DISEASE: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Entry
H02641 Disease
Name
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Description
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) is a condition characterized by multiple congenital abnormalities, which have been associated with mutations in the PPP3CA gene. This gene encodes the alpha isoform of the calcineurin catalytic subunit and mutations are associated with the auto-inhibitory (AI) domain.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02641 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06528 Calcium signaling
H02641 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N
Title
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
