| H00177 | |
| H number | H00177 |
| Name | Neonatal adrenoleukodystrophy |
| Description | 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. |
| Category | Inherited metabolic disorder, Peroxisomal disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | For Refsum disease, see [DS:H00075] |
| Other DBs | ICD-11: 5A74.Y 5C57.0 ICD-10: E71.3 MeSH: D018901 OMIM: 601539 202370 266510 614863 614867 614871 614873 614877 614879 617370 614920 |
| Reference | PMID:22871920 AUTHORS Waterham HR, Ebberink MS TITLE Genetics and molecular basis of human peroxisome biogenesis disorders. JOURNAL Biochim Biophys Acta 1822:1430-41 (2012) DOI:10.1016/j.bbadis.2012.04.006 PMID:11389485 (PEX1) AUTHORS Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G TITLE Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. JOURNAL Am J Hum Genet 69:35-48 (2001) DOI:10.1086/321265 PMID:7719337 (PEX5) AUTHORS Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ TITLE Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. JOURNAL Nat Genet 9:115-25 (1995) DOI:10.1038/ng0295-115 PMID:14571262 (PEX12) AUTHORS Gootjes J, Schmohl F, Waterham HR, Wanders RJ TITLE Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. JOURNAL Eur J Hum Genet 12:115-20 (2004) DOI:10.1038/sj.ejhg.5201090 PMID:29220678 (PEX6) AUTHORS 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 TITLE Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. JOURNAL Am J Hum Genet 101:965-976 (2017) DOI:10.1016/j.ajhg.2017.11.007 PMID:23430938 (PEX2) AUTHORS Mignarri A, Vinciguerra C, Giorgio A, Ferdinandusse S, Waterham H, Wanders R, Bertini E, Dotti MT, Federico A TITLE Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations. JOURNAL JIMD Rep 6:43-6 (2012) DOI:10.1007/8904_2011_102 PMID:28784167 (PEX10) AUTHORS Blomqvist M, Ahlberg K, Lindgren J, Ferdinandusse S, Asin-Cayuela J TITLE Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report. JOURNAL J Med Case Rep 11:218 (2017) DOI:10.1186/s13256-017-1365-5 PMID:12851857 (PEX26) AUTHORS Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y TITLE Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. JOURNAL Am J Hum Genet 73:233-46 (2003) DOI:10.1086/377004 PMID:20647552 (PEX16) AUTHORS 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 TITLE Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. JOURNAL J Med Genet 47:608-15 (2010) DOI:10.1136/jmg.2009.074302 PMID:12522768 (PEX7) AUTHORS van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ TITLE Identification of PEX7 as the second gene involved in Refsum disease. JOURNAL Am J Hum Genet 72:471-7 (2003) DOI:10.1086/346093 PMID:27557811 (PEX3) AUTHORS Maxit C, Denzler I, Marchione D, Agosta G, Koster J, Wanders RJA, Ferdinandusse S, Waterham HR TITLE Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. JOURNAL JIMD Rep 34:71-75 (2017) DOI:10.1007/8904_2016_10 PMID:22581968 (PEX11B) AUTHORS Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR TITLE A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11beta gene. JOURNAL J Med Genet 49:307-13 (2012) DOI:10.1136/jmedgenet-2012-100778 |