| H00177 | |
| H番号 | H00177 |
| 名称 | 新生児型副腎白質ジストロフィー |
| 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 |
| ネットワーク | - |
| 病因遺伝子 | (PBD1B) PEX1 [HSA:5189] [KO:K13338] (PBD2B) PEX5 [HSA:5830] [KO:K13342] (PBD3B) PEX12 [HSA:5193] [KO:K13345] (PBD4B) PEX6 [HSA:5190] [KO:K13339] (PBD5B) PEX2 [HSA:5828] [KO:K06664] (PBD6B) PEX10 [HSA:5192] [KO:K13346] (PBD7B) PEX26 [HSA:55670] [KO:K13340] (PBD8B) PEX16 [HSA:9409] [KO:K13335] (PBD9B) PEX7 [HSA:5191] [KO:K13341] (PBD10B) PEX3 [HSA:8504] [KO:K13336] (PBD14B) PEX11B [HSA:8799] [KO:K13352] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | For Refsum disease, see [DS:H00075] |
| リンク | ICD-11: 5A74.Y 5C57.0 ICD-10: E71.3 MeSH: D018901 OMIM: 601539 202370 266510 614863 614867 614871 614873 614877 614879 617370 614920 |
| 文献 | PMID:22871920 著者 Waterham HR, Ebberink MS タイトル Genetics and molecular basis of human peroxisome biogenesis disorders. 雑誌 Biochim Biophys Acta 1822:1430-41 (2012) DOI:10.1016/j.bbadis.2012.04.006 PMID:11389485 (PEX1) 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 Am J Hum Genet 69:35-48 (2001) DOI:10.1086/321265 PMID:7719337 (PEX5) 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 Nat Genet 9:115-25 (1995) DOI:10.1038/ng0295-115 PMID:14571262 (PEX12) 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 Eur J Hum Genet 12:115-20 (2004) DOI:10.1038/sj.ejhg.5201090 PMID:29220678 (PEX6) 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 Am J Hum Genet 101:965-976 (2017) DOI:10.1016/j.ajhg.2017.11.007 PMID:23430938 (PEX2) 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 JIMD Rep 6:43-6 (2012) DOI:10.1007/8904_2011_102 PMID:28784167 (PEX10) 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 J Med Case Rep 11:218 (2017) DOI:10.1186/s13256-017-1365-5 PMID:12851857 (PEX26) 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 Am J Hum Genet 73:233-46 (2003) DOI:10.1086/377004 PMID:20647552 (PEX16) 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 J Med Genet 47:608-15 (2010) DOI:10.1136/jmg.2009.074302 PMID:12522768 (PEX7) 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 Am J Hum Genet 72:471-7 (2003) DOI:10.1086/346093 PMID:27557811 (PEX3) 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 JIMD Rep 34:71-75 (2017) DOI:10.1007/8904_2016_10 PMID:22581968 (PEX11B) 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. 雑誌 J Med Genet 49:307-13 (2012) DOI:10.1136/jmedgenet-2012-100778 |