MCOPS5
MCID: MCR252
MIFTS: 27

Microphthalmia, Syndromic 5 (MCOPS5) 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

Aliases & Descriptions for Microphthalmia, Syndromic 5:

Name: Microphthalmia, Syndromic 5 54 24 13 69
Mcops5 50 24 56 66
Retinal Dystrophy, Early-Onset, with or Without Pituitary Dysfunction 54 66
Syndromic Microphthalmia Type 5 50 56
Microphthalmia, Syndromic, 5 66 29
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 56
Microphthalmia Syndromic 5 50
Otx2-Related Eye Disorders 50
Rdeop 66

Characteristics:

Orphanet epidemiological data:

56
syndromic microphthalmia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
microphthalmia, syndromic 5:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 610125
Orphanet 56 ORPHA178364
ICD10 via Orphanet 34 Q11.2

Summaries for Microphthalmia, Syndromic 5

UniProtKB/Swiss-Prot : 66 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 microphthalmia, and has symptoms including seizures, joint laxity and muscular hypotonia. An important gene associated with Microphthalmia, Syndromic 5 is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include eye and pituitary.

Description from OMIM: 610125

Related Diseases for Microphthalmia, Syndromic 5

Symptoms & Phenotypes for Microphthalmia, Syndromic 5

Symptoms by clinical synopsis from OMIM:

610125

Clinical features from OMIM:

610125

Human phenotypes related to Microphthalmia, Syndromic 5:

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 joint laxity 32 HP:0001388
3 muscular hypotonia 32 HP:0001252
4 cataract 32 HP:0000518
5 global developmental delay 32 HP:0001263
6 short stature 32 HP:0004322
7 cleft palate 32 HP:0000175
8 cryptorchidism 32 HP:0000028
9 microphthalmia 32 HP:0000568
10 microcornea 32 HP:0000482
11 micropenis 32 HP:0000054
12 retinal dystrophy 32 HP:0000556
13 coloboma 32 HP:0000589
14 ectopic posterior pituitary 32 HP:0011755

UMLS symptoms related to Microphthalmia, Syndromic 5:


joint laxity

Drugs & Therapeutics for Microphthalmia, Syndromic 5

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 5

Genetic Tests for Microphthalmia, Syndromic 5

Genetic tests related to Microphthalmia, Syndromic 5:

id Genetic test Affiliating Genes
1 Microphthalmia Syndromic 5 29
2 Microphthalmia, Syndromic 5 24 OTX2

Anatomical Context for Microphthalmia, Syndromic 5

MalaCards organs/tissues related to Microphthalmia, Syndromic 5:

39
Eye, Pituitary

Publications for Microphthalmia, Syndromic 5

Variations for Microphthalmia, Syndromic 5

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

66
id Symbol AA change Variation ID SNP ID
1 OTX2 p.Arg89Gly VAR_029354 rs104894464
2 OTX2 p.Pro133Thr VAR_029355 rs376333965
3 OTX2 p.Pro134Ala VAR_029356 rs753783256
4 OTX2 p.Arg90Ser VAR_065952
5 OTX2 p.Glu79Lys VAR_073793 rs786205224

ClinVar genetic disease variations for Microphthalmia, Syndromic 5:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 OTX2 NM_172337.2(OTX2): c.463_464dupGC (p.Ser156Leufs) duplication Pathogenic rs786205873 GRCh38 Chromosome 14, 56802141: 56802142
2 OTX2 NM_172337.2(OTX2): c.265C> G (p.Arg89Gly) single nucleotide variant Pathogenic rs104894464 GRCh37 Chromosome 14, 57269058: 57269058
3 OTX2 NM_172337.2(OTX2): c.81delC (p.Ser28Profs) deletion Pathogenic rs786205874 GRCh38 Chromosome 14, 56805376: 56805376
4 OTX2 NM_172337.2(OTX2): c.537T> A (p.Tyr179Ter) single nucleotide variant Pathogenic rs104894465 GRCh37 Chromosome 14, 57268786: 57268786
5 OTX2 OTX2, 1-BP INS, 402C insertion Pathogenic
6 OTX2 OTX2, 2-BP INS, 576CT insertion Pathogenic
7 OTX2 NM_172337.2(OTX2): c.413C> G (p.Ser138Ter) single nucleotide variant Pathogenic rs786205879 GRCh37 Chromosome 14, 57268910: 57268910
8 OTX2 OTX2, 16-BP DEL, NT221 deletion Pathogenic
9 OTX2 NM_172337.2(OTX2): c.562G> T (p.Gly188Ter) single nucleotide variant Pathogenic rs397514463 GRCh37 Chromosome 14, 57268761: 57268761
10 OTX2 OTX2, ARG90SER single nucleotide variant Pathogenic
11 OTX2 NM_021728.3(OTX2): c.316delC (p.Gln106Asnfs) deletion Pathogenic rs786205884 GRCh38 Chromosome 14, 56802313: 56802313
12 OTX2 NM_021728.3(OTX2): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs104894464 GRCh38 Chromosome 14, 56802340: 56802340
13 OTX2 NM_172337.2(OTX2): c.235G> A (p.Glu79Lys) single nucleotide variant Pathogenic rs786205224 GRCh37 Chromosome 14, 57270920: 57270920

Expression for Microphthalmia, Syndromic 5

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

Pathways for Microphthalmia, Syndromic 5

GO Terms for Microphthalmia, Syndromic 5

Sources for Microphthalmia, Syndromic 5

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