Details of Disease

General Information of Disease (ID: DISFA33B)

Disease Name Agnathia-otocephaly complex
Synonyms
Dysgnathia Complex agnathia-holoprosencephaly; AGOTC; agnathia-holoprosencephaly; dysgnathia complex agnathia-holoprosencephaly; otocephaly; holoprosencephaly-agnathia; agnathia-otocephaly complex; agnathia-holoprosencephaly-situs inversus syndrome
Definition
Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Disease Hierarchy
DISYKSRF: Genetic disease
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISFA33B: Agnathia-otocephaly complex
Disease Identifiers
MONDO ID
MONDO_0008740
MESH ID
C562503
UMLS CUI
C0265242
OMIM ID
202650
MedGen ID
78541
Orphanet ID
990
SNOMED CT ID
48180002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRRX1 OTTZK5G8 Supportive Autosomal dominant [1]
OTX2 OTTV05B1 Strong Genetic Variation [2]
------------------------------------------------------------------------------------

References

1 PRRX1 is mutated in a fetus with agnathia-otocephaly. Clin Genet. 2011 Mar;79(3):293-5. doi: 10.1111/j.1399-0004.2010.01531.x.
2 Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.J Hum Genet. 2015 Apr;60(4):199-202. doi: 10.1038/jhg.2014.122. Epub 2015 Jan 15.