MCOPCB7
MCID: MCR210
MIFTS: 19
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Microphthalmia, Isolated, with Coloboma 7 (MCOPCB7)
Categories:
Eye diseases, Genetic diseases
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MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 7:
Characteristics:HPO:32Classifications: |
UniProtKB/Swiss-Prot
:
75
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
Description from OMIM:
614497
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614497Human phenotypes related to Microphthalmia, Isolated, with Coloboma 7:32
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MalaCards organs/tissues related to Microphthalmia, Isolated, with Coloboma 7:41
Eye,
Retina
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UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated, with Coloboma 7:75
ClinVar genetic disease variations for Microphthalmia, Isolated, with Coloboma 7:6
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Search
GEO
for disease gene expression data for Microphthalmia, Isolated, with Coloboma 7.
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Cellular components related to Microphthalmia, Isolated, with Coloboma 7 according to GeneCards Suite gene sharing:
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