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auriculocondylar syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

auriculocondylar syndrome 1

MONDO:0011234

Also known as:Auriculocondylar syndrome type 1GNAI3 auriculocondylar syndromeauriculocondylar syndrome caused by mutation in GNAI3

Overview

Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.

GeneticsAutosomal dominant · GNAI3 (chr 1)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Narrow mouth, Glossoptosis, Stenosis of the external auditory canal, and Micrognathia. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	6	Macrocephaly, Round face, Cleft at the superior portion of the pinna

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GNAI3 encodes G protein subunit alpha i3 (354 aa). Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. Highest expression in Cells Cultured fibroblasts (15.2 TPM) and Esophagus Mucosa (12.2 TPM).

Auriculocondylar syndrome 1 is associated with mutations in the GNAI3 gene on chromosome 1.

GNAI3 is classified as a druggable target (G Protein Coupled Receptor category) with score 0.0.

Diagnosis

Genetic testing for GNAI3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for auriculocondylar syndrome 1.

3 publications have been identified in PubMed for auriculocondylar syndrome 1. Research spans Case Report / Case Series (100%).

Recent Publications

Yadav M (2026). [PMID: 41124729](https://pubmed.ncbi.nlm.nih.gov/41124729/). *Eur J Radiol*. [Case Report / Case Series]
Lin Y (2025). [PMID: 38414442](https://pubmed.ncbi.nlm.nih.gov/38414442/). *Cleft Palate Craniofac J*. [Case Report / Case Series]
Shi Y (2024). [PMID: 39014351](https://pubmed.ncbi.nlm.nih.gov/39014351/). *BMC Oral Health*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602483

GARD

Genetic and Rare Diseases Info Center

GARD:15346

Questions for Your Care Team

→Should I pursue genetic testing for GNAI3, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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auriculocondylar syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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