エントリ 名称 Paul-Chao 神経発達症候群
概要 Paul-Chao neurodevelopmental syndrome (NEDPACH) is a rare syndrome characterized by developmental delay, intellectual disability, hypotonia, autism, and epilepsy. It has been reported that mutations in PPFIA3 cause this syndrome. PPFIA3 encodes the protein-tyrosine phosphatase, which is a member of the liprin family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly.
カテゴリ 先天奇形
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy 病因遺伝子 リンク 文献 著者 Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomme-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT
タイトル A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
雑誌 文献 著者 Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT
タイトル Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
雑誌 LinkDB All DBs
