Microphthalmia, Syndromic 5

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OMIM 57 610125 Orphanet 59 ORPHA178364 ICD10 via Orphanet 34 Q11.2 UMLS via Orphanet 74 C1864690

MedGen 42 C1864690 C3149814 MeSH 44 D008850 D058499 SNOMED-CT via HPO 69 263681008 204878001 34911001 63567004 87979003 26098002 128306009 193570009 247053007 314407005 204108000 61142002 92828000 93390002 128613002 246545002 313307000 84757009 91175000 224958001 27911000 298203008 237836003 715727009 more UMLS 73 C1864690

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

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.