Microphthalmia, Isolated, with Coloboma 7 (MCOPCB7)

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OMIM® 57 614497 OMIM Phenotypic Series 57 PS300345 MeSH 44 D003103 D008850

MedGen 41 C3281027 SNOMED-CT via HPO 68 204108000 263681008 61142002 92828000 93390002 more UMLS 70 C3281027

UniProtKB/Swiss-Prot : ⁷² Microphthalmia, isolated, with coloboma, 7: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 7, is also known as mcopcb7. An important gene associated with Microphthalmia, Isolated, with Coloboma 7 is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)). Affiliated tissues include eye and retina, and related phenotypes are microphthalmia and coloboma

More information from OMIM: 614497 PS300345

Clinical features from OMIM®:

614497 (Updated 05-Apr-2021)

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