthalmia, Syndromic 5

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Sources:
45OMIM, 10diseasecard, 60UMLS, 20GeneTests, 41NIH Rare Diseases, 47Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Microphthalmia, Syndromic 5, Aliases & Descriptions:

Name: Microphthalmia, Syndromic 5 45 10 60
Syndromic Microphthalmia Type 5 41 20 47 22
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 41 47
 
Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction 45 20
Mcops5 41 47
Microphthalmia Syndromic 5 41


Classifications:

Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
syndromic microphthalmia type 5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 610125
Orphanet47 178364
ICD10 via Orphanet26 Q11.2

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 520 OTX2
2 Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction20 OTX2
3 Microphthalmia Syndromic 522

Anatomical Context for Microphthalmia, Syndromic 5

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MalaCards organs/tissues related to Microphthalmia, Syndromic 5:

31
Pituitary, 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:

62
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:

6
id Gene Variation 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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet