MCID: MCR252
MIFTS: 27

Microphthalmia, Syndromic 5 malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Bone diseases, Reproductive diseases, Ear diseases, Respiratory diseases, Cardiovascular diseases, Mental diseases

Aliases & Classifications for Microphthalmia, Syndromic 5

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Aliases & Descriptions for Microphthalmia, Syndromic 5:

Name: Microphthalmia, Syndromic 5 50 12 66
Mcops5 46 23 52 68
Retinal Dystrophy, Early-Onset, with or Without Pituitary Dysfunction 50 68
Syndromic Microphthalmia Type 5 46 52
Microphthalmia, Syndromic, 5 68 25
 
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 52
Microphthalmia Syndromic 5 46
Otx2-Related Eye Disorders 46
Syndromic Microphthalmia 5 23
Rdeop 68

Characteristics:

Orphanet epidemiological data:

52
mcops5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
microphthalmia, syndromic 5:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 610125
Orphanet52 ORPHA178364
ICD10 via Orphanet29 Q11.2

Summaries for Microphthalmia, Syndromic 5

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UniProtKB/Swiss-Prot:68 Microphthalmia, syndromic, 5: Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. Retinal dystrophy, early-onset, with or without pituitary dysfunction: An autosomal dominant ocular disease characterized by pattern dystrophy of the retinal pigment epithelium, and photoreceptor degeneration. Mild developmental anomalies include optic nerve head dysplasia, microcornea, and Rathke's cleft cyst. Some patients manifest pituary dysfunction.

MalaCards based summary: Microphthalmia, Syndromic 5, also known as mcops5, 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:50 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 14)
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 microcornea HP:0000482
7 cataract HP:0000518
8 retinal dystrophy HP:0000556
9 microphthalmia HP:0000568
10 coloboma HP:0000589
11 seizures HP:0001250
12 muscular hypotonia HP:0001252
13 global developmental delay HP:0001263
14 joint laxity HP:0001388

UMLS symptoms related to Microphthalmia, Syndromic 5:


seizures, joint laxity

Drugs & Therapeutics for Microphthalmia, Syndromic 5

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Interventional clinical trials:

Search ClinicalTrials, 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 Microphthalmia Syndromic 525
2 Syndromic Microphthalmia 523 OTX2

Anatomical Context for Microphthalmia, Syndromic 5

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MalaCards organs/tissues related to Microphthalmia, Syndromic 5:

34
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:

68
id Symbol AA change Variation ID SNP ID
1OTX2p.Arg89GlyVAR_029354rs104894464
2OTX2p.Pro133ThrVAR_029355rs376333965
3OTX2p.Pro134AlaVAR_029356rs753783256
4OTX2p.Arg90SerVAR_065952
5OTX2p.Glu79LysVAR_073793rs786205224

Clinvar genetic disease variations for Microphthalmia, Syndromic 5:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1OTX2NM_021728.3(OTX2): c.316delC (p.Gln106Asnfs)deletionPathogenicrs786205884GRCh38Chr 14, 56802313: 56802313
2OTX2NM_021728.3(OTX2): c.289C> T (p.Arg97Ter)single nucleotide variantPathogenicrs104894464GRCh38Chr 14, 56802340: 56802340
3OTX2NM_172337.2(OTX2): c.235G> A (p.Glu79Lys)single nucleotide variantPathogenicrs786205224GRCh37Chr 14, 57270920: 57270920
4OTX2OTX2, 1-BP INS, 402CinsertionPathogenic
5OTX2OTX2, 2-BP INS, 576CTinsertionPathogenic
6OTX2NM_172337.2(OTX2): c.413C> G (p.Ser138Ter)single nucleotide variantPathogenicrs786205879GRCh37Chr 14, 57268910: 57268910
7OTX2OTX2, 16-BP DEL, NT221deletionPathogenic
8OTX2NM_172337.2(OTX2): c.562G> T (p.Gly188Ter)single nucleotide variantPathogenicrs397514463GRCh37Chr 14, 57268761: 57268761
9OTX2OTX2, ARG90SERsingle nucleotide variantPathogenic
10OTX2NM_172337.2(OTX2): c.463_464dupGC (p.Ser156Leufs)duplicationPathogenicrs786205873GRCh38Chr 14, 56802141: 56802142
11OTX2NM_172337.2(OTX2): c.265C> G (p.Arg89Gly)single nucleotide variantPathogenicrs104894464GRCh37Chr 14, 57269058: 57269058
12OTX2NM_172337.2(OTX2): c.81delC (p.Ser28Profs)deletionPathogenicrs786205874GRCh38Chr 14, 56805376: 56805376
13OTX2NM_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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GO Terms for genes affiliated with Microphthalmia, Syndromic 5

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Sources for Microphthalmia, Syndromic 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet