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MIRAGE
adrenoleukodystrophy

Summary
Synonym
  • ALD
  • Bronze Schilder disease
  • Encephalitis periaxialis concentrica
  • Encephalitis periaxialis, Schilder's
  • Siemerling-Creutzfeldt Disease
  • X-linked adrenoleukodystrophy
  • diffuse sclerosis
  • sudanophilic cerebral sclerosis
Definition
A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.
Super Class
X-linked recessive disease leukodystrophy
Disease Ontology
DOID:10588
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
11666 Abcd1 ATP-binding cassette, sub-family D member 1
17390 Mmp2 matrix metallopeptidase 2
17395 Mmp9 matrix metallopeptidase 9
19299 Abcd3 ATP-binding cassette, sub-family D member 3
21857 Timp1 tissue inhibitor of metalloproteinase 1
26874 Abcd2 ATP-binding cassette, sub-family D member 2
Displaying all 6 entries
Gene ID Gene Symbol Description Source
25270 Abcd3 ATP binding cassette subfamily D member 3
81686 Mmp2 matrix metallopeptidase 2
81687 Mmp9 matrix metallopeptidase 9
84356 Abcd2 ATP binding cassette subfamily D member 2
116510 Timp1 TIMP metallopeptidase inhibitor 1
363516 Abcd1 ATP binding cassette subfamily D member 1
Displaying all 4 entries
Gene ID Gene Symbol Description Source
178748 zmp-3 Matrix metalloproteinase-C
179197 cri-2 Putative metalloproteinase inhibitor tag-225
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180351 W01F3.2 Uncharacterized protein
Displaying all 4 entries
Gene ID Gene Symbol Description Source
850400 ELO2 fatty acid elongase ELO2
851087 ELO3 fatty acid elongase ELO3
853647 PXA2 ATP-binding cassette long-chain fatty acid transporter PXA2
855956 PXA1 ATP-binding cassette long-chain fatty acid transporter PXA1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 103 in total
HPO ID HPO Term
HP:0000012 Urinary urgency
HP:0000016 Urinary retention
HP:0000020 Urinary incontinence
HP:0000026 Male hypogonadism
HP:0000317 Facial myokymia
HP:0000365 Hearing impairment
HP:0000618 Blindness
HP:0000657 Oculomotor apraxia
HP:0000708 Atypical behavior
HP:0000736 Short attention span
Displaying 1 entry
Gene ID Gene Symbol Description
215 ABCD1 ATP binding cassette subfamily D member 1
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025