Biomaterial Database

[Adrenoleukodystrophy, adrenomyeloneuropathy]. 2006

Tohru Yorifuji

Department of Pediatrics, Kyoto University Graduate School of Medicine.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D004338	Drug Combinations	Single preparations containing two or more active agents, for the purpose of their concurrent administration as a fixed dose mixture.	Drug Combination,Combination, Drug,Combinations, Drug
D004883	Erucic Acids	cis-13-Docosenoic Acids. 22-Carbon monounsaturated, monocarboxylic acids.	Docosenoic Acids,Brassidic Acids,Acids, Brassidic,Acids, Docosenoic,Acids, Erucic
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000074063	ATP Binding Cassette Transporter, Subfamily D, Member 1	ATP-binding cassette transporter that functions in the import of long chain (13-21 carbons) and very long chain fatty acids (> 22 carbons), or their acyl-CoA-derivatives, into PEROXISOMES. Mutations in the ABCD1 gene are associated with the X-linked form of ADRENOLEUKODYSTROPHY.	ABCD1 Protein,ABCD1 Transporter,ATP Binding Cassette Transporter, Sub-Family D, Member 1,Adrenoleukodystrophy Protein
D000326	Adrenoleukodystrophy	An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the LYSOSOMES of ADRENAL CORTEX and the white matter of CENTRAL NERVOUS SYSTEM. This disease occurs almost exclusively in the males. Clinical features include the childhood onset of ATAXIA; NEUROBEHAVIORAL MANIFESTATIONS; HYPERPIGMENTATION; ADRENAL INSUFFICIENCY; SEIZURES; MUSCLE SPASTICITY; and DEMENTIA. The slowly progressive adult form is called adrenomyeloneuropathy. The defective gene ABCD1 is located at Xq28, and encodes the adrenoleukodystrophy protein (ATP-BINDING CASSETTE TRANSPORTERS).	Adrenomyeloneuropathy,Schilder-Addison Complex,X-Linked Adrenoleukodystrophy,ALD (Adrenoleukodystrophy),Addison Disease and Cerebral Sclerosis,Bronze Schilder Disease,Melanodermic Leukodystrophy,Siemerling-Creutzfeldt Disease,X-ALD,X-ALD (X-Linked Adrenoleukodystrophy),Adrenoleukodystrophy, X-Linked,Leukodystrophies, Melanodermic,Leukodystrophy, Melanodermic,Schilder Addison Complex,Siemerling Creutzfeldt Disease,X ALD,X ALD (X Linked Adrenoleukodystrophy),X Linked Adrenoleukodystrophy
D014304	Triolein	(Z)-9-Octadecenoic acid 1,2,3-propanetriyl ester.	Glycerol Trioleate,Trielaidin,Trioleate-Glycerin,Trioleoylglycerol,Trioleyl Glycerol,Glycerol, Trioleyl,Trioleate Glycerin,Trioleate, Glycerol
D016026	Bone Marrow Transplantation	The transference of BONE MARROW from one human or animal to another for a variety of purposes including HEMATOPOIETIC STEM CELL TRANSPLANTATION or MESENCHYMAL STEM CELL TRANSPLANTATION.	Bone Marrow Cell Transplantation,Grafting, Bone Marrow,Transplantation, Bone Marrow,Transplantation, Bone Marrow Cell,Bone Marrow Grafting
D018528	ATP-Binding Cassette Transporters	A family of MEMBRANE TRANSPORT PROTEINS that require ATP hydrolysis for the transport of substrates across membranes. The protein family derives its name from the ATP-binding domain found on the protein.	ABC Transporter,ABC Transporters,ATP-Binding Cassette Transporter,ATP Binding Cassette Transporter,ATP Binding Cassette Transporters,Cassette Transporter, ATP-Binding,Transporter, ABC,Transporter, ATP-Binding Cassette,Transporters, ABC,Transporters, ATP-Binding Cassette