MCID: MCR252
MIFTS: 26

Microphthalmia, Syndromic 5

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

Aliases & Classifications for Microphthalmia, Syndromic 5

MalaCards integrated aliases for Microphthalmia, Syndromic 5:

Name: Microphthalmia, Syndromic 5 57 13 73
Mcops5 57 53 59 75
Microphthalmia Syndromic 5 53 29 6
Retinal Dystrophy, Early-Onset, with or Without Pituitary Dysfunction 57 75
Syndromic Microphthalmia Type 5 53 59
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation 59
Microphthalmia, Syndromic, Type 5 40
Microphthalmia, Syndromic, 5 75
Otx2-Related Eye Disorders 53
Rdeop 75

Characteristics:

Orphanet epidemiological data:

59
syndromic microphthalmia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
marked phenotypic variability in some families


HPO:

32
microphthalmia, syndromic 5:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Microphthalmia, Syndromic 5

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 178364Disease definitionSyndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.EpidemiologyLess than 20 cases have been reported in the literature so far.Clinical descriptionThe clinical picture is highly variable, even between affected members of the same family. Ocular findings ranged from bilateral anophthalmia, to severe or mild bi- or unilateral microphthalmia and retinal dystrophy. MRI may reveal optic nerve aplasia/hypoplasia, hippocampal malformations, structural abnormalities of the pituitary gland, and agenesis of the corpus callosum. Severe developmental delay was noted in some patients, whilst others showed normal cognitive development. Pituitary dysfunction, leading to growth hormone deficiency and short stature, or combined pituitary hormone deficiency (CPHD), has also been reported.EtiologyThe syndrome is caused by heterozygousmutations in the OTX2 gene (14q22.3).Differential diagnosisA similar phenotype with bilateral anophthalmia and pituitary abnormalities (with additional findings of limb defects, ear anomalies and facial dysmorphism) is found in patients carrying a deletion encompassing the OTX2 gene. Patients with the full clinical spectrum of ocular anomalies, central nervous system abnormalities and pituitary abnormalities also show significant overlap with septooptic dysplasia (see this term).Visit the Orphanet disease page for more resources.

MalaCards based summary : Microphthalmia, Syndromic 5, also known as mcops5, is related to microphthalmia. An important gene associated with Microphthalmia, Syndromic 5 is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include pituitary and eye, and related phenotypes are seizures and cataract

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 610125

Related Diseases for Microphthalmia, Syndromic 5

Diseases in the Microphthalmia, Syndromic 3 family:

Microphthalmia, Syndromic 2 Microphthalmia, Syndromic 13
Microphthalmia, Syndromic 4 Microphthalmia, Syndromic 1
Microphthalmia, Syndromic 9 Microphthalmia, Syndromic 8
Microphthalmia, Syndromic 6 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:

57
Head And Neck Eyes:
cataract
microcornea
retinal dystrophy
coloboma
microphthalmia, unilateral or bilateral
more
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)

GenitourinaryInternal GenitaliaMale:
cryptorchidism (rare)

Skeletal:
joint laxity

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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 cataract 32 HP:0000518
3 global developmental delay 32 HP:0001263
4 short stature 32 occasional (7.5%) HP:0004322
5 cleft palate 32 occasional (7.5%) HP:0000175
6 cryptorchidism 32 occasional (7.5%) HP:0000028
7 microphthalmia 32 HP:0000568
8 joint laxity 32 HP:0001388
9 microcornea 32 HP:0000482
10 micropenis 32 occasional (7.5%) HP:0000054
11 retinal dystrophy 32 HP:0000556
12 generalized hypotonia 32 HP:0001290
13 coloboma 32 HP:0000589
14 ectopic posterior pituitary 32 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 29 OTX2

Anatomical Context for Microphthalmia, Syndromic 5

MalaCards organs/tissues related to Microphthalmia, Syndromic 5:

41
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:

