MCID: MCR252
MIFTS: 28

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:47 610125

Aliases & Classifications for Microphthalmia, Syndromic 5

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Sources:
47OMIM, 11diseasecard, 22GeneTests, 43NIH Rare Diseases, 49Orphanet, 24GTR, 28ICD10 via Orphanet
See all sources

Microphthalmia, Syndromic 5, Aliases & Descriptions:

Name: Microphthalmia, Syndromic 5 47 11
Syndromic Microphthalmia Type 5 43 22 49 24
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 43 49
 
Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction 47 22
Mcops5 43 49
Microphthalmia Syndromic 5 43


Classifications:

Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
syndromic microphthalmia type 5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM47 610125
Orphanet49 178364
ICD10 via Orphanet28 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 522 OTX2
2 Retinal Dystrophy, Early-Onset, and Pituitary Dysfunction22 OTX2
3 Microphthalmia Syndromic 524

Anatomical Context for Microphthalmia, Syndromic 5

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MalaCards organs/tissues related to Microphthalmia, Syndromic 5:

33
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:

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:

7
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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet