Disease #02143

Official abbreviation ALD
Name adrenoleukodystrophy (ALD)
OMIM ID 300100
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 39
Phenotype entries for this disease 39
Associated with 1 gene ABCD1
Associated tissues -
Disease features -
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Individuals

39 entries on 1 page. Showing entries 1 - 39.
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00052135 - PubMed: Matsumoto 2005, Journal: Matsumoto 2005 - M - Japan - - 0 - - ALD born 40w gestation, birth weight 3198g; 1y-normal developmental milestones; walk-12m; 3y-speak two-word sentences; developed convulsions several times since age 2y; 39m-admitted to hospital, normal height/weight/physical examinations, ECG spikes and spike-and-waves left occicipital region; MRI brain FLAIR-method high signal intensity areas both occicipital regions, small high-signal-intensity areas scattered in anterior/temporal parts cerebrum; motor and sensory nerve conduction velocity normal; ... ABCD1, PLXNB3 ABCD1, PLXNB3 1 1 Johan den Dunnen
00052348 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - >29y 0 - - ALD adolescent adrenoleukodystrophy (AALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052349 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - 13y 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD), died after clinical course of 4y; increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052350 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - 09y 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD), died after clinical course of 1.5y; increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052352 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 1 affected boy M no Viet Nam - - 0 - - ALD boy died of childhood cerebral ALD (CCALD) ABCD1 ABCD1 1 1 Johan den Dunnen
00052353 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 1 affected boy, 2 unaffected heterozygous carriers M no Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN) ABCD1 ABCD1 1 1 Johan den Dunnen
00052354 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 2 affected boys, 1 unaffected heterozygous carrier M no Netherlands - - 0 - - ALD both patients have adrenomyeloneuropathy (AMN) ABCD1 ABCD1 1 2 Johan den Dunnen
00052355 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 2 affected boys M no Germany - - 0 - - ALD childhood cerebral ALD (CCALD) and young symptomatic ABCD1 ABCD1 1 2 Johan den Dunnen
00052356 - PubMed: Kemp 1994, Journal: Kemp 1994 family, 2 affected boys M no Netherlands - - 0 - - ALD both patients have adrenomyeloneuropathy (AMN) ABCD1 ABCD1 1 2 Johan den Dunnen
00052378 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052379 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052380 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052381 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052382 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052383 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052384 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052385 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052386 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052387 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052388 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052389 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052390 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052391 - PubMed: Mosser 1994, Journal: Mosser 1994 heterozygous carrier mother, no patient material available F - Netherlands - - 0 - - ALD symptomatic carrier; increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052392 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052393 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052394 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052395 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052396 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052397 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052398 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052399 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052400 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052401 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052402 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052403 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052404 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052405 - PubMed: Mosser 1994, Journal: Mosser 1994 - M - Netherlands - - 0 - - ALD childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA) ABCD1 ABCD1 1 1 Johan den Dunnen
00052408 - PubMed: Jiang 2015, Journal: Jiang 2015 2-generation family, 2 male sibs (Pat18/19), unaffected heterozygous mother (VLCFA 0.89) M - China - >04y06m 0 - - ALD childhood cerebral adrenoleukodystrophy (CCALD), hyperpigmentation; VLCFA 5.6 (<0.89), ACTH 221 (1-10); MRI-dilation cerebral ventricles ABCD1 ABCD1 1 2 Johan den Dunnen
00052409 - PubMed: Jiang 2015, Journal: Jiang 2015 2-generation family, 2nd sib M - China - >02y03m 0 - - ALD Addison only (AO), hematopoietic stem cell transplantation, hyperpigmentation; VLCFA 5.84 (<0.89), ACTH 110 (1-10); MRI-no white matter lesions ABCD1 ABCD1 1 1 Johan den Dunnen
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