75
# 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 26)
# 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.463_464dupGC (p.Ser156Leufs) duplication Pathogenic rs786205873 GRCh37 Chromosome 14, 57268859: 57268860
3 OTX2 NM_172337.2(OTX2): c.265C> G (p.Arg89Gly) single nucleotide variant Pathogenic rs104894464 GRCh37 Chromosome 14, 57269058: 57269058
4 OTX2 NM_172337.2(OTX2): c.265C> G (p.Arg89Gly) single nucleotide variant Pathogenic rs104894464 GRCh38 Chromosome 14, 56802340: 56802340
5 OTX2 NM_172337.2(OTX2): c.81delC (p.Ser28Profs) deletion Pathogenic rs786205874 GRCh38 Chromosome 14, 56805376: 56805376
6 OTX2 NM_172337.2(OTX2): c.81delC (p.Ser28Profs) deletion Pathogenic rs786205874 GRCh37 Chromosome 14, 57272094: 57272094
7 OTX2 NM_172337.2(OTX2): c.537T> A (p.Tyr179Ter) single nucleotide variant Pathogenic rs104894465 GRCh37 Chromosome 14, 57268786: 57268786
8 OTX2 NM_172337.2(OTX2): c.537T> A (p.Tyr179Ter) single nucleotide variant Pathogenic rs104894465 GRCh38 Chromosome 14, 56802068: 56802068
9 OTX2 OTX2, 1-BP INS, 402C insertion Pathogenic
10 OTX2 OTX2, 2-BP INS, 576CT insertion Pathogenic
11 OTX2 NM_172337.2(OTX2): c.413C> G (p.Ser138Ter) single nucleotide variant Pathogenic rs786205879 GRCh37 Chromosome 14, 57268910: 57268910
12 OTX2 NM_172337.2(OTX2): c.413C> G (p.Ser138Ter) single nucleotide variant Pathogenic rs786205879 GRCh38 Chromosome 14, 56802192: 56802192
13 OTX2 OTX2, 16-BP DEL, NT221 deletion Pathogenic
14 OTX2 NM_172337.2(OTX2): c.562G> T (p.Gly188Ter) single nucleotide variant Pathogenic rs397514463 GRCh37 Chromosome 14, 57268761: 57268761
15 OTX2 NM_172337.2(OTX2): c.562G> T (p.Gly188Ter) single nucleotide variant Pathogenic rs397514463 GRCh38 Chromosome 14, 56802043: 56802043
16 OTX2 OTX2, ARG90SER single nucleotide variant Pathogenic
17 OTX2 NM_021728.3(OTX2): c.316delC (p.Gln106Asnfs) deletion Pathogenic rs786205884 GRCh38 Chromosome 14, 56802313: 56802313
18 OTX2 NM_021728.3(OTX2): c.316delC (p.Gln106Asnfs) deletion Pathogenic rs786205884 GRCh37 Chromosome 14, 57269031: 57269031
19 OTX2 NM_021728.3(OTX2): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs104894464 GRCh38 Chromosome 14, 56802340: 56802340
20 OTX2 NM_021728.3(OTX2): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs104894464 GRCh37 Chromosome 14, 57269058: 57269058
21 OTX2 NM_021728.3(OTX2): c.259G> A (p.Glu87Lys) single nucleotide variant Likely pathogenic rs786205224 GRCh37 Chromosome 14, 57270920: 57270920
22 OTX2 NM_021728.3(OTX2): c.259G> A (p.Glu87Lys) single nucleotide variant Likely pathogenic rs786205224 GRCh38 Chromosome 14, 56804202: 56804202
23 OTX2 NM_172337.2(OTX2): c.402delCinsCC (p.Ser135Leufs) indel Pathogenic GRCh37 Chromosome 14, 57268921: 57268921
24 OTX2 NM_172337.2(OTX2): c.402delCinsCC (p.Ser135Leufs) indel Pathogenic GRCh38 Chromosome 14, 56802203: 56802203
25 OTX2 NM_021728.3(OTX2): c.781_784delACCA (p.Thr261Leufs) deletion Pathogenic GRCh38 Chromosome 14, 56801845: 56801848
26 OTX2 NM_021728.3(OTX2): c.781_784delACCA (p.Thr261Leufs) deletion Pathogenic GRCh37 Chromosome 14, 57268563: 57268566

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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