Disease

Agnathia-Otocephaly Complex

About the Disease
Agnathia-Otocephaly Complex, also known as otocephaly, is related to microphthalmia, syndromic 5 and holoprosencephaly 1, and has symptoms including respiratory distress An important gene associated with Agnathia-Otocephaly Complex is PRRX1 (Paired Related Homeobox 1), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include eye, brain and trachea, and related phenotypes are agenesis of corpus callosum and narrow mouth

Common Targets
PGAP1 | OTX2 | MSX1 | PRRX2 | PRRX1 | ALX4

疾病靶点研报
Agnathia-Otocephaly Complex

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