microphthalmia—syndromic 9

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microphthalmia—syndromic 92016-12-10T22:08:06+00:00

microphthalmia—syndromic 9 

OPHTHAMOLOGY

A rare clinically heterogeneous disorder (OMIM:601186) of eye formation characterised by anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia, variably accompanied by congenital heart disease–e.g., ventricular septal defect, overriding aorta, vestigial pulmonary artery.

Molecular pathology Defects in STRA6, which encodes a putative high-affinity cell-surface receptor for the retinol-retinol binding protein–RBP/RBP4 complex involved in retinol metabolism, cause microphthalmia—syndromic 9.

Synonyms Anophthalmia—clinical—with mild facial dysmorphism and variable malformations of the lung—hear—and diaphragm, anophthalmia/microphthalmia and pulmonary hypoplasia, anophthalmia/microphthalmia and pulmonary hypoplasia, Matthew-Wood syndrome, MCOPS9, pulmonary agenesis—microphthalmia—diaphragmatic defect, Spear syndrome

References http://www.uniprot.org/uniprot/Q9BX79 

http://www.omim.org/entry/601186

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