Agnathia-otocephaly complex

Preferred Label : Agnathia-otocephaly complex;

Symbol : AGOTC;

CISMeF acronym : AGOTC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dysgnathia complex agnathia-holoprosencephaly; HOLOPROSENCEPHALY-AGNATHIA; OTOCEPHALY;

Description : Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the paired-related homeobox gene 1 (PRRX1, 167420.0001);

Prefixed ID : #202650;

Details

Origin ID

202650;

UMLS CUI

C0265242;

Automatic exact mappings (from CISMeF team)
- Other branchial cleft malformations [ICD-10 Sub-category]
- Otocephaly [NCIt concept]
- Otocephaly [ICD-11 Category]
- PRRX1 wt Allele [NCIt concept]
CISMeF manual mappings
- Agnathia, holoprosencephaly, situs inversus syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Agnathia-holoprosencephaly-situs inversus syndrome [ORDO Disease]
- Auriculo-condylar syndrome (disorder) [SNOMED CT concept]
- Otocephalic syndrome (disorder) [SNOMED CT concept]
- Otocephaly [MedDRA Preferred Term]
- agnathia otocephaly complex [Disease (Nov.)]
- agnathia-otocephaly complex [DO Concept]
- dysgnathia complex [MeSH concept]
- dysgnathia complex [MeSH Supplementary Concept]
- otocephaly [MeSH concept]
- otocephaly [MeSH Supplementary Concept]
DO Cross reference
- agnathia-otocephaly complex [DO Concept]
Genes related to phenotype
- Paired-related homeobox gene 1 [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aglossia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Downslanted palpebral fissures [HPO term]
- Fetal onset [HPO term]
- Holoprosencephaly [HPO term]
- Hypoplasia of the epiglottis [HPO term]
- Laryngeal hypoplasia [HPO term]
- Low-set ears [HPO term]
- Mandibular aplasia [HPO term]
- Microglossia [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Polyhydramnios [HPO term]
- Pulmonary hypoplasia [HPO term]
- Respiratory distress [HPO term]
- Secundum atrial septal defect [HPO term]
- Situs inversus totalis [HPO term]
- Synotia [HPO term]
- Tracheomalacia [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Agnathia-holoprosencephaly-situs inversus syndrome [ORDO Disease]
See also inter- (CISMeF)
- auriculo-condylar syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Otocephalic syndrome (disorder) [SNOMED CT concept]
- Otocephaly [MedDRA Preferred Term]
- Otocephaly [NCIt concept]
- otocephalic syndrome [SNOMED Notion]
- otocephaly [MeSH concept]
- otocephaly [MeSH Supplementary Concept]

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