Details of Disease

General Information of Disease (ID: DIS5C8TJ)

Disease Name Auriculocondylar syndrome 1
Synonyms
ARCND1; AURICULOCONDYLAR syndrome 1; question Mark ears syndrome; Auriculocondylar syndrome type 1; auriculocondylar syndrome caused by mutation in GNAI3; Auriculocondylar syndrome 1; GNAI3 auriculocondylar syndrome
Definition Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.
Disease Hierarchy
DISW3W1P: Auriculocondylar syndrome
DIS5C8TJ: Auriculocondylar syndrome 1
Disease Identifiers
MONDO ID
MONDO_0011234
MESH ID
C538270
UMLS CUI
C4551996
OMIM ID
602483
MedGen ID
1639644

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EDN1 TTJR60Z moderate Genetic Variation [1]
GNAI3 TT8QF3W moderate Biomarker [2]
EDN1 TTJR60Z Strong Autosomal recessive [3]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EDN1 OTZCACEG Strong Autosomal recessive [3]
PLCB4 OTPA0QHW Strong Autosomal dominant [4]
GNAI3 OT89UWAR Definitive Autosomal dominant [5]
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References

1 The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.Clin Genet. 2018 Feb;93(2):356-359. doi: 10.1111/cge.13046. Epub 2017 Sep 8.
2 GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism.PLoS One. 2016 Sep 8;11(9):e0162273. doi: 10.1371/journal.pone.0162273. eCollection 2016.
3 Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.
4 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
5 Transmission of the dysgnathia complex from mother to daughter. Am J Med Genet. 2000 Nov 27;95(3):269-74.