MCID: MCR252
MIFTS: 26

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 51 12 67
Mcops5 47 24 53 69
Retinal Dystrophy, Early-Onset, with or Without Pituitary Dysfunction 51 69
Syndromic Microphthalmia Type 5 47 53
Microphthalmia, Syndromic, 5 69 26
 
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 53
Microphthalmia Syndromic 5 47
Syndromic Microphthalmia 5 24
Otx2-Related Eye Disorders 47
Rdeop 69

Characteristics:

Orphanet epidemiological data:

53
mcops5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
microphthalmia, syndromic 5:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 610125
Orphanet53 ORPHA178364
ICD10 via Orphanet30 Q11.2

Summaries for Microphthalmia, Syndromic 5

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UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Microphthalmia, Syndromic 5:

 63 (show all 14)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism63 rare (5%) HP:0000028
2 micropenis63 rare (5%) HP:0000054
3 cleft palate63 rare (5%) HP:0000175
4 short stature63 rare (5%) HP:0004322
5 ectopic posterior pituitary63 rare (5%) HP:0011755
6 microcornea63 HP:0000482
7 cataract63 HP:0000518
8 retinal dystrophy63 HP:0000556
9 microphthalmia63 HP:0000568
10 coloboma63 HP:0000589
11 seizures63 HP:0001250
12 muscular hypotonia63 HP:0001252
13 global developmental delay63 HP:0001263
14 joint laxity63 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 526
2 Syndromic Microphthalmia 524 OTX2

Anatomical Context for Microphthalmia, Syndromic 5

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MalaCards organs/tissues related to Microphthalmia, Syndromic 5:

35
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:

69
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)SNVPathogenicrs104894464GRCh38Chr 14, 56802340: 56802340
3OTX2NM_172337.2(OTX2): c.235G> A (p.Glu79Lys)SNVPathogenicrs786205224GRCh37Chr 14, 57270920: 57270920
4OTX2OTX2, 1-BP INS, 402CinsertionPathogenicChr na, -1: -1
5OTX2OTX2, 2-BP INS, 576CTinsertionPathogenicChr na, -1: -1
6OTX2NM_172337.2(OTX2): c.413C> G (p.Ser138Ter)SNVPathogenicrs786205879GRCh37Chr 14, 57268910: 57268910
7OTX2OTX2, 16-BP DEL, NT221deletionPathogenicChr na, -1: -1
8OTX2NM_172337.2(OTX2): c.562G> T (p.Gly188Ter)SNVPathogenicrs397514463GRCh37Chr 14, 57268761: 57268761
9OTX2OTX2, ARG90SERSNVPathogenicChr na, -1: -1
10OTX2NM_172337.2(OTX2): c.463_464dupGC (p.Ser156Leufs)duplicationPathogenicrs786205873GRCh38Chr 14, 56802141: 56802142
11OTX2NM_172337.2(OTX2): c.265C> G (p.Arg89Gly)SNVPathogenicrs104894464GRCh37Chr 14, 57269058: 57269058
12OTX2NM_172337.2(OTX2): c.81delC (p.Ser28Profs)deletionPathogenicrs786205874GRCh38Chr 14, 56805376: 56805376
13OTX2NM_172337.2(OTX2): c.537T> A (p.Tyr179Ter)SNVPathogenicrs104894465GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet