Microphthalmia, Syndromic 5 (MCOPS5)

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Disease Ontology 12 DOID:0111806 OMIM 56 610125 OMIM Phenotypic Series 56 PS309800 MeSH 43 C566441 D008850 D058499 ICD10 via Orphanet 33 Q11.2

UMLS via Orphanet 72 C1864690 Orphanet 58 ORPHA178364 MedGen 41 C1864690 C3149814 SNOMED-CT via HPO 68 128306009 128613002 193570009 204099004 204108000 204878001 224958001 237836003 246545002 247053007 26098002 263681008 27911000 298203008 313307000 314407005 34911001 61142002 63567004 715727009 7183006 84757009 87979003 91175000 92828000 93390002 95499004 more UMLS 71 C1864690

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 178364 Definition Syndromic 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. Epidemiology Less than 20 cases have been reported in the literature so far. Clinical description The 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. Etiology The syndrome is caused by heterozygous mutations in the OTX2 gene (14q22.3). Differential diagnosis A 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 syndromic microphthalmia type 5, is related to coloboma of macula and fryns microphthalmia syndrome. An important gene associated with Microphthalmia, Syndromic 5 is OTX2 (Orthodenticle Homeobox 2). Affiliated tissues include pituitary and eye, and related phenotypes are short stature and cleft palate

Disease Ontology : ¹² A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has material basis in heterozygous mutation in OTX2 on chromosome 14q22.3.

UniProtKB/Swiss-Prot : ⁷³ 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 pituitary dysfunction.

More information from OMIM: 610125 PS309800

Clinical features from OMIM:

610125

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

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