MCID: MCR252
MIFTS: 27

Microphthalmia, Syndromic 5

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

Aliases & Classifications for Microphthalmia, Syndromic 5

MalaCards integrated aliases for Microphthalmia, Syndromic 5:

Name: Microphthalmia, Syndromic 5 53 13 69
Mcops5 53 49 55 71
Retinal Dystrophy, Early-Onset, with or Without Pituitary Dysfunction 53 71
Syndromic Microphthalmia Type 5 49 55
Microphthalmia Syndromic 5 49 28
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 55
Microphthalmia, Syndromic, 5 71
Otx2-Related Eye Disorders 49
Rdeop 71

Characteristics:

Orphanet epidemiological data:

55
syndromic microphthalmia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
marked phenotypic variability in some families


HPO:

31
microphthalmia, syndromic 5:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


Summaries for Microphthalmia, Syndromic 5

UniProtKB/Swiss-Prot : 71 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, and has symptoms including seizures, joint laxity and cataract. An important gene associated with Microphthalmia, Syndromic 5 is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include pituitary and eye.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Microphthalmia.

Description from OMIM: 610125

Related Diseases for Microphthalmia, Syndromic 5

Diseases in the Microphthalmia, Syndromic 6 family:

Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 2
Microphthalmia, Syndromic 13 Microphthalmia, Syndromic 4
Microphthalmia, Syndromic 1 Microphthalmia, Syndromic 9
Microphthalmia, Syndromic 8 Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11
Microphthalmia, Syndromic 12

Diseases related to Microphthalmia, Syndromic 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia 9.8

Symptoms & Phenotypes for Microphthalmia, Syndromic 5

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity

Neurologic Central Nervous System:
developmental delay
hypotonia
seizures (rare)
corpus callosum, agenesis of (in some patients)
pituitary hypoplasia (in some patients)
more
Growth Height:
short stature (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism (rare)

Head And Neck Eyes:
cataract
microcornea
retinal dystrophy
coloboma
microphthalmia, unilateral or bilateral
more
Head And Neck Mouth:
cleft palate (in some patients)
dysgnathia or agnathnia (in some patients)

Genitourinary External Genitalia Male:
small penis (rare)

Endocrine Features:
pituitary hypoplasia (in some patients)
pituitary hormone deficiencies (in some patients)


Clinical features from OMIM:

610125

Human phenotypes related to Microphthalmia, Syndromic 5:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 joint laxity 31 HP:0001388
3 cataract 31 HP:0000518
4 global developmental delay 31 HP:0001263
5 short stature 31 occasional (7.5%) HP:0004322
6 cleft palate 31 occasional (7.5%) HP:0000175
7 cryptorchidism 31 occasional (7.5%) HP:0000028
8 microphthalmia 31 HP:0000568
9 microcornea 31 HP:0000482
10 micropenis 31 occasional (7.5%) HP:0000054
11 retinal dystrophy 31 HP:0000556
12 generalized hypotonia 31 HP:0001290
13 coloboma 31 HP:0000589
14 ectopic posterior pituitary 31 occasional (7.5%) HP:0011755

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:

# Genetic test Affiliating Genes
1 Microphthalmia Syndromic 5 28 OTX2

Anatomical Context for Microphthalmia, Syndromic 5

MalaCards organs/tissues related to Microphthalmia, Syndromic 5:

38
Pituitary, Eye

Publications for Microphthalmia, Syndromic 5

Articles related to Microphthalmia, Syndromic 5:

# Title Authors Year
1
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. ( 28388256 )
2017

Variations for Microphthalmia, Syndromic 5

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

71
# 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)
# 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_021728.3(OTX2): c.259G> A (p.Glu87Lys) single nucleotide variant Pathogenic/Likely 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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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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