KEGG DISEASE: Neonatal adrenoleukodystrophy

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

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

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

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