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Adrenomyeloneuropathy(AMN)

MedGen UID:
315918
Concept ID:
C1527231
Disease or Syndrome
Synonyms: ADRENOMYELONEUROPATHY; AMN
SNOMED CT: AMN - adrenomyeloneuropathy (1269423000); Adult onset adrenoleukodystrophy (1269423000); Adrenomyeloneuropathy (1269423000)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0015339
OMIM®: 300100; 300371
Orphanet: ORPHA139399

Definition

A form of the peroxisomal disease X-linked adrenoleukodystrophy, characterized by progressive myelopathy and peripheral neuropathy, and often associated with peripheral adrenal insufficiency in males. Onset is typically in adulthood. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Adrenomyeloneuropathy in Orphanet.

Professional guidelines

PubMed

Pierpont EI, Isaia AR, McCoy E, Brown SJ, Gupta AO, Eisengart JB
J Inherit Metab Dis 2023 Mar;46(2):174-193. Epub 2022 Dec 26 doi: 10.1002/jimd.12581. PMID: 36527290Free PMC Article
Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q
Biomed Pharmacother 2021 Nov;143:112214. Epub 2021 Sep 21 doi: 10.1016/j.biopha.2021.112214. PMID: 34560537
Berger J, Pujol A, Aubourg P, Forss-Petter S
Brain Pathol 2010 Jul;20(4):845-56. doi: 10.1111/j.1750-3639.2010.00393.x. PMID: 20626746Free PMC Article

Recent clinical studies

Etiology

Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Winkelman JW, Grant NR, Molay F, Stephen CD, Sadjadi R, Eichler FS
Sleep Med 2022 Mar;91:31-34. Epub 2022 Feb 16 doi: 10.1016/j.sleep.2022.02.008. PMID: 35245789Free PMC Article
Keller JL, Eloyan A, Raymond GV, Fatemi A, Zackowski KM
J Inherit Metab Dis 2022 Mar;45(2):308-317. Epub 2021 Dec 9 doi: 10.1002/jimd.12457. PMID: 34796974Free PMC Article
Corre CS, Grant N, Sadjadi R, Hayden D, Becker C, Gomery P, Eichler FS
Orphanet J Rare Dis 2021 Jan 6;16(1):14. doi: 10.1186/s13023-020-01596-1. PMID: 33407709Free PMC Article
Poll-The BT, Gärtner J
Biochim Biophys Acta 2012 Sep;1822(9):1421-9. Epub 2012 Mar 28 doi: 10.1016/j.bbadis.2012.03.011. PMID: 22483868

Diagnosis

Misra S, Ramesh R, Ramu ChS, Srirangalaxmi G, Radhakrishn H, Vajresware
J Assoc Physicians India 2012 Jul;60:58-61. PMID: 23405547
Maas JW Jr
Semin Neurol 2012 Apr;32(2):114-22. Epub 2012 Sep 8 doi: 10.1055/s-0032-1322581. PMID: 22961186
Moser HW, Mahmood A, Raymond GV
Nat Clin Pract Neurol 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. PMID: 17342190
Moser HW, Naidu S, Kumar AJ, Rosenbaum AE
Crit Rev Neurobiol 1987;3(1):29-88. PMID: 3552451
Lenard HG
Neuropediatrics 1984 Sep;15 Suppl:16-9. doi: 10.1055/s-2008-1052375. PMID: 6100794

Therapy

Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Misra S, Ramesh R, Ramu ChS, Srirangalaxmi G, Radhakrishn H, Vajresware
J Assoc Physicians India 2012 Jul;60:58-61. PMID: 23405547
Moser HW, Mahmood A, Raymond GV
Nat Clin Pract Neurol 2007 Mar;3(3):140-51. doi: 10.1038/ncpneuro0421. PMID: 17342190
Moser H, Dubey P, Fatemi A
Curr Opin Neurol 2004 Jun;17(3):263-9. doi: 10.1097/00019052-200406000-00005. PMID: 15167059
Moser HW
J Neuropathol Exp Neurol 1995 Sep;54(5):740-5. doi: 10.1097/00005072-199509000-00017. PMID: 7666063

Prognosis

Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q
Biomed Pharmacother 2021 Nov;143:112214. Epub 2021 Sep 21 doi: 10.1016/j.biopha.2021.112214. PMID: 34560537
Misra S, Ramesh R, Ramu ChS, Srirangalaxmi G, Radhakrishn H, Vajresware
J Assoc Physicians India 2012 Jul;60:58-61. PMID: 23405547
Poll-The BT, Engelen M
Semin Neurol 2012 Feb;32(1):42-50. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306385. PMID: 22422205
Kumar N
Semin Neurol 2010 Feb;30(1):38-43. Epub 2010 Feb 1 doi: 10.1055/s-0029-1244993. PMID: 20127580
Moser HW, Moser AB, Naidu S, Bergin A
Dev Neurosci 1991;13(4-5):254-61. doi: 10.1159/000112170. PMID: 1817030

Clinical prediction guides

Cappa M, Todisco T, Bizzarri C
Front Endocrinol (Lausanne) 2023;14:1309053. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1309053. PMID: 38034003Free PMC Article
Ma CY, Li C, Zhou X, Zhang Z, Jiang H, Liu H, Chen HJ, Tse HF, Liao C, Lian Q
Biomed Pharmacother 2021 Nov;143:112214. Epub 2021 Sep 21 doi: 10.1016/j.biopha.2021.112214. PMID: 34560537
Kumar N
Semin Neurol 2010 Feb;30(1):38-43. Epub 2010 Feb 1 doi: 10.1055/s-0029-1244993. PMID: 20127580
Moser HW, Naidu S, Kumar AJ, Rosenbaum AE
Crit Rev Neurobiol 1987;3(1):29-88. PMID: 3552451
Lenard HG
Neuropediatrics 1984 Sep;15 Suppl:16-9. doi: 10.1055/s-2008-1052375. PMID: 6100794

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