Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, ABCD1

Reagents, Molecular Assay, Gene Anomaly, Mutation, ABCD1

Definition : Molecular assay reagents intended to identify mutations in the ATP-binding cassette, subfamily D, member 1 (ABCD1) gene, located at chromosome Xq28. X-linked recessive inherited genetic mutations have been identified in most patients with adrenoleukodystrophy, an early-onset (childhood to young adult) continuum spectrum of diseases affecting the nervous system white matter and the adrenal cortex. Three main diseases have been characterized in males: a childhood (onset at four to eight years of age is typical) "cerebral" form; a second form (adrenomyeloneuropathy [AMN]) with typical onset in the third decade of age; and a third form (Addison's disease) with variable (frequently in childhood) onset that may progress to AMN. Carrier females may develop milder late-onset neurological manifestations resembling AMN.

Entry Terms : "Addison Disease Gene Mutation Detection Reagents" , "Cerebral Adrenoleukodystrophy Gene Mutation Detection Reagents" , "Adrenomyeloneuropathy (AMN) Gene Mutation Detection Reagents" , "Adrenoleukodystrophy (X-ALD) Gene Mutation Detection Reagents" , "Adrenoleukodystrophy (ALD) Gene Mutation Detection Reagents" , "ABCD1 Gene Mutation Detection Reagents"

UMDC code : 24277

   

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