Agnathia-Otocephaly Complex (AGOTC)

Alias:
Otocephaly
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Dysgnathia Complex Agnathia-Holoprosencephaly
Holoprosencephaly-Agnathia
Agotc
Dysgnathia Complex
Cervical Auricle
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Agnathia-Otocephaly Complex, also known as otocephaly, is related to microphthalmia, syndromic 5 and macs syndrome, 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 Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include eye and trachea, and related phenotypes are agenesis of corpus callosum and narrow mouth
Related ID:
MESH:C562503
ICD11:1403653959

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
--
27
220
16

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
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