Auriculocondylar syndrome 1

Preferred Label : Auriculocondylar syndrome 1;

Symbol : ARCND1;

CISMeF acronym : ARCND1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Question mark ears syndrome;

Description : Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and second pharyngeal arches and is characterized by malformed ears (question mark ears), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia (summary by Masotti et al., 2008). - Genetic Heterogeneity of Auriculocondylar Syndrome Auriculocondylar syndrome-2 (ARCND2; 614669) is caused by mutation in the PLCB4 gene (600810) on chromosome 20p12.3-p12.2. See also 612798 for isolated question mark ears.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein (G-protein), alpha-inhibiting activity polypeptide-3 gene (GNAI3, 139370.0001]);

Prefixed ID : #602483;

Détails

Origin ID

602483;

UMLS CUI

C4551996;

Currated CISMeF NLP mapping
- Auriculo-condylar syndrome [MeSH concept]
- Auriculo-condylar syndrome (disorder) [SNOMED CT concept]
- auriculo-condylar syndrome [MeSH Supplementary Concept]
- auriculocondylar syndrome [Disease (Nov.)]
Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-inhibiting activity polypeptide 3 [OMIM gene]
HPO term(s)
- Ankylosis [HPO term]
- Anterior open-bite malocclusion [HPO term]
- Apnea [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft at the superior portion of the pinna [HPO term]
- Cleft palate [HPO term]
- Cupped ear [HPO term]
- Dental crowding [HPO term]
- Dental malocclusion [HPO term]
- Glossoptosis [HPO term]
- Hypoplastic superior helix [HPO term]
- Impaired mastication [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mandibular condyle aplasia [HPO term]
- Mandibular condyle hypoplasia [HPO term]
- Micrognathia [HPO term]
- Narrow mouth [HPO term]
- Overfolding of the superior helices [HPO term]
- Postauricular skin tag [HPO term]
- Posteriorly rotated ears [HPO term]
- Preauricular skin tag [HPO term]
- Round face [HPO term]
- Snoring [HPO term]
- Speech articulation difficulties [HPO term]
- Stenosis of the external auditory canal [HPO term]
ORDO concept(s)
- Auriculocondylar syndrome [ORDO Disease]
See also inter- (CISMeF)
- GNAI3 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Auriculo-condylar syndrome [MeSH concept]
- Auriculo-condylar syndrome (disorder) [SNOMED CT concept]
- Auriculocondylar syndrome [ORDO Disease]
- auriculo-condylar syndrome [MeSH Supplementary Concept]
- auriculocondylar syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Auriculocondylar syndrome [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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