Auriculocondylar Syndrome 1 (ARCND1)

Alias:
Question Mark Ears Syndrome
Dysgnathia Complex
Arcnd1
Stomatognathic System Abnormalities
Auriculocondylar Syndrome, Type 1
Auriculo-Condylar Syndrome
Acs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Auriculocondylar Syndrome 1, also known as question mark ears syndrome, is related to ankylosis and auriculocondylar syndrome, and has symptoms including apnea and snoring. An important gene associated with Auriculocondylar Syndrome 1 is GNAI3 (G Protein Subunit Alpha I3), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and CCR5 Pathway in Macrophages. Affiliated tissues include skin, and related phenotypes are micrognathia and narrow mouth
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Basic Information

Inheritance
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Prevalence
Related Gene
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Reference
MALACARDS
AD
Unknown
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2
18
17

Medical Symptom

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Gene & Mutation

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References Literature

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