eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | adrenoleukodystrophy |
| Comorbidity | C1527231|adrenomyeloneuropathy |
| Sentences | 3 |
| PubMedID- 22458306 | Abcd1 knockout mice, a model for the adrenomyeloneuropathy (amn) form of x-linked adrenoleukodystrophy (x-ald), cannot transport a subset of substrates over the peroxisomal membrane, presumably saturated and/or unsaturated very long chain fatty acid coa esters. |
| PubMedID- 22934023 | Abcd1, adenosine triphosphate-binding cassette transporter superfamily d1 member; ad, alzheimer’s disease; als, amyotrophic lateral sclerosis; amn, adrenomyeloneuropathy form of x-linked adrenoleukodystrophy; app, amyloid-β precursor protein; as, angelman syndrome; atxn, ataxin; cag, cytosine-adenine-guanine; ccald, childhood cerebral form of x-linked adrenoleukodystrophy; cmt, charcot marie tooth; cns, central nervous system; da, dopaminergic; ds, down syndrome; ebs, embryoid bodies; escs, embryonic stem cells; fd, familial dysautonomia; fmr1, fragile x mental retardation; frda, friedreich’s ataxia; fxd, fragile x syndrome; fxn, frataxin; hd, huntington’s disease; hprt, hypoxanthine-guanine phosphoribosyltransferase; htt, huntingtin; ipscs, induced pluripotent stem cells; lrrk2, leucine-rich repeat kinase 2; mecp2, methyl cpg-binding protein 2; mjd, machado–joseph disease; npcs, neural progenitor cells; nscs, neural stem cells; oat, ornithine-δ-aminotransferase; pd, parkinson’s disease; pgd, pre-implantation genetic diagnosis; pink1, pten-induced putative kinase 1; ps1 and ps2, presenilin 1 and presenilin 2; pscs, pluripotent stem cells; pws, prader–willi syndrome; rtt, rett syndrome; sczd, schizophrenia; sma, spinal muscular atrophy; smn1, survival motor neuron-1; sod, superoxide dismutase; vapb, vamp-associated protein b; vlcfa, very long chain fatty acid; x-ald-ipsc, x-linked adrenoleukodystrophy. |
| PubMedID- 24020038 | adrenomyeloneuropathy (amn), one of the variants of x-linked adrenoleukodystrophy (ald), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (vlcfa). |
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