エントリ 名称 新生児型副腎白質ジストロフィー
下位グループ 乳児レフスム病
上位グループ 概要 The neonatal form of adrenoleukodystrophy (NALD) and Infantile Refsum disease (IRD) are milder form of Zellweger syndrome spectrum (ZSS) disorders. They are caused by defects in one of PEX genes, which encode proteins involved in peroxisome assembly and proliferation. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment.
カテゴリ 先天性代謝異常症, ペルオキシソーム病
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy パスウェイ 病因遺伝子 コメント For Refsum disease, see [DS:
H00075 ]
リンク 文献 著者 Waterham HR, Ebberink MS
タイトル Genetics and molecular basis of human peroxisome biogenesis disorders.
雑誌 文献 著者 Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G
タイトル Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
雑誌 文献 著者 Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ
タイトル Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
雑誌 文献 著者 Gootjes J, Schmohl F, Waterham HR, Wanders RJ
タイトル Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
雑誌 文献 著者 Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schluter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Korver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR
タイトル Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
雑誌 文献 著者 Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A
タイトル Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.
雑誌 文献 著者 Blomqvist M, Ahlberg K, Lindgren J, Ferdinandusse S, Asin-Cayuela J
タイトル Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.
雑誌 文献 著者 Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y
タイトル Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
雑誌 文献 著者 Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S
タイトル Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
雑誌 文献 著者 van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ
タイトル Identification of PEX7 as the second gene involved in Refsum disease.
雑誌 文献 著者 Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders RJA, Ferdinandusse S, Waterham HR
タイトル Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.
雑誌 文献 著者 Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR
タイトル A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11beta gene.
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