Details of Disease

Disease Name

Adrenomyeloneuropathy

AMN; adrenomyeloneuropathy

Definition

An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN.

Disease Hierarchy

DISSYRHC: Hereditary peripheral neuropathy

DISTUD1F: Adrenoleukodystrophy

DISPTS3P: Adrenomyeloneuropathy

Disease Identifiers

MONDO ID

MONDO_0015339

MESH ID

D000326

UMLS CUI

C1527231

MedGen ID

315918

Orphanet ID

139399

SNOMED CT ID

1269423000

General Information of Disease (ID: DISPTS3P)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLA2R1	TTHKW7D	Limited	Biomarker	[1]
DMPK	TTZQTY2	Strong	Genetic Variation	[2]
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This Disease Is Related to 5 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD1	DTKM9DZ	Supportive	X-linked	[3]
ABCD2	DT4MBHD	Strong	Biomarker	[4]
ABCD3	DTGLZO4	Strong	Biomarker	[4]
ABCD4	DTI8AFW	Strong	Biomarker	[4]
SLC27A2	DTXK9WA	Definitive	Biomarker	[4]
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This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ELOVL1	OTIDTQ8R	Limited	Biomarker	[5]
ABCD1	OT3FL9W0	Supportive	X-linked	[3]
GPAT2	OTZ8VP2Y	moderate	Altered Expression	[6]
MBOAT2	OTZI3BXD	moderate	Altered Expression	[6]
AMN	OTS1TJXG	Strong	Biomarker	[7]
PEX13	OTXUAYEW	Strong	Biomarker	[8]
PEX26	OT5AM0BM	Definitive	Biomarker	[9]
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⏷ Show the Full List of 7 DOT(s)

References

1	Clinicopathological features of atypical membranous nephropathy with unknown etiology in adult Chinese patients.Medicine (Baltimore). 2018 Aug;97(32):e11608. doi: 10.1097/MD.0000000000011608.
2	Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.Arch Neurol. 2006 Jan;63(1):112-7. doi: 10.1001/archneur.63.1.112.
3	X-Linked Adrenoleukodystrophy. 1999 Mar 26 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
4	Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.Hum Mol Genet. 2005 May 15;14(10):1293-303. doi: 10.1093/hmg/ddi140. Epub 2005 Mar 30.
5	MicroRNA Profiling Identifies miR-196a as Differentially Expressed in Childhood Adrenoleukodystrophy and Adult Adrenomyeloneuropathy.Mol Neurobiol. 2017 Mar;54(2):1392-1403. doi: 10.1007/s12035-016-9746-0. Epub 2016 Feb 3.
6	Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy.Biochem Biophys Res Commun. 2019 Jan 8;508(2):563-569. doi: 10.1016/j.bbrc.2018.11.123. Epub 2018 Nov 30.
7	Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.Biochim Biophys Acta. 2015 Feb;1851(2):231-7. doi: 10.1016/j.bbalip.2014.12.005. Epub 2014 Dec 11.
8	PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.Am J Hum Genet. 1999 Sep;65(3):621-34. doi: 10.1086/302534.
9	Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet. 2003 Aug;73(2):233-46. doi: 10.1086/377004. Epub 2003 Jul 8.