KEGG   DISEASE: Neonatal adrenoleukodystrophy
Entry
H00177                      Disease                                
Name
Neonatal adrenoleukodystrophy
  Subgroup
Infantile Refsum disease
  Supergrp
Peroxisome biogenesis disorder [DS:H00205]
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
Congenital disorders of metabolism; Peroxisomal disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Peroxisomal diseases
   H00177  Neonatal adrenoleukodystrophy
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the adrenal glands or adrenal hormone system
    5A74  Adrenocortical insufficiency
     H00177  Neonatal adrenoleukodystrophy
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H00177  Neonatal adrenoleukodystrophy
Related
pathway
hsa04146  Peroxisome
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]
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
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
LinkDB

» Japanese version

DBGET integrated database retrieval system