All individuals with variants in gene ABCD1

62 entries on 1 page. Showing entries 1 - 62.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 8 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 21 1 Yu Sun
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; ... 1 1 Johan den Dunnen
00052346 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, heterozygous carrier mother (5 affected sons) F no Austria - - 0 - - ? slowly developing spastic paraparesis, increased levels of very long chain fatty acids (VLCFA) 1 1 Johan den Dunnen
00052347 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - >32y 0 - - ? adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA) 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) 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) 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) 1 1 Johan den Dunnen
00052351 - PubMed: Berger 1994, Journal: Berger 1994 2-generation family, son M no Austria - >20y 0 - - ? Addison disease (ADD), increased levels of very long chain fatty acids (VLCFA) 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) 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) 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) 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 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) 1 2 Johan den Dunnen
00052357 - PubMed: Kemp 1994, Journal: Kemp 1994 - - no - - - 0 - - - - 1 5 Johan den Dunnen
00052358 - PubMed: Kemp 1994, Journal: Kemp 1994 - - no - - - 0 - - - - 1 25 Johan den Dunnen
00052371 - PubMed: Tarpey 2009 - ? - ? (unknown) European - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 35 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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) 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 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 1 1 Johan den Dunnen
00087103 - - - M - India - - 0 - - - - 1 1 Sudha Kohli
00087104 - - heterozygous carrier mother, no patient material available F - India - - 0 - - - - 1 1 Sudha Kohli
00087208 - - - M - India indian - 0 - - - - 1 1 Sudha Kohli
00180937 - - - M - - - - 0 - - ? HP:0001257 (Spasticity) 1 1 IMGAG
00183137 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00271378 - - - F - - - - 0 - - ? Spastic paraplegia (HP:0001258) 1 1 IMGAG
00294962 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295412 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295496 - - - F - - - - 0 - - ? Visual impairment (HP:0000505); Paraplegia/paraparesis (HP:0010551) 1 1 Andreas Laner
00374174 S-2407 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Hyperpigmentation, memory loss and elevated VLCFA. MRI showed leukodystrophy 1 1 Johan den Dunnen
00374175 S-2545 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Addison disease, high VLCFA and features suggestive of X-linked adrenoleukodystrophy 1 1 Johan den Dunnen
00374176 S-5919 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Minimal hyperpigmentation, short stature and impending adrenal insufficiency 1 1 Johan den Dunnen
00374177 S-6559 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Encephalopathy, delayed motor development, dysarthria, global developmental delay, failure to thrive, spasticity, cognitive deficit, ID, optic atrophy and hearing loss. Suspected of adrenoleukodystrophy 1 1 Johan den Dunnen
00374178 S-3648 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Progressive darkening of skin, deterioration of scholastic performance, leukodystrophy, worsening of handwriting and increased levels of VLCFA indicative of leukodystrophy 1 1 Johan den Dunnen
00380766 ? PubMed: Nair 2018 - ? - Lebanon - - 0 - - ALD Neuroregression; hearing problems; adrenal insufficiency (Neurology) 1 1 LOVD
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