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

About this section

Aliases & Descriptions for Microphthalmia, Syndromic 5:

Name: Microphthalmia, Syndromic 5 49 11 65
Mcops5 45 22 51 67
Retinal Dystrophy, Early-Onset, with or Without Pituitary Dysfunction 49 67
Syndromic Microphthalmia Type 5 45 51
Microphthalmia, Syndromic, 5 67 24
 
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 51
Microphthalmia Syndromic 5 45
Syndromic Microphthalmia 5 22
Otx2-Related Eye Disorders 45
Rdeop 67

Characteristics:

Orphanet epidemiological data:

51
mcops5:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
microphthalmia, syndromic 5:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

OMIM49 610125
Orphanet51 178364
ICD10 via Orphanet28 Q11.2
UMLS65 C1864690

Summaries for Microphthalmia, Syndromic 5

About this section
UniProtKB/Swiss-Prot:67 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, eye and bone.

Description from OMIM:49 610125

Related Diseases for Microphthalmia, Syndromic 5

About this section

Symptoms for Microphthalmia, Syndromic 5

About this section

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:


joint laxity, seizures

Drugs & Therapeutics for Microphthalmia, Syndromic 5

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Microphthalmia, Syndromic 5

Genetic Tests for Microphthalmia, Syndromic 5

About this section

Genetic tests related to Microphthalmia, Syndromic 5:

id Genetic test Affiliating Genes
1 Syndromic Microphthalmia 522 OTX2

Anatomical Context for Microphthalmia, Syndromic 5

About this section

MalaCards organs/tissues related to Microphthalmia, Syndromic 5:

33
Pituitary, Eye, Bone

Animal Models for Microphthalmia, Syndromic 5 or affiliated genes

About this section

Publications for Microphthalmia, Syndromic 5

About this section

Variations for Microphthalmia, Syndromic 5

About this section

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

67
id Symbol AA change Variation ID SNP ID
1OTX2p.Arg89GlyVAR_029354
2OTX2p.Pro133ThrVAR_029355
3OTX2p.Pro134AlaVAR_029356
4OTX2p.Arg90SerVAR_065952
5OTX2p.Glu79LysVAR_073793

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

About this section
Search GEO for disease gene expression data for Microphthalmia, Syndromic 5.

Pathways for genes affiliated with Microphthalmia, Syndromic 5

About this section

GO Terms for genes affiliated with Microphthalmia, Syndromic 5

About this section

Sources for Microphthalmia, Syndromic 5

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet