KEGG   DISEASE: Auriculocondylar syndrome
Entry
H01884                      Disease                                

Name
Auriculocondylar syndrome;
Question mark ears syndrome
Description
Auriculocondylar syndrome (ACS) is a rare craniofacial malformation syndrome characterized by mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular portion of the first pharyngeal arch. Mutations in the PLCB4 and GNAI3, predicted to function as signal transducers downstream of EDNRA, have recently been reported in ACS.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H01884  Auriculocondylar syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD25  Syndromes with face or limb anomalies as a major feature
    H01884  Auriculocondylar syndrome
Gene
GNAI3 [HSA:2773] [KO:K04630]
PLCB4 [HSA:5332] [KO:K05858]
EDN1 [HSA:1906] [KO:K16366]
Other DBs
ICD-11: LD25.3
ICD-10: Q75.8
MeSH: C538270
OMIM: 602483 614669 615706 612798
Reference
  Authors
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML
  Title
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
  Journal
Am J Hum Genet 90:907-14 (2012)
DOI:10.1016/j.ajhg.2012.04.002
Reference
  Authors
Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschke P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J
  Title
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
  Journal
Am J Hum Genet 93:1118-25 (2013)
DOI:10.1016/j.ajhg.2013.10.023
Reference
  Authors
Shkalim V, Eliaz N, Linder N, Merlob P, Basel-Vanagaite L
  Title
Autosomal dominant isolated question mark ear.
  Journal
Am J Med Genet A 146A:2280-3 (2008)
DOI:10.1002/ajmg.a.32452

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