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adrenoleukodystrofia
Č. záznamu d000326 Dátum 06.06.2025 Typ M Tematický termín adrenoleukodystrofia Iný termín Angličtina (Pseudonym) Adrenomyeloneuropathy
Angličtina (Pseudonym) Schilder-Addison Complex
Angličtina (Pseudonym) X-Linked Adrenoleukodystrophy
Slovenčina (Pseudonym) adrenomyeloneuropatia
Slovenčina (Pseudonym) Schilderov-Addisonov komplex
Slovenčina (Pseudonym) adrenoleukodystrofia viazaná na X chromozóm
Slovenčina (Pseudonym) X-ALD
Pozri tiež (Skutočné meno) ATP-viažuce kazetové transportéry
(Novšie záhlavie) ATP-viažuce kazetové transportéry
MDT C10.228.140.163.100.084C10.228.140.163.100.362.250C10.228.140.695.625.250C10.314.400.250C10.597.606.360.455.124C16.320.322.500.124C16.320.400.525.124C16.320.565.189.084C16.320.565.189.362.250C16.320.565.663.100C18.452.132.100.084C18.452.132.100.362.250C18.452.648.189.084C18.452.648.189.362.250C18.452.648.663.100C19.053.500.270 Poznámka 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). 
predmetové heslo
